학술논문

발행년
-
(예 : 2010-2015)
'학술논문' 에서 검색결과 127건 | 목록 1~10
Academic Journal
Glasbey, James CAbbott, Tom EFAdemuyiwa, AdesojiAdisa, AdewaleAlAmeer, EhabAlshryda, SattarArnaud, Alexis PBankhead-Kendall, BrittanyAbou Chaar, M KChaudhry, DaoudCostas-Chavarri, AinhoaCunha, Miguel FDavies, Justine IDesai, AnantElhadi, MuhammedFiore, MarcoFitzgerald, James EdwardFourtounas, MariaFowler, Alex JamesFutaba, KayGallo, GaetanoGhosh, DhruvaGujjuri, Rohan RHamilton, RebeccaHaque, ParvezHarrison, Ewen MHutchinson, PeterHyman, GabriellaIsik, ArdaJayarajah, UmeshKaafarani, Haytham MAKadir, BryarLawani, IsmailLederhuber, HansLi, ElizabethLöffler, Markus WLorena, Maria AguileraMann, HarvinderMartin, JanetMazingi, DennisMcClain, Craig DMcLean, Kenneth AMeara, John GRamos-De La Medina, AntonioMengesha, MengistuMinaya, AnaModolo, Maria MartaMoore, RachelMorton, DionNepogodiev, DmitriNtirenganya, FaustinPata, FrancescoPearse, RupertPicciochi, MariaPinkney, ThomasPockney, Petervan Ramshorst, Gabrielle HRichards, TobyRoslani, April CamillaSatoi, SoheiSayyed, RazaShaw, RichardSimões, Joana FFSmart, NeilSullivan, RichardSund, MalinSundar, SudhaTabiri, StephenTaylor, Elliott HVenn, Mary LWickramasinghe, DakshithaWright, NaomiYip, Sebastian Bernardo ShuBhangu, AneelOmar, OmarHarrison, EwenBhangu, Aneel ASiaw-Acheampong, KwabenaBenson, Ruth ABywater, EdwardDawson, Brett EEvans, Jonathan PHeritage, EmilyJones, Conor SKamarajah, Sivesh KKhatri, ChetanKhaw, Rachel AKeatley, James MKnight, AndrewLawday, SamuelMann, Harvinder SMarson, Ella JMckay, Siobhan CMills, Emily CPellino, GianlucaTiwari, AbhinavTrout, Isobel MWilkin, Richard JWAbukhalaf, SadiAdamina, MichelAdemuyiwa, Adesoji OAgarwal, ArnavAkkulak, MuratAlameer, EhabAlderson, DerekAlakaloko, FelixAlbertsmeier, MarkusAlser, OsaidAlshaar, MuhammadAugestad, Knut MagneAyasra, FarisAzevedo, JoséBankhead-Kendall, Brittany KBarlow, EmmaBeard, DavidBlanco-Colino, RuthBrar, AmanpreetMinaya-Bravo, AnaBreen, Kerry ABretherton, ChrisBuarque, Igor LimaBurke, JoshuaCaruana, Edward JChaar, MohammadChakrabortee, SohiniChristensen, PeterCox, DanielCukier, MoisesDavidson, Giana HDi Saverio, SalomoneDrake, Thomas MEdwards, John GEmile, SamehFarik, ShebaniFord, SamuelGarmanova, TatianaGomes, Gustavo Mendonça AtaídeGrecinos, GustavoGriffiths, Ewen AGruendl, MagdalenaHalkias, ConstantineHisham, IntisarHutchinson, Peter JHwang, ShelleyJenkinson, Michael DJonker, PascalKeller, DebbyKolias, AngelosKruijff, ScheltoLeventoglu, SezaiLitvin, AndreyLoehrer, AndrewMajor, PiotrMashbari, Hassan NMetallidis, SymeonMohan, Helen MMoszkowicz, DavidMoug, SusanNg-Kamstra, Joshua SMaimbo, MayabaNegoi, IonutNiquen, MilagrosOlivos, MaricarmenOussama, KacimiOutani, OumaimaParreno-Sacdalanm, Marie DioneRivera, Carlos Jose PerezPinkney, Thomas DPlas, Willemijn van derQureshi, AhmadRadenkovic, DejanRevell, Elliot JRoberts, KeithRoslani, April CRutegård, MartinSegura-Sampedro, Juan JoséSantos, IrèneSchache, AndrewSchnitzbauer, Andreas ASeyi-Olajide, Justina OSharma, NeilShaw, Catherine AShu, SebastianSoreide, KjetilSpinelli, AntoninoStewart, Grant DTownend, PhilipTsoulfas, GeorgiosVidya, RaghavanVimalachandran, DaleWarren, Oliver JWedderburn, DuaneEuroSurg, NAEuropean Society of Coloproctology (ESCP), NAGlobal Initiative for Children's Surgery, NAGlobalSurg, NAGlobalPaedSurg, NAItSURG, NAPTSurg, NASpainSurg, NAItalian Society of Colorectal Surgery, NAAssociation of Surgeons in Training, NAIrish Surgical Research Collaborative (ISRC), NATransatlantic Australasian Retroperitoneal Sarcoma Working, NAItalian Society of Surgical Oncology, NABooth, LesleyBarker, MargaretBarker, NeilCooke, ShirleyDoré, SuzanneHorwood, NigelRunigamugabo, EmmyWeir, Carrie TierneyBahrami-Hessari, MikeRiaz, AsadShah, JafferSafi, MohammedThereska, DarielDajti, IridaCheddadi, RiadhTidjane, AnisseQuinteros, Carlos Akhelfaoui, AhmedSalem, Khalifa MRiffi, OmarKacimi, Salah Eddine OLoudjedi, SalimDamerdji, TidjaniPantoja Pachajoa, Diana APalacios Huatuco, René MAlvarez, Fernando ADoniquian, Alejandro MAbeldaño Zuñiga, Roberto ASchlottmann, FranciscoCobos, Carlos MGigena, CeciliaForneris, Agustin AlbaniDuro, AgustinGarcía-Mansilla, Agustín MBusnelli, Virginia CanoPoggi, CatalinaMercado, Pedro LGonzález, MarcosCastro Lalin, Agustina FMayer, Horacio FBrandariz, RodrigoSlullitel, Pablo ABoudou, RocioLobos, Pablo AUffelmann, María CPetersen, Maria LLuzzi, EmiliaPadilla Lichtenberger, Fernando LCrespi Amor, María SZarratea, Celeste SEsteves, Tomas AGemelli, Nicolas ATirapegui, SebastiánLiyo, JuanScherñuk, JordánBoccalatte, Luis ABalmaceda, Ruben DD'Addino, Jose LCaubet, María MCalderón Arancibia, José AChwat, CarinaMorris, BrianAvellaneda, NicolasPedraza Salazar, Ivana IEskinazi, Diego GVargas, LaraMuriel, María ELucchini, Sergio MGosselink, Martijn PDavis, Amelia LBarker, John CQin, Kirby RProud, David MCox, Daniel RAGoh, Su KahLiu, David SWu, Damien MMerrett, Neil DBadiani, Sarit SSengupta, ShomikJain, AnshiniSteen, Christopher JWong, EnochIp, Christopher CKLeaning, Matthew GMcCartney, Conor BGananadha, SivakumarYeap, Evie FWStevens, Sean GVu, Anh NMartin, Sarah AStanley, Guy H MWatson, David ITownend, Philip JYoung, Thomas KCox, Georgia TDawson, Amanda CLaura, Sharon ELun, Elizabeth W YLiang, Ina XO'Neill, Christine JLott, Natalie JChuan, AlwinSaravanan, SKGundara, JustinOng, Bee ShanNataraja, Ramesh MPacilli, MaurizioFoley, Daniel MOoi, Geraldine JTraeger, LukeMacDermid, EwanDaruwalla, JurstineHodgson, RussellHeriot, Alexander GMulligan, Christopher SBlefari, Nicholas D APurcell, Shaun SFrankel, Adam JGuerra, Glen RTefay, Joan SLiang, Rhea W YKroon, Hidde MFarfus, Anthony WWarren, Leigh RRoy, Jennifer MWhitfield, Robert JMoller, Cea-Cea BDavis, Sean SSammour, TarikLam, Yick HoKour, KevinGan, Siang WeiCoventry, Brendon JDawson, Joseph ABatstone, Martin DKing, Sebastian KScott, Nathan JFoo, Jonathan WShepherd, TaliaPage, Richard SChoong, Peter FBadgery, Henry EChong, LynnTaylor, LillianHii, Michael WWright, Gavin MKong, Joseph CHWatson, Matthew MBock, JacobLidder, Surjit SElias, PatrickKanavathy, SathisvaranKoh, Cherry EChennakesavan, Srinivas KondalsamyPanuganti, VishwakarLatif, HaiderYeung, Justin MCBesson, Alex JTse, Eunice Q YPitcher, Meron ETaylor, Danielle LNahm, Christopher BLim, AliciaTree, KevinAigner, FelixDawoud, ChristopherFoessleitner, PhilippZimmermann, MatthiasWiedemann, DominikFindl, OliverMessner, FrankaBauer, MarliesNägele, FelixKronberger, Irmgard EÖfner, DietmarHärter, BettinaBicz, Nina Ru BZwittag, Paul MPoier, NikolausNavarro, Francisco RuizZebuhr, Yorck AKöglberger, PaulWiesinger, Clemens GMathew, ErwinTrivik-Barrientos, FelipeKönigsrainer, IngmarDjedovic, GabrielCohnert, Tina ULumenta, David BSinger, GeorgLeithner, AndreasKamolz, Lars-PeterAndrianakis, AlexandrosPuchwein, PaulMikalauskas, SauliusKirchweger, PatrickFügger, ReinholdMittermair, ChristofRusse, ElisabethPaal, PeterGrünbart, Martinde Cillia, MichaelWeiss, Helmut GSteiner, FlorianBinder, Alf DorianSamadov, ElgunIbrahimli, ArturanMuslumov, GurbankhanBayramov, Nuru YSaunders, Jada MAlmoosa, NooraHaj-Ibrahim, HuzifaMaresch, MartinEzzdean, Weaam KJuma, Isam MHasan, Layla HHaider, Fayza HAAlfaqawi, Ghassan SalmanAlam, Mohammed SIslam, ShahnoorBasher, AKM KMitul, Ashrarur RahmanIslam, NazmulOosterkamp, Antje EAhmed, TanveerHannan, M JafrulPadmore, Greg MDoyle, Alex FLaCorbiniere, Karisha LBoyce, Rico D RRagoobar, Paul TWalkes, Keisha M YHaynes, Amelia ACorbin, Sasha MLitvina, Yauheniya AMakhmudov, AnvarStrypstein, SébastienDhondt, BertRasschaert, RickyFarid, YasserWahib, El MahdiPigeolet, ManonBelle, Koen VanDe Wachter, StefanKomen, NielsVandeputte, Mathieu PJJansen, Yanina JLStijns, JasperEynde, Jef Van denOlowo, Benedicte IFeraudy, Israel CDragisic, VedranMartinovic, VlatkaBarišić, TatjanaPenava, NikolinaHudic, IgorDelibegovic, SamirBogdanović, GordanaGrgić, GordanaCerovac, AnisCerovac, ElmedinaBedada, Alemayehu GBaiocchi, GlaucoWainstein, AlbertoMoisés, Elaine Christine DZani, Ana Carolina Tagliattide Campos Prado, Caio AntonioPanis, CarolinaRech, DanielSoares da Silva, Ruan GabrielJoviliano, Edwaldo ERezende, Ricardo FReis, Igor G NPires, Robinson E SChristiano, Adriana BorgonoviConsani, Heitor F XPugliesi, Felipe GTakeda, Flavio RMariani, Alessandro WValadares, Ricardo J BAndreollo, Nelson ALopes, Luiz RobertoTonello, CristianoAlonso, Nivaldodos Santos, Carlos FerreiraLima, Leonardo SSalgado, WilsonPereira, Thiago H SGatti, Arthur ParedesOliva, Ramon N LNardi, Caroline NSousa, Alvaro F LRibeiro, Ivonizete PCarvalho, Herica E FOliveira, Layze BSchneider, GuilhermeCasteleins, William AugustoSilva, Larissa MGomes, Carlos Augustoda Cunha Viana Júnior, AlonçoCruz, Ricardo PGomes, Gustavo MABuarque, Igor LBarros, Aldo VMarangon, Gustavo BFlumignan, Ronald LGNakano, Luís CUPascoal, Patrícia IFSantos, Brena CKuramoto, Danielle ABCorreia, Rebeca MAmaral, Fabio CFFlumignan, Carolina DQDussán-Sarria, Jairo ASimões, Romeo LAmorim, Robson LSilva, Jeancarllo SLyra Junior, Humberto FJulio, Nathalia SGerber, Marlus Tdos Santos, José Maurode Oliveira, Joao Carlos CPalamim, Camila VCMarson, Fernando ALGomes, Iolanda MOliveira, Priscila RLima, Ana Lucia L MCarvalho, Vladimir CSilva, Jorge SNA, Ulysses RibeiroLaporte, Gustavo AndreazzaGonçalves, Mateus CapuzzoBotacin, Lais SAvelino, Melissa AGBrito, Luiz Gustavo OHristova, Evguenia TStoyanov, Vladislav ValentinovSakakushev, Boris EDardanov, Dragomir DSokolov, Manol BMehta, AnanyaGyokova, Elitsa HAbdullahi, MohamedKaramanliev, Martin PDimitrov, Dobromir DSlavchev, Mihail TAtanasov, Boyko ChYotsov, Tsanko IHadzhiev, Dimitar BozhidarovStock, Simon ENwegbu, Chukwuemeka GeraldTanyi, Tanyi JohnBrown, James AArneja, Jugpal SLee, Susan MKancherla, RamyaKidane, BiniamChampagne, Pierre-OlivierMa, XiyaMunro, AllanaMcKeen, Dolores MGlinka, JuanVasarhelyi, Edward MSubramani, YaminiAlfaro, HildaShah, Ushma JGonzalez, Nelson JMacNeil, S DanielleNagappa, MaheshMalthaner, Richard ABrackstone, MurielAlkhamesi, Nawar AQiabi, MehdiArango-Ferreira, CamilaPrempeh, Agya B ADumitra, SinzianaSpence, Richard TBedard, Eric LRLuc, Jessica GYJohnston, Brian RAttabib, NajmeddenPersad, Amit RLDas, SunitKhoshbin, AmirLadha, Karim SSankar, AshwinTeja, BijanDaza, Julian FChan, Veronica FBaertschiger, Reto MZani, AugustoNessim, CarolynMcIsaac, Daniel ISingh, MandeepBehzadi, AbdollahDell, Angela JAl Riyami, Salim MDajani, Khaled ZBigam, DavidManikala, Vinod KStreet, John TMayson, Kelly VWallis, Christopher J DMimica, XimenaVillanueva, JulioAltamirano, RobertoWaissbluth, SofiaMarín, Diego IFonseca, Bruno CatoiaHodali, Andrés JRamos, Andrea IValenzuela, Marco ATorres, Janina JSong, YiYang, WahAldanakh, AbdullahAlradhi, MohammedLyu, YidongChen, YanFletcher, Angélica VCamargo, DanielaCasanova, Rafael FigueroaMedina, Camilo Andres CaicedoBolivar, DinimoGarcia, Tatiana Carolina BeltranPedraza, Nestor FGarcia-Lopez, AndreaPatino-Jaramillo, Nasly GGiron, Fernando ARivera, Carlos J- PerezNieto-Calvache, Albaro JoséAriza, FredyOrozco-Chamorro, Claudia MilenaNanez, Maria AGarces, Diana SFigueroa, Luis MBadiel, MarisolMartinez, Delio FColl-Tello, BrendaCamelo, Hector FMontoya Casella, Antonio JOrdoñez, SebastianVelez Sanchez, Paola ASalcedo, Juan CVillegas, Lina MHolguín, Jorge ACardozo, Jesús Hernán TovarPerdomo, Jorman Harvey TejadaPerdomo, Valentina GutiérrezRivera-Rincon, Natalia AGomez, Paula TorresDelgado-Nieto, Elena LeonorIsaza-Restrepo, AndresVargas, FelipeVargas, Ana MCastro, Arnulfo AndradeNavarro, Jorge AVargas, Saul ECalvache, Jose AMendoza-Arango, Maria CBernal, Jorge Luis VélezGonzalez, Felipe Ošantak, GoranKirac, IvaKršul, DorianVersic, Ana BosakAugustin, GoranKulis, TomislavKastelan, ZeljkoHadzibegovic, Ana DanicGrsic, KresimirHudolin, TvrtkoTarle, MarkoMamic, MatijaLorencin, MiaLuksic, IvicaHabek, DubravkoKonjevoda, SuzanaMihanovic, JakovAntoniou, Stavros AAlmezghwi, Heyam AGouvas, NikolaosMartinek, LubomirNovysedlak, ReneŽatecký, JanMeyhoff, Christian SEllebæk, Mark BremholmBatista, Sylvia JeanneRodriguez, JuliaMejia De la Cruz, DoloresJimenez, Mirna Giselle SantiagoDominguez, Carla MNegrete, José RCampuzano, Pedro NMogrovejo, Daniel LArmas, Maria JArboleda-Bustan, Jenny ELincango-Naranjo, Eddy PEl-Kassas, MohamedAwad, Ahmed KAlazab, EmadAbdulmaseh, Kyrillos GDiab, ShereinEl Wahab, Mostafa HAbdDarwesh, AmrMostafa, Badr EAbdelgalil, Mahmoud ShabanElbadawy, Merihan AReda, Ali MAsla, Amir FathiFayed, Notaila MAhmed, Mohamed SElsadek, Menan AhmedGad, Dalia ElsayedEl Saadany, Aya GameelElsadek, Aalaa MohamedSayed, Ahmed ENaeem, AhmedAl-Mallah, AbdullahAbdelsamed, Ahmed AEwedah, MoatazSoliman, Mohamed OTanas, YousefHamouda, MohammedMahfouz, Marina HAbdo, Manal EDean, Yomna ELka, KarimAbodeeb, Aya OAshoush, Fouad M F BElsherbiny, Roqaia RGadelkarim, MohamedOsman, Nermin AMIbrahim, MayaYoussef, Nehal GIbrahim, Mohamed HamdySoliman, AntoniosGadelkareem, Rabea AAbbas, Ahmed MMohamed Hussein, Aliae ARAbdelsattar, KhaledMaher, AhmedElabd, Mohamed MAbdelazim, HassanIbraheem, Maher HNoureldin, Yasser AElfiky, MahmoudEbrahim, Mohamed AAbdelrahman, Ahmed Saber MohamedMarei, Mahmoud MareiElkhalawy, Aya MAzzam, Ahmed YAzab, Mohammed AElmasry, Ahmed HElgazar, AmrShalaby, Mahmoud Mohamed MohamedMahmoud, Mohammad SQassem, Mohamed GKinani, HusseinWahba, Abdelrahman MEzzat, Rana HishamAhmed, Mai HElshawy, Mohamed ElemamFaragalla, Hazem MetwallyMahmoud, Khalid DNafea, Ahmed MAbdel-Maboud, MohamedAbozied, HeshamMoharam, ModatherShehata, Ashraf HElKafrawy, Samir ATayiawi, Mosaab MElghadban, Hosam MEmara, Moataz MShehta, AhmedSaqr, Amira MAbdelelsalm, Wafaa MElshennawy, Eslam MRadwan, Samar TAwad, Selmy SEmile, Sameh HAldosoky, Wesam AElfeki, HossamGendi, Sara NAbdelsalam, Hala AdelHammad, MohammedShalaby, MostafaSakr, Ahmad HammadAbdelmaksoud, Mohamed AAlawady, MohammedOmran, Abdelrahman AzzamAllam, Abdallah RIsmail, ZainabGaballah, Khaled MAlGady, Mahmoud Fathy MahmoudRaslan, Ahmed MGharbia, KhaledNuser, Abdelazez ASayed, Ahmed KamalElshahawy, Mahmoud AGhaly, GalalSherif, Ahmed ElshawadfyMakram, Abdelrahman MMakram, Omar MAhmed, OlaHelmy, AbdelRahman M AAbdelwahab, Khaled MAbdelkhalek, MohamedMetwally, Islam HShetiwy, Mosab SaadZuhdy, MohammadRamadan, Salma IAbdelghany, MohamedOmar, Mohammed ASoliman, Ziad AAli, Hossam TElnoamany, SalmaGhozy, SheriefAbbas, Alzhraa SShehata, Mostafa AMahmoud, Sahar AElsaman, Mohammed AFayad, Elsayed ARadwan, AsmaaEl-Sakka, Ahmed ISallam, AsserElbahnasawy, Mohamed GEsmail, Eslam SHawila, Ahmed MaherHamada, Mohamed KMotawea, Sara HMorsy, Mohamed SEl-Sheemy, Hatem RefaatEbada, Mahmoud AhmedKhedr, Ali HGad, AhmedElmandouh, OmarElmandouh, ReemAlkanj, SouadYoussef, Mohammad GAwad, KamalMohammed, MagedElsayad, Ahmed HRätsep, TõnuWolle, Melatework ANegussie, Abraham GAdimass, Misganaw AMisganaw, Bereket TsegayeBezabih, Yoseph SAssefa, Biniam ZemeduShumye, Getachew WMengesha, Mengistu GGechera, Dagnachew YMohammed, Adnan AMulugeta, Gersam AMetaferia, Yonas YKifetew, Ashebir BDegefa, Eyueal ADeressa, Yadani MGonfa, Kebebe BekeleBedane, Zewdie GAyalew, Alem MAyele, Henok TeshomeAbebe, EngidaWorku, Bereket AtnafuSisay, Million MKassa, Dawit WorkuAwedew, Atalel FBayable, Abera CTiruneh, Abraham GenetuHailu, SamuelNumaro, Yilkal TAdeme, YonasBaleh, Abat SMegerssa, Thomas BKejela, SegniDerilo, Habtamu TAkililu, Yemisirach BLebbe, IrisSarjanoja, Elise KKauppila, Joonas HSinikumpu, Juha-JaakkoGiordano, SalvatoreKantor, ElieSoussan, RomyTommaso, Cipolat MisNappi, FrancescoMorichau-Beauchant, TristanNahum, JulienMaillet, Jean-MichelGodement, MathieuJouffret, LionelMigliorelli, FedericoDe Simone, BelindaBrunaud, LaurentFuchs-Buder, ThomasTestelin, SylvieBin, KimBoucher, SophieSchmitt, FrançoiseLakkis, ZaherHarper, LukeSlim, KPiessen, GuilaumeEveno, ClarisseBallouhey, QuentinTaibi, AbdelkaderCrenn, VincentDuchalais, EmilieAzzis, OlivierTuech, Jean-JacquesVaysse, CharlotteWeyl, ArianeVergriete, KeligCharbonneau, HeleneEzanno, Anne-CecileMalgras, BriceBasso, Celeste DelDuquesne, IgorBernabei, FedericoRothschild, Pierre-RaphaëlAbbo, OlivierManceau, GillesChamouni, AlexandreCrétolle, CéliaArnalsteen, LaurentMikhael, EliePolice, AndreaMontero-Macias, RosaVillefranque, VincentMaisonneuve, EmelineLanglais, TristanSeeliger, BarbaraPessaux, PatrickGonzalez, Cristians AD'Urso, AntonioAngeles, Martina ASeguin-Givelet, AgatheDes Deserts, Marc DanguyGaujoux, Sebastiende Ponthaud, CharlesChartier-Kastler, Emmanuel JAli, LizaPeycelon, MatthieuMege, DianeDemetrashvili, ZazaStoleriu, Mircea GKeppler, LenaSaier, TimKonrads, ChristianTapking, ChristianKamphues, CarstenBulian, Dirk RSchmedding, AndreaDoerner, JohannesGut, Anna ERolinger, JensKirschniak, AndreasSchröder, LarsReim, DanielSafi, SeyerFichter, Andreas MWagner, ArthurMeyer, BernhardGempt, JensSablotzki, Armin RHerzberg, JonasAltenburg, ManuelYenilmez, FerhatMeins, JanAghwan, Louai ABörner, NikolausKeppler, Alexander MSeyfried, SteffenRassweiler-Seyfried, Marie-ClaireKriegmair, MaximilianKowalewski, Karl-FriedrichGousias, KonstantinosStrotmann, Johanna JHöhn, PhilippHorn, JulianKnipschild, Julia MSiemen, LeonieLuu, Andreas MinhHorch, Raymund EMcLean, Aaron LawsonLindert, Judith Anne TeresaZiemann, SebastianModabber, AliWinnand, PhilippHölzle, FrankSommer, BjörnWolf, SebastianShiban, EhabRecker, FlorianGüresir, ErdemRandau, Thomas MGüresir, AgiVelten, MarkusVilz, Tim OWittmann, MariaWillis, Maria AGlowka, Tim RBork, UlrichHecker, MatthiasHecker, AndreasReichert, MartinMiller, ClemensNemeth, MarcusRonellenfitsch, UlrichKleeff, JorgLorenz, KerstinKisser, UlrichSchneider, RickSeiwerth, IngmarOsterhoff, GeorgLinz, Valerie CMallmann, Michael RRokohl, Alexander CHeindl, Ludwig MWawer Matos, Philomena ACursiefen, ClausMallmann, Christoph ADomroese, Christian MKönigsrainer, AlfredYurttas, CanThiel, KarolinVahl, Julius MWiegering, ArminLock, Johan FHeuer, AnnikaReiter, AlonjaStangenberg, MartinBöttcher, ArneKaemmerer, DanielMensah, Kofi TGyamfi, Frank EOpandoh, Isabella N MOfori, Emmanauel OBaidoo, Ebikela IBaidoo, Richard OAzize, Diallo AAppiah-Thompson, PeterAgbeno, Evans KKen-Amoah, SebastianRahman, Ganiyu AKpangkpari, RichardAniakwo, Luke ANortey, MichaelAgyapong, Meshach MBoakye, BenedictMensah, PhilipAgyen-Mensah, KwasiAmoako-Boateng, Mabel PMensah, SamuelDebrah, SamYakubu, MustaphaAdam-Zakariah, Leslie IssaDavor, AnthonyArthur, JoshuaDzogbefia, MawutorKonney, AnnaKonney, Thomas OAmoah, MichaelBarnor, IsaacIssahalq, Mohammed DuahHoyte- Williams, Paa EkowAwortwi, Wilfred SamHammond, BernardAwoonor-Williams, RonaldNaabo, Nuhu N HAppiah-Kubi, AduAdanu, Kekeli KodjoClegg-Lamptey, Joe Nat AAdae, Jefferson OwusuAdjeso, Theophilus T KYahaya, MundashiruAnsah-Agyei, David ACharadan, Ana Maria SimonoLabrada, Magdiel RodriguezIssaka, AdamuYabasin, Iddrisu BAntwi, David AManan, LukmanBukari, Mohammed I SBuunaaim, Alexis D BAlatiiga, John AbangaSheriff, MohammedKumi, Emmanuel OBonsaana, Gilbert BMicha, GeorgiaKiriakopoulos, NikolaosStroumpoulis, KonstantinosKalopita, KonstantinaGrypiotis, IoannisPsarianos, Kyriakos AAslanidis, TheodorosKorkolis, Dimitris PFradelos, EvangelosArvanitaki, 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KonstantinosKalfountzos, ChristosKoukoulis, Georgios DBouliaris, KonstantinosLachanas, Vasileios ADoudakmanis, Christos AChouliaras, ChristosPapadopoulos, AristeidisNtalouka, Maria PMagouliotis, DimitriosFergadi, MariaSamara, Athina AChristodoulidis, GrigoriosBareka, MetaxiaAthanasiou, ThanosArnaoutoglou, Eleni MHajiioannou, JiannisPerivoliotis, KonstantinosBaloyiannis, IoannisAngelis, Fragkiskos AStamoulis, Konstantinos GSymeonidis, DimitriosKorais, ChristosGkrinia, EleniNtziovara, Anna-MariaMulita, FranceskBouchagier, KonstantinosVerras, Georgios IArgentou, Maria IVailas, MichailGermanos, StylianosTavlas, PanagiotisTatsis, DimitrisAstreidis, Ioannis TLouizakis, AlexandrosAntoniou, AsteriosParaskevopoulos, KonstantinosChrysovitsiotis, GeorgiosFrountzas, MaximosToutouzas, Konstantinos GChrysovergis, AristeidisPotamianos, SpyridonKyrodimos, EfthymiosPapanikolaou, VasileiosTheodoropoulos, GeorgeTriantafyllou, TaniaLarentzakis, AndreasKimpizi, Athina-DespoinaTsakiridis, IoannisKapetanios, 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Physics Reports. 427(5-6):257-454
Academic Journal
Potter AL; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.; Senthil P; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.; Srinivasan D; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.; Raman V; Division of Cardiovascular and Thoracic Surgery, Duke University Medical Center, Durham, NC.; Kumar A; Department of Thoracic Surgery, Icahn School of Medicine at Mount Sinai, New York, NY.; Haridas C; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.; Mathey-Andrews C; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.; Zheng W; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Nashville, Tenn; Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, Tenn.; Jeffrey Yang CF; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass. Electronic address: cjyang@mgh.harvard.edu.
Publisher: Mosby Country of Publication: United States NLM ID: 0376343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-685X (Electronic) Linking ISSN: 00225223 NLM ISO Abbreviation: J Thorac Cardiovasc Surg Subsets: MEDLINE
Academic Journal
Wojcik MH; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Lemire G; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Berger E; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Zaki MS; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Wissmann M; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Win W; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; White SM; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Weisburd B; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Wieczorek D; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Waddell LB; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Verboon JM; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; VanNoy GE; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Töpf A; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Tan TY; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Syrbe S; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Strehlow V; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Straub V; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Stenton SL; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Snow H; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Singer-Berk M; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Silver J; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Shril S; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Seaby EG; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Schneider R; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Sankaran VG; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Sanchis-Juan A; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Russell KA; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Reinson K; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Ravenscroft G; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Radtke M; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Popp D; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Polster T; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Platzer K; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Pierce EA; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Place EM; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Pajusalu S; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Pais L; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Õunap K; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Osei-Owusu I; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Opperman H; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Okur V; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Oja KT; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; O'Leary M; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; O'Heir E; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Morel CF; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Merkenschlager A; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Marchant RG; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Mangilog BE; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Madden JA; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; MacArthur D; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Lovgren A; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Lerner-Ellis JP; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Lin J; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Laing N; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Hildebrandt F; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Hentschel J; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Groopman E; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Goodrich J; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Gleeson JG; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Ghaoui R; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Genetti CA; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Gburek-Augustat J; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Gazda HT; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Ganesh VS; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Ganapathi M; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Gallacher L; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Fu JM; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Evangelista E; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; England E; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Donkervoort S; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; DiTroia S; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Cooper ST; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Chung WK; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Christodoulou J; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Chao KR; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Cato LD; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Bujakowska KM; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Bryen SJ; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Brand H; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Bönnemann CG; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Beggs AH; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Baxter SM; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Bartolomaeus T; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Agrawal PB; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Talkowski M; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Austin-Tse C; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Abou Jamra R; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; Rehm HL; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).; O'Donnell-Luria A; From the Division of Newborn Medicine (M.H.W., P.B.A.), the Manton Center for Orphan Disease Research (M.H.W., W.W., S.L.S., J.A.M., J.L., C.A.G., H.T.G., A.H.B., P.B.A., A.O.-L.), Division of Genetics and Genomics (M.H.W., G.L., S.L.S., L.P., E.G., H.T.G., V.S.G., A.H.B., P.B.A., A.O.-L.), Department of Pediatrics (S. Shril, R.S., F.H., W.K.C.), and the Division of Hematology and Oncology (M.W., J.M.V., V.G.S., L.D.C.), Boston Children's Hospital, Harvard Medical School, the Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School (M.W., J.M.V., V.G.S., L.D.C.), the Center for Genomic Medicine (A.S.-J., J.G., J.M.F., H.B., M.T., C.A.-T., H.L.R., A.O.-L.) and the Pediatric Surgical Research Laboratories (H.B.), Massachusetts General Hospital, the Department of Neurology, Harvard Medical School (A.S.-J., V.S.G., J.M.F., H.B., M.T.), the Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School (E.A.P., E.M.P., K.M.B.), and the Department of Neurology, Brigham and Women's Hospital (V.S.G.), Boston, the Broad Center for Mendelian Genomics (M.H.W., G.L., B.W., G.E.V., S.L.S., H.S., M.S.-B., E.G.S., A.S.-J., K.A.R., L.P., I.O.-O., M.O., E.O., B.E.M., D.M., A.L., E.G., J.G., V.S.G., J.M.F., E. Evangelista, E. England, S. DiTroia, K.R.C., H.B., A.H.B., S.M.B., M.T., C.A.-T., H.L.R., A.O.-L.), Program in Medical and Population Genetics (M.W., J.M.V., V.G.S., L.D.C., A.H.B., P.B.A.), and the Stanley Center for Psychiatric Research (M.T.), Broad Institute of MIT and Harvard, and the Harvard Stem Cell Institute (V.G.S., L.D.C.), Cambridge - all in Massachusetts; the Institute of Human Genetics, University of Leipzig Medical Center (E.B., V. Strehlow, M.R., D.P., K.P., H.O., J.H., T.B., R.A.J.), and the Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig (A.M., J.G.-A.), Leipzig, the Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Düsseldorf (D.W.), Heidelberg University, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Epileptology, Heidelberg (S. Syrbe), and the Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School OWL, Bielefeld University, Bielefeld (T.P.) - all in Germany; the Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Center, Cairo (M.S.Z.); the Victorian Clinical Genetics Service (S.M.W., T.Y.T., L.G., J.C.), the Centre for Population Genomics (D.M.), and the Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, VIC, the Department of Paediatrics, University of Melbourne, Melbourne (S.M.W., T.Y.T., L.G., J.C.), the Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead (L.B.W., R.G.M., S.T.C., S.J.B.), the Discipline of Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney (L.B.W., R.G.M., S.T.C., S.J.B.), and Functional Neuromics, Children's Medical Research Institute (R.G.M., S.T.C., S.J.B.), Westmead, NSW, the Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, WA (G.R., N.L.), the Centre for Population Genomics, Garvan Institute of Medical Research, Sydney (D.M.), and the Department of Neurology, Central Adelaide Local Health Network/Royal Adelaide Hospital, Adelaide Medical School, University of Adelaide, and the Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA (R.G.) - all in Australia; the John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom (A.T., V. Straub); the Fred A. Litwin Family Centre in Genetic Medicine, University Health Network (J.S., C.F.M.), the Department of Molecular Genetics (J.S.), the Faculty of Medicine (C.F.M.), and the Department of Laboratory Medicine and Pathobiology (J.P.L.-E.), University of Toronto, and Pathology and Laboratory Medicine and the Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health (J.P.L.-E.) - all in Toronto; the Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, and the Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia (K.R., S.P., K.Õ., K.T.O.); Molecular Diagnostics, New York Genome Center (V.O.), and the Department of Pathology and Cell Biology, Columbia University Irving Medical Center (M.G.) - both in New York; the Department of Neurosciences, University of California, San Diego, La Jolla, and Rady Children's Institute for Genomic Medicine, San Diego - both in California (J.G.G.); and the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD (S. Donkervoort, C.G.B.).
Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE
Academic Journal
Kumar A; Icahn School of Medicine at Mount Sinai, New York, NY.; Srinivasan D; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.; Potter AL; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.; Mathey-Andrews C; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.; Lanuti M; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.; Martin LW; Division of Thoracic and Cardiovascular Surgery, Department of Surgery, University of Virginia, Charlottesville, Va.; Jeffrey Yang CF; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass. Electronic address: cjyang@mgh.harvard.edu.
Publisher: Mosby Country of Publication: United States NLM ID: 0376343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-685X (Electronic) Linking ISSN: 00225223 NLM ISO Abbreviation: J Thorac Cardiovasc Surg Subsets: MEDLINE
Academic Journal
Potter AL; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.; Rosenstein AL; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.; Kandala K; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.; Venkateswaran S; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.; Kiang MV; Department of Epidemiology and Population Health, Stanford University, Stanford, Calif.; Okusanya OT; Division of Esophageal and Thoracic Surgery, Department of Surgery, Thomas Jefferson University Hospital, Philadelphia, Pa.; Auchincloss HG; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.; Martin LW; Department of Surgery, University of Virginia, Charlottesville, Va.; Colson YL; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass.; Jeffrey Yang CF; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Boston, Mass. Electronic address: cjyang@mgh.harvard.edu.
Publisher: Mosby Country of Publication: United States NLM ID: 0376343 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-685X (Electronic) Linking ISSN: 00225223 NLM ISO Abbreviation: J Thorac Cardiovasc Surg Subsets: MEDLINE
Academic Journal
Van Schil PE; Department of Thoracic and Vascular Surgery, Antwerp University Hospital and Antwerp University, Antwerp, Belgium. Electronic address: paul.van.schil@uza.be.; Asamura H; Division of Thoracic Surgery, Keio University School of Medicine, Tokyo, Japan.; Nishimura KK; Cancer Research And Biostatistics, Seattle, Washington.; Rami-Porta R; Department of Thoracic Surgery, Hospital Universitari Mútua Terrassa, University of Barcelona; CIBERES Lung Cancer Group, Terrassa, Barcelona, Spain.; Kim YT; Department of Thoracic and Cardiovascular Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.; Bertoglio P; Division of Thoracic Surgery, IRCCS Azienda Ospedaliera-Universitaria di Bologna, Bologna, Italy.; Cangir AK; Faculty of Medicine, Ankara University, Ankara, Turkey.; Donington J; Department of Surgery, University of Chicago, Chicago, Illinois.; Fang W; Department of Thoracic Surgery, Shanghai Chest Hospital, Jiaotong University Medical School, Shanghai, People's Republic of China.; Giroux DJ; Cancer Research And Biostatistics, Seattle, Washington.; Lievens Y; Department of Radiation Oncology, Ghent University Hospital and Ghent University, Ghent, Belgium.; Liu H; Sun Yat-Sen University Cancer Center, Guangdong Sheng, People's Republic of China.; Lyons G; Thoracic Surgery Department, Buenos Aires British Hospital, Buenos Aires, Argentina.; Sakai S; Department of Diagnostic Imaging and Nuclear Medicine, Tokyo Women's Medical University, Tokyo, Japan.; Travis WD; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York.; Ugalde P; Department of Thoracic Surgery, Brigham & Women's Hospital, Boston, Massachusetts.; Jeffrey Yang CF; Division of Thoracic Surgery, Department of Surgery, Massachusetts General Hospital, Massachusetts.; Yotsukura M; Department of Thoracic Surgery, National Cancer Center Hospital, Tokyo, Japan.; Detterbeck F; Department of Thoracic Surgery, Yale University School of Medicine, New Haven, Connecticut.
Publisher: Elsevier Country of Publication: United States NLM ID: 101274235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-1380 (Electronic) Linking ISSN: 15560864 NLM ISO Abbreviation: J Thorac Oncol Subsets: MEDLINE
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[Author] Jeffrey Yang CF
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