학술논문


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'학술논문' 에서 검색결과 275건 | 목록 1~20
Academic Journal
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Pagnamenta, A T, Walker, S, Noble, A J, Lord, J, Dutta, P, Hashim, M, Camps, C, Green, H, Devaiah, S, Nashef, L, Parr, J, Fratter, C, Ibnouf Hussein, R, Lalloo, F, Waite, A, Evans, J, Allen, Z, Perez-Becerril, C, Hart, R, Taylor, J, Bedenham, T, Clement, E, Blair, E, Hay, E, Forzano, F, Canham, N, Majumdar, A, McEntagart, M, Lahiri, N, Stewart, H, Calpena, E, Jackson, A, Banka, S, Titheradge, H, McGowan, R, Rankin, J, Shaw-Smith, C, Evans, D G, Burghel, G J, Smith, M J, Anderson, E, Madhu, R, Firth, H, Ellard, S, Brennan, P, Taupin, D, Rogers, M T, Cook, J A, Durkie, M, East, J E, Fowler, D, Wilson, L, Igbokwe, R, Gardham, A, Tomlinson, I, Baralle, D, Uhlig, H H & Taylor, J C 2024, 'The impact of inversions across 33,924 families with rare disease from a national genome sequencing project', American Journal of Human Genetics, vol. 111, no. 6, pp. 1140-1164. https://doi.org/10.1016/j.ajhg.2024.04.018
Academic Journal
Chen, YuyangDawes, RuebenaKim, Hyung ChulLjungdahl, AliciaStenton, Sarah L.Walker, SusanLord, JennyLemire, GabrielleMartin-Geary, Alexandra C.Ganesh, Vijay S.Ma, JialanEllingford, Jamie M.Delage, ErwanD’Souza, Elston N.Dong, ShanAdams, David R.Allan, KirstenBakshi, MadhuraBaldwin, Erin E.Berger, Seth I.Bernstein, Jonathan A.Bhatnagar, IshitaBlair, EdBrown, Natasha J.Burrage, Lindsay C.Chapman, KimberlyComan, David J.Compton, Alison G.Cunningham, Chloe A.D’Souza, PrecillaDanecek, PetrDélot, Emmanuèle C.Dias, Kerith-RaeElias, Ellen R.Elmslie, FrancesEvans, Care-AnneEwans, LisaEzell, KimberlyFraser, Jamie L.Gallacher, LyndonGenetti, Casie A.Goriely, AnneGrant, Christina L.Haack, TobiasHiggs, Jenny E.Hinch, Anjali G.Hurles, Matthew E.Kuechler, AlmaLachlan, Katherine L.Lalani, Seema R.Lecoquierre, FrançoisLeitão, ElsaFevre, Anna LeLeventer, Richard J.Liebelt, Jan E.Lindsay, SarahLockhart, Paul J.Ma, Alan S.Macnamara, Ellen F.Mansour, SaharMaurer, Taylor M.Mendez, Hector R.Metcalfe, KayMontgomery, Stephen B.Moosajee, MariyaNassogne, Marie-CécileNeumann, SerenaO’Donoghue, MichaelO’Leary, MelaniePalmer, Elizabeth E.Pattani, NikhilPhillips, JohnPitsava, GeorgiaPysar, RyanRehm, Heidi L.Reuter, Chloe M.Revencu, NicoleRiess, AngelikaRius, RocioRodan, LanceRoscioli, TonyRosenfeld, Jill A.Sachdev, RaniShaw-Smith, Charles J.Simons, CasSisodiya, Sanjay M.Snell, PennySt Clair, LauraStark, ZornitzaStewart, Helen S.Tan, Tiong YangTan, Natalie B.Temple, Suzanna E. L.Thorburn, David R.Tifft, Cynthia J.Uebergang, EloiseVanNoy, Grace E.Vasudevan, PradeepVilain, EricViskochil, David H.Wedd, LauraWheeler, Matthew T.White, Susan M.Wojcik, MonicaWolfe, Lynne A.Wolfenson, ZoeWright, Caroline F.Xiao, ChangruiZocche, DavidRubenstein, John L.Markenscoff-Papadimitriou, EireneFica, Sebastian M.Baralle, DianaDepienne, ChristelMacArthur, Daniel G.Howson, Joanna M. M.Sanders, Stephan J.O’Donnell-Luria, AnneWhiffin, Nicola
Nature: International weekly journal of science. 632(8026):832-840
Academic Journal
Borras, SilviaClark, CarolineDean, JohnMiedzybrodzka, ZosiaRoss, AlisonTennant, StephenDabir, TabibDonnelly, DeirdreHumphreys, MervynMagee, AlexMcConnell, VivienneMcKee, ShaneMcNerlan, SusanMorrison, Patrick J.Rea, GillianStewart, FionaCole, TrevorCooper, NicolaCooper-Charles, LisaCox, HelenIslam, LilyJarvis, JoannaKeelagher, RebeccaLim, DerekMcMullan, DominicMorton, JennyNaik, SwatiO’Driscoll, MaryOng, Kai-RenOsio, DeborahRagge, NicolaTurton, SarahVogt, JulieWilliams, DeniseBodek, SimonDonaldson, AlanHills, AlisonLow, KarenNewbury-Ecob, RuthNorman, Andrew M.Roberts, EileenScurr, IngridSmithson, SarahTooley, MadeleineAbbs, SteveArmstrong, RuthDunn, CarolynHolden, SimonPark, Soo-MiPaterson, JoanRaymond, LucyReid, EvanSandford, RichardSimonic, IngridTischkowitz, MarcWoods, GeoffBradley, LisaComerford, JoanneGreen, AndrewLynch, SallyMcQuaid, ShirleyMullaney, BrendanBerg, JonathanGoudie, DavidMavrak, EleniMcLean, JoanneMcWilliam, CatherineReavey, EleanorAzam, TaraCleary, ElaineJackson, AndrewLam, WayneLampe, AnneMoore, DavidPorteous, MaryBaple, EmmaBaptista, JúliaBrewer, CaroleCastle, BruceKivuva, EmmaOwens, MartinaRankin, JuliaShaw-Smith, CharlesTurner, ClaireTurnpenny, PeterTysoe, CarolynBradley, ThereseDavidson, RosemarieGardiner, CarolJoss, ShelaghKinning, EstherLongman, CherylMcGowan, RuthMurday, VictoriaPilz, DanielaTobias, EdwardWhiteford, MargoWilliams, NicolaBarnicoat, AngelaClement, EmmaFaravelli, FrancescaHurst, JaneJenkins, LucyJones, WendyAjith Kumar, V.K.Lees, MelissaLoughlin, SamMale, AlisonMorrogh, DeborahRosser, ElisabethScott, RichardWilson, LouiseBeleza, AnaDeshpande, CharuFlinter, FrancesHolder, MurielIrving, MelitaIzatt, LouiseJosifova, DraganaMohammed, ShehlaMolenda, AnetaRobert, LeemaRoworth, WendyRuddy, DeborahRyten, MinaYau, ShuBennett, ChristopherBlyth, MoiraCampbell, JenniferCoates, AndreaDobbie, AngusHewitt, SarahHobson, EmmaJackson, EilidhJewell, RosalynKraus, AlisonPrescott, KatrinaSheridan, EamonnThomson, JennyBradshaw, KirstyDixit, AbhijitEason, JacquelineHaines, RebeccaHarrison, RachelMutch, StaceySarkar, AjoySearle, ClaireShannon, NoraSharif, AbidSuri, MohnishVasudevan, PradeepCanham, NatalieEllis, IanGreenhalgh, LynnHoward, EmmaStinton, VictoriaSwale, AndrewWeber, AstridBanka, SiddharthBreen, CatherineBriggs, TracyBurkitt-Wright, EmmaChandler, KateClayton-Smith, JillDonnai, DianDouzgou, SofiaGaunt, LorraineJones, ElizabethKerr, BronwynLangley, ClaireMetcalfe, KaySmith, AudreyWright, RonnieBourn, DavidBurn, JohnFisher, RichardHellens, SteveHenderson, AlexMontgomery, TaraSplitt, MirandaStraub, VolkerWright, MichaelZwolinski, SimonAllen, ZoeBernhard, BirgittaBrady, AngelaBrooks, ClaireBusby, LouiseClowes, VirginiaGhali, NeetiHolder, SusanIbitoye, RitaWakeling, EmmaBlair, EdwardCarmichael, JennyCilliers, DeirdreClasper, SusanGibbons, RichardKini, UshaLester, TracyNemeth, AndreaPoulton, JoannaPrice, SueShears, DebbieStewart, HelenWilkie, AndrewAlbaba, ShadiBaker, DuncanBalasubramanian, MeenaJohnson, DianaParker, MichaelQuarrell, OliverStewart, AlisonWilloughby, JoshCrosby, CharleneElmslie, FrancesHomfray, TessaJin, HuilinLahiri, NayanaMansour, SaharMarks, KarenMcEntagart, MerielSaggar, AnandTatton-Brown, KateButler, RachelClarke, AngusCorrin, SianFry, AndrewKamath, ArveenMcCann, EmmaMugalaasi, HoodPottinger, CarolineProcter, AnnieSampson, JulianSansbury, FrancisVarghese, VinodBaralle, DianaCallaway, AlisonCassidy, Emma J.Daniels, StaceyDouglas, AndrewFoulds, NicolaHunt, DavidKharbanda, MiraLachlan, KatherineMercer, CatherineSide, LucyTemple, I. KarenWellesley, DianaAmbrose, J.C.Arumugam, P.Baple, E.L.Bleda, M.Boardman-Pretty, F.Boissiere, J.M.Boustred, C.R.Caulfield, M.J.Chan, G.C.Craig, C.E.H.Daugherty, L.C.de Burca, A.Devereau, A.Elgar, G.Foulger, R.E.Fowler, T.FurióTarí, P.Hackett, J.M.Halai, D.Hamblin, A.Henderson, S.Holman, J.E.Hubbard, T.J.P.Ibáñez, K.Jackson, R.Jones, L.J.Kasperaviciute, D.Kayikci, M.Lahnstein, L.Lawson, K.Leigh, S.E.A.Leong, I.U.S.Lopez, F.J.MaleadyCrowe, F.Mason, J.McDonagh, E.M.Moutsianas, L.Mueller, M.Murugaesu, N.Need, A.C.Odhams, C.A.Patch, C.Perez-Gil, D.Polychronopoulos, D.Pullinger, J.Rahim, T.Rendon, A.Riesgo-Ferreiro, P.Rogers, T.Ryten, M.Savage, K.Sawant, K.Scott, R.H.Siddiq, A.Sieghart, A.Smedley, D.Smith, K.R.Sosinsky, A.Spooner, W.Stevens, H.E.Stuckey, A.Sultana, R.Thomas, E.R.A.Thompson, S.R.Tucci, A.Walsh, E.Watters, S.A.Welland, M.J.Williams, E.Witkowska, K.Acosta, Maria T.Adam, MargaretAdams, David R.Agrawal, Pankaj B.Alejandro, Mercedes E.Alvey, JustinAmendola, LauraAndrews, AshleyAshley, Euan A.Azamian, Mahshid S.Bacino, Carlos A.Bademci, GuneyBaker, EvaBalasubramanyam, AshokBaldridge, DustinBale, JimBamshad, MichaelBarbouth, DeborahBayrak-Toydemir, PinarBeck, AnitaBeggs, Alan H.Behrens, EdwardBejerano, GillBennet, JimmyBerg-Rood, BeverlyBernstein, Jonathan A.Berry, Gerard T.Bican, AnnaBivona, StephanieBlue, ElizabethBohnsack, JohnBonnenmann, CarstenBonner, DevonBotto, LorenzoBoyd, BrennaBriere, Lauren C.Brokamp, EllyBrown, GabrielleBurke, Elizabeth A.Burrage, Lindsay C.Butte, Manish J.Byers, PeterByrd, William E.Carey, JohnCarrasquillo, OlveenPeter Chang, Ta ChenChanprasert, SirisakChao, Hsiao-TuanClark, Gary D.Coakley, Terra R.Cobban, Laurel A.Cogan, Joy D.Coggins, MatthewCole, F. SessionsColley, Heather A.Cooper, Cynthia M.Craigen, William J.Crouse, Andrew B.Cunningham, MichaelD'Souza, PrecillaDai, HongzhengDasari, SurendraDavids, MariskaDayal, Jyoti G.Deardorff, MatthewDell'Angelica, Esteban C.Dhar, Shweta U.Dipple, KatrinaDoherty, DanielDorrani, NaghmehDouine, Emilie D.Draper, David D.Duncan, LauraEarl, DawnEckstein, David J.Emrick, Lisa T.Eng, Christine M.Esteves, CeciliaEstwick, TyraFalk, MarniFernandez, LilianaFerreira, CarlosFieg, Elizabeth L.Findley, Laurie C.Fisher, Paul G.Fogel, Brent L.Forghani, IrmanFresard, LaureGahl, William A.Glass, IanGodfrey, Rena A.Golden-Grant, KatieGoldman, Alica M.Goldstein, David B.Grajewski, AlanaGroden, Catherine A.Gropman, Andrea L.Gutierrez, IrmaHahn, SihounHamid, RizwanHanchard, Neil A.Hassey, KellyHayes, NicholeHigh, FrancesHing, AnneHisama, Fuki M.Holm, Ingrid A.Hom, JasonHorike-Pyne, MarthaHuang, AldenHuang, YongIsasi, RosarioJamal, FarihaJarvik, Gail P.Jarvik, JeffreyJayadev, SumanJohnston, Jean M.Karaviti, LefkotheaKelley, Emily G.Kennedy, JenniferKiley, DanaKohane, Isaac S.Kohler, Jennefer N.Krakow, DeborahKrasnewich, Donna M.Kravets, ElijahKorrick, SusanKoziura, MaryKrier, Joel B.Lalani, Seema R.Lam, ByronLam, ChristinaLanpher, Brendan C.Lanza, Ian R.Lau, C. ChristopherLeBlanc, KimberlyLee, Brendan H.Lee, HaneLevitt, RoyLewis, Richard A.Lincoln, Sharyn A.Liu, PengfeiLiu, Xue ZhongLongo, NicolaLoo, Sandra K.Loscalzo, JosephMaas, Richard L.Macnamara, Ellen F.MacRae, Calum A.Maduro, Valerie V.Majcherska, Marta M.Mak, BryanMalicdan, May Christine V.Mamounas, Laura A.Manolio, Teri A.Mao, RongMaravilla, KennethMarkello, Thomas C.Marom, RonitMarth, GaborMartin, Beth A.Martin, Martin G.Martínez-Agosto, Julian A.Marwaha, ShrutiMcCauley, JacobMcCormack, Colleen E.McCray, Alexa T.McGee, ElisabethMefford, HeatherMerritt, J. LawrenceMight, MatthewMirzaa, GhaydaMorava, EvaMoretti, Paolo M.Morimoto, MarieMulvihill, John J.Murdock, David R.Nakano-Okuno, MarikoNath, AviNelson, Stan F.Newman, John H.Nicholas, Sarah K.Nickerson, DeborahNieves-Rodriguez, ShirleyNovacic, DonnaOglesbee, DevinOrengo, James P.Pace, LauraPak, StephenPallais, J. CarlPapp, Jeanette C.Parker, Neil H.Phillips, John A.Posey, Jennifer E.Potocki, LorrainePusey, Barbara N.Quinlan, AaronRaskind, WendyRaja, Archana N.Rao, Deepak A.Renteria, GeneceeReuter, Chloe M.Rives, LynetteRobertson, Amy K.Rodan, Lance H.Rosenfeld, Jill A.Rosenwasser, NatalieRuzhnikov, MauraSacco, RalphSampson, Jacinda B.Samson, Susan L.Saporta, MarioScott, C. RonSchaechter, JudySchedl, TimothyScott, Daryl A.Sharma, PrashantShin, JimannSigner, RebeccaSillari, Catherine H.Silverman, Edwin K.Sinsheimer, Janet S.Sisco, KathySmith, Edward C.Smith, Kevin S.Solem, EmilySolnica-Krezel, LiliannaStoler, Joan M.Stong, NicholasSullivan, Jennifer A.Sun, AngelaSutton, ShirleySweetser, David A.Sybert, VirginiaTabor, Holly K.Tamburro, Cecelia P.Tekin, MustafaTelischi, FredThorson, WillaTifft, Cynthia J.Toro, CamiloTran, Alyssa A.Tucker, Brianna M.Urv, Tiina K.Vanderver, AdelineVelinder, MattViskochil, DaveVogel, Tiphanie P.Wahl, Colleen E.Wallace, StephanieWalley, Nicole M.Walsh, Chris A.Walker, MelissaWambach, JenniferWan, JijunWang, Lee-KaiWangler, Michael F.Ward, Patricia A.Wegner, DanielWener, MarkWenger, TaraPerry, Katherine WesselingWesterfield, MonteWheeler, Matthew T.Whitlock, JordanWolfe, Lynne A.Woods, Jeremy D.Yamamoto, ShinyaYang, JohnYu, GuoyunZastrow, Diane B.Zhao, ChunliZuchner, StephanJeffries, LaurenMis, Emily K.McWalter, KirstyDonkervoort, SandraBrodsky, Nina N.Carpier, Jean-MarieJi, WeizhenIonita, CristianRoy, BhaskarMorrow, Jon S.Darbinyan, ArmineIyer, KrishnaAul, Ritu B.Chao, Katherine R.Cobbold, LauraCohen, StaceyCustodio, Helena M.Drummond-Borg, MargaretFinanger, ErikaHainline, Bryan E.Helbig, IngoHewson, StacyHu, YingJackson, AdamKonstantino, MonicaLeach, Meganne E.McCormick, DavidNelson, StanleyNguyen, JoanneNugent, KimberlyOrtega, LucyGoodkin, Howard P.Roeder, ElizabethRoy, SaniSapp, KatieSaade, DimahSisodiya, Sanjay M.Stals, KarenTowner, ShelleyWilson, WilliamKhokha, Mustafa K.Bönnemann, Carsten G.Lucas, Carrie L.Lakhani, Saquib A.
In Genetics in Medicine February 2024 26(2)
Academic Journal
Mol Autism
Molecular Autism, Vol 15, Iss 1, Pp 1-16 (2024)
EDEN-STAARS team, Garg, S, Slevin, H, Kehinde, F, Begum-Ali, J, Ellis, C, Burkitt-Wright, E, Green, J, Johnson, M H, Pasco, G, Charman, T & Jones, E J H 2024, 'Developmental trajectories in infants and pre-school children with Neurofibromatosis 1', Molecular Autism, vol. 15, no. 1, 45. https://doi.org/10.1186/s13229-024-00621-5
Academic Journal
Rodríguez-Palmero, AgustíBoerrigter, Melissa MariaGómez-Andrés, DavidAldinger, Kimberly A.Marcos-Alcalde, ÍñigoPopp, BerntEverman, David B.Lovgren, Alysia KernArpin, StephanieBahrambeigi, VahidBeunders, GeaBisgaard, Anne-MarieBjerregaard, V. A.Bruel, Ange-LineChallman, Thomas D.Cogné, BenjaminCoubes, Christinede Man, Stella A.Denommé-Pichon, Anne-SophieDye, Thomas J.Elmslie, FrancesFeuk, LarsGarcía-Miñaúr, SixtoGertler, TracyGiorgio, ElisaGruchy, NicolasHaack, Tobias B.Haldeman-Englert, Chad R.Haukanes, Bjørn IvarHoyer, JulianeHurst, Anna C. E.Isidor, BertrandSoller, Maria JohanssonKushary, SulagnaKvarnung, MalinLandau, Yuval E.Leppig, Kathleen A.Lindstrand, AnnaKleinendorst, LotteMacKenzie, AlexMandrile, GiorgiaMendelsohn, Bryce A.Moghadasi, SetarehMorton, Jenny E.Moutton, SebastienMüller, Amelie J.O’Leary, MelaniePacio-Míguez, MartaPalomares-Bralo, MariaParikh, SumitPfundt, RolphPode-Shakked, BenRauch, AnitaRepnikova, ElenaRevah-Politi, AnyaRoss, Meredith J.Ruivenkamp, Claudia A. L.Sarrazin, ElisabethSavatt, Juliann M.Schlüter, AgathaSchönewolf-Greulich, BittenShad, ZohraShaw-Smith, CharlesShieh, Joseph T.Shohat, MottiSpranger, StephanieThiese, HeidiMau-Them, Frederic Tranvan Bon, Bregjevan de Burgt, Inekevan de Laar, Ingrid M. B. H.van Drie, Esméevan Haelst, Mieke M.van Ravenswaaij-Arts, Conny M.Verdura, EdgardVitobello, AntonioWaldmüller, StephanWhiting, SharonZweier, ChristianePrada, Carlos E.de Vries, Bert B. A.Dobyns, William B.Reiter, Simone F.Gómez-Puertas, PaulinoPujol, AuroraTümer, Zeynep
Genetics in medicine. 23(5):888-899
Academic Journal
Joanna KaplanisKaitlin E. SamochaLaurens WielZhancheng ZhangKevin J. ArvaiRuth Y. EberhardtGiuseppe GalloneStefan H. LelieveldHilary C. MartinJeremy F. McRaePatrick J. ShortRebecca I. ToreneElke de BoerPetr DanecekEugene J. GardnerNi HuangJenny LordIñigo MartincorenaRolph PfundtMargot R. F. ReijndersAlison YeungHelger G. YntemaSilvia BorrasCaroline ClarkJohn DeanZosia MiedzybrodzkaAlison RossStephen TennantTabib DabirDeirdre DonnellyMervyn HumphreysAlex MageeVivienne McConnellShane McKeeSusan McNerlanPatrick J. MorrisonGillian ReaFiona StewartTrevor ColeNicola CooperLisa Cooper-CharlesHelen CoxLily IslamJoanna JarvisRebecca KeelagherDerek LimDominic McMullanJenny MortonSwati NaikMary O’DriscollKai-Ren OngDeborah OsioNicola RaggeSarah TurtonJulie VogtDenise WilliamsSimon BodekAlan DonaldsonAlison HillsKaren LowRuth Newbury-EcobAndrew M. NormanEileen RobertsIngrid ScurrSarah SmithsonMadeleine TooleySteve AbbsRuth ArmstrongCarolyn DunnSimon HoldenSoo-Mi ParkJoan PatersonLucy RaymondEvan ReidRichard SandfordIngrid SimonicMarc TischkowitzGeoff WoodsLisa BradleyJoanne ComerfordAndrew GreenSally LynchShirley McQuaidBrendan MullaneyJonathan BergDavid GoudieEleni MavrakJoanne McLeanCatherine McWilliamEleanor ReaveyTara AzamElaine ClearyAndrew JacksonWayne LamAnne LampeDavid MooreMary PorteousEmma BapleJúlia BaptistaCarole BrewerBruce CastleEmma KivuvaMartina OwensJulia RankinCharles Shaw-SmithClaire TurnerPeter TurnpennyCarolyn TysoeTherese BradleyRosemarie DavidsonCarol GardinerShelagh JossEsther KinningCheryl LongmanRuth McGowanVictoria MurdayDaniela PilzEdward TobiasMargo WhitefordNicola WilliamsAngela BarnicoatEmma ClementFrancesca FaravelliJane HurstLucy JenkinsWendy JonesV. K. Ajith KumarMelissa LeesSam LoughlinAlison MaleDeborah MorroghElisabeth RosserRichard ScottLouise WilsonAna BelezaCharu DeshpandeFrances FlinterMuriel HolderMelita IrvingLouise IzattDragana JosifovaShehla MohammedAneta MolendaLeema RobertWendy RoworthDeborah RuddyMina RytenShu YauChristopher BennettMoira BlythJennifer CampbellAndrea CoatesAngus DobbieSarah HewittEmma HobsonEilidh JacksonRosalyn JewellAlison KrausKatrina PrescottEamonn SheridanJenny ThomsonKirsty BradshawAbhijit DixitJacqueline EasonRebecca HainesRachel HarrisonStacey MutchAjoy SarkarClaire SearleNora ShannonAbid SharifMohnish SuriPradeep VasudevanNatalie CanhamIan EllisLynn GreenhalghEmma HowardVictoria StintonAndrew SwaleAstrid WeberSiddharth BankaCatherine BreenTracy BriggsEmma Burkitt-WrightKate ChandlerJill Clayton-SmithDian DonnaiSofia DouzgouLorraine GauntElizabeth JonesBronwyn KerrClaire LangleyKay MetcalfeAudrey SmithRonnie WrightDavid BournJohn BurnRichard FisherSteve HellensAlex HendersonTara MontgomeryMiranda SplittVolker StraubMichael WrightSimon ZwolinskiZoe AllenBirgitta BernhardAngela BradyClaire BrooksLouise BusbyVirginia ClowesNeeti GhaliSusan HolderRita IbitoyeEmma WakelingEdward BlairJenny CarmichaelDeirdre CilliersSusan ClasperRichard GibbonsUsha KiniTracy LesterAndrea NemethJoanna PoultonSue PriceDebbie ShearsHelen StewartAndrew WilkieShadi AlbabaDuncan BakerMeena BalasubramanianDiana JohnsonMichael ParkerOliver QuarrellAlison StewartJosh WilloughbyCharlene CrosbyFrances ElmslieTessa HomfrayHuilin JinNayana LahiriSahar MansourKaren MarksMeriel McEntagartAnand SaggarKate Tatton-BrownRachel ButlerAngus ClarkeSian CorrinAndrew FryArveen KamathEmma McCannHood MugalaasiCaroline PottingerAnnie ProcterJulian SampsonFrancis SansburyVinod VargheseDiana BaralleAlison CallawayEmma J. CassidyStacey DanielsAndrew DouglasNicola FouldsDavid HuntMira KharbandaKatherine LachlanCatherine MercerLucy SideI. Karen TempleDiana WellesleyLisenka E. L. M. VissersJane JuusolaCaroline F. WrightHan G. BrunnerHelen V. FirthDavid R. FitzPatrickJeffrey C. BarrettMatthew E. HurlesChristian GilissenKyle Retterer
Nature
Nature, 586, 7831, pp. 757-762
Kaplanis, J, Samocha, KE, Wiel, L, Zhang, Z, Arvai, KJ, Eberhardt, RY, Gallone, G, Lelieveld, SH, Martin, HC, McRae, JF, Short, PJ, Torene, RI, de, B E & Retterer, K 2020, ' Evidence for 28 genetic disorders discovered by combining healthcare and research data ', Nature, vol. 586, no. 7831, pp. 757-762 . https://doi.org/10.1038/s41586-020-2832-5
Academic Journal
Anne H. O’Donnell-LuriaLynn S. PaisVíctor FaundesJordan C. WoodAbigail SvedenVictor LuriaRami Abou JamraAndrea AccogliKimberly AmburgeyBritt Marie AnderlidSilvia Azzarello-BurriAlice A. BasingerClaudia BianchiniLynne M. BirdRebecca BuchertWilfrid CarreSophia CeulemansPerrine CharlesHelen CoxLisa CullitonAurora CurròFlorence DemurgerJames J. DowlingBenedicte Duban-BeduChristèle DubourgSaga Elise EisetLuis F. EscobarAlessandra FerrariniTobias B. HaackMona HashimSolveig HeideKatherine L. HelbigIngo HelbigRaul HerediaDelphine HéronBertrand IsidorAmy R. JonassonPascal JosetBoris KerenFernando KokHester Y. KroesAlinoë LavillaureixXin LuSaskia M. MaasGustavo H.B. MaegawaCarlo L.M. MarcelisPaul R. MarkMarcelo R. MasruhaHeather M. McLaughlinKirsty McWalterEsther U. MelchingerSaadet Mercimek-AndrewsCaroline NavaManuela PendziwiatRichard PersonGian Paolo RamelliLuiza L.P. RamosAnita RauchCaitlin ReaveyAlessandra RenieriAngelika RießAmarilis Sanchez-ValleShifteh SattarCarol SaundersNiklas SchwarzThomas SmolMyriam SrourKatharina SteindlSteffen SyrbeJenny C. TaylorAida TelegrafiIsabelle ThiffaultDoris A. TraunerHelio van der LindenSilvana van KoningsbruggenLaurent VillardIda VogelJulie VogtYvonne G. WeberIngrid M. WentzensenElysa WidjajaJaroslav ZakSamantha BaxterSiddharth BankaLance H. RodanJeremy F. McRaeStephen ClaytonTomas W. FitzgeraldJoanna KaplanisElena PrigmoreDiana RajanAlejandro SifrimStuart AitkenNadia AkawiMohsan AlviKirsty AmbridgeDaniel M. BarrettTanya BayzetinovaPhilip JonesWendy D. JonesDaniel KingNetravathi KrishnappaLaura E. MasonTarjinder SinghAdrian R. TiveyMunaza AhmedUruj AnjumHayley ArcherRuth ArmstrongJana AwadaMeena BalasubramanianDiana BaralleAngela BarnicoatPaul BatstoneDavid BatyChris BennettJonathan BergBirgitta BernhardA. 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American Journal of Human Genetics, 104, 6, pp. 1210-1222
Deciphering Developmental Disorders (DDD) Study 2019, 'Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy', American Journal of Human Genetics, vol. 104, no. 6, pp. 1210-1222. https://doi.org/10.1016/j.ajhg.2019.03.021
Deciphering Developmental Disorders (DDD) Study 2019 'Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy' BioRxiv, Cold Spring Harbor Laboratory Press. https://doi.org/10.1101/566091
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Academic Journal
Sen, ParthaYang, YapingNavarro, ColbySilva, IrisSzafranski, PrzemyslawKolodziejska, Katarzyna E.Dharmadhikari, Avinash V.Mostafa, HasnaaKozakewich, HarryKearney, DebraCahill, John B.Whitt, MerrissaBilic, MashaMargraf, LindaCharles, AdrianGoldblatt, JackGibson, KathleenLantz, Patrick E.Garvin, A. JulianPetty, JohnKiblawi, ZeinaZuppan, CraigMcConkie-Rosell, AllynMcDonald, Marie T.Peterson-Carmichael, Stacey L.Gaede, Jane T.Shivanna, BinoySchady, DeborahFriedlich, Philippe S.Hays, Stephen R.Palafoll, Irene ValenzuelaSiebers-Renelt, UlrikeBohring, AxelFinn, Laura S.Siebert, Joseph R.Galambos, CsabaNguyen, LananhRiley, MelissaChassaing, NicolasVigouroux, AdelineRocha, GustavoFernandes, SusanaBrumbaugh, JaneRoberts, KariLuk, Ho-mingLo, Ivan F. M.Lam, StephenGerychova, RomanaJezova, MartaValaskova, IvetaFellmann, FlorenceAfshar, KatayounGiannoni, EricMuhlethaler, VincentLiang, JinlongBeckmann, Jacques S.Lioy, JanetDeshmukh, HiteshSrinivasan, LakshmiSwarr, Daniel T.Sloman, MelissaShaw-Smith, Charlesvan Loon, Rosa LauraHagman, CeciliaSznajer, YvesBarrea, CatherineGalant, ChristineDetaille, ThierryWambach, Jennifer A.Cole, F. SessionsHamvas, AaronPrince, Lawrence S.Diderich, Karin E. M.Brooks, Alice S.Verdijk, Robert M.Ravindranathan, HariSugo, EllaMowat, DavidBaker, Michael L.Langston, ClaireWelty, StephenStankiewicz, Pawel
Human Mutation. 34(6):801-811
Academic Journal
Lynette G. SadleirEmily I. MountierDeepak GillSuzanne DavisCharuta JoshiCatherine DeVileManju A. KurianSimone MandelstamElaine WirrellKatherine C. NickelsHema R. MuraliGemma CarvillCandace T. MyersHeather C. MeffordIngrid E. SchefferA. Paul BevanAbhijit DixitAbigail PridhamAdrian R. TiveyAjoy SarkarAlan DonaldsonAlan FryerAlejandro SifrimAlex HendersonAlex MageeAlexis DuncanAlison KrausAlison MaleAlison RossAmanda CollinsAnand SaggarAndrea CoatesAndrea NemethAndrew FryAndrew GreenAndrew JacksonAndrew NormanAngela BarnicoatAngela BradyAngela DouglasAngus ClarkeAngus DobbieAnn SelbyAnna MiddletonAnne LampeAnneke SellerAnnie ProcterKarenza EvansAnthony VandersteenAstrid WeberAudrey SmithAudrey TorokwaBeckie KaembaBecky TreacyBeiyuan FuBen HuttonBirgitta BernhardBronwyn KerrBruce CastleCarina DonnellyCarol GardinerCarol ScottCarole BrewerCaroline F. WrightCaroline LangmanCaroline OgilvieCaroline PottingerCarolyn TysoeCat TaylorCatherine McWilliamCharles Shaw-SmithCharu DeshpandeCheryl LongmanCheryl SequeiraChirag PatelChris BennettChris NellåkerChristopher WraggClaire KirkClaire TurnerDaniel KingDaniel M. BarrettDaniel PerrettDaniela T. PilzDanielle WalkerDavid BatyDavid BohannaDavid BournDavid GoudieDavid J. BunyanDavid JonesDavid MooreDavid R. FitzPatrickDebbie RiceDebbie ShearsDeirdre CilliersDeirdre DonnellyDenise WilliamsDerek LimDhavendra KumarEmma McCannDian DonnaiDiana BaralleDiana JohnsonDiana RajanDiana WellesleyDominic J McMullanDouglas SimpkinDragana JosifovaDylan de VriesEamonn SheridanEddy MaherEdward BlairEileen RobertsElena ChatzimichaliElena PrigmoreElisabeth RosserElizabeth JonesElizabeth SweeneyEmily WilkinsonEmma GrayPipelines StaffEmma HobsonEmma KivuvaEmma MilesEmma ShearingEmma WakelingEsther KinningEugene BraginEve L. CoomberFentang YangFiona ConnellFiona StewartFrances ElmslieFrances FlinterG. Jawahar SwaminathanGail KirbyGareth CrossGemma DevlinGeoff WoodsGeorgina HollingsworthGillian RobertsGordon LowtherHarinder GillHayley ArcherHelen CoxHelen FirthHelen KingstonHelen MurphyHelen StewartHelen V. FirthHellen PurnellHood MugalaasiIan EllisIngrid ScurrIngrid SimonicIrina ColgiuJacqueline EasonJana AwadaJane HurstJeffrey C. BarrettJenny MortonJenny ThomsonJeremy McRaeJill Clayton-SmithJoan PatersonJoanna JarvisJoanna KaplanisJoanna PoultonJohn BurnJohn BurtonJohn DeanJohn TolmieJonathan BergJonathan RobertsJonathon WatersJosh RandallJudith GoodshipJulia RankinJulian SampsonJulie PhippsJulie VogtKai-Ren OngKaren MarksKate BrunstromKate ChandlerKate Tatton-BrownKath SmithKatherine I. MorleyKatherine LachlanI. Karen TempleKatherine MartinKatrina PrescottKay MetcalfeKirsten McKayKirsty AmbridgeLara CresswellLaura E. MasonLaura YatesLeema RobertLily IslamLinda SneddonLisa BradleyLiu HeLorraine GauntLouise BourdonLouise BruetonLouise NevittLouise WilsonLucy HarrisonLucy HilyardLucy JenkinsLucy RaymondLynn GreenhalghMarc TischkowitzMargo WhitefordMargriet van KogelenbergMaria Bitner-GlindziczMariella D’AlessandroMartin PollardMatthew E. HurlesMeena BalasubramanianMelissa LeesMelita IrvingMeriel McEntagartMervyn HumphreysMichael ParkerMichael WrightMichael YauMiranda SplittMiranda SquiresMohnish SuriMohsan AlviMoira BlythMorag N. CollinsonMunaza AhmedMuriel HolderNadia AkawiNatalie CanhamNeeti GhaliNetravathi KrishnappaNicola CooperNicola FouldsNicola RaggeNicola WilliamsNigel P. CarterNora ShannonNorman PrattOliver QuarrellPaul BatstonePaul RobertsPeter EllisPeter TurnpennyPhilip GreenePhilip JonesPradeep VasudevanRachel HarrisonRaheleh RahbariRay MillerRichard FisherRichard GibbonsRichard SandfordRichard ScottRob AndrewsRohan TaylorRoldan SingzonRose HawkinsRosemarie DavidsonRosemary KelsellRosie O’SheaRuby BanerjeeRuth ArmstrongRuth McGowanRuth Newbury-EcobSaba SharifMark TeinSaeed Al-TurkiSahar MansourSally Ann LynchSally DaviesSandra KazembeSandra Louzada Gomes PereiraSara WidaaSarah EdkinsSarah EverestSarah HewittSarah SmithsonSarah WallwarkSarah WilcoxSarju MehtaSebastian S. GeretyShalaka SamantShane McKeeShehla MohammedShelagh JossSian EllardSian MorganSiddhartha BankaSimon BrentSimon HoldenSofia DouzgouSoo-Mi ParkStephen ClaytonStephen HellensStewart PayneStuart AitkenStuart IngramSue PriceSusan ClasperSusan GribbleSusan HolderSusan McNerlanSusan TomkinsSusann SchweigerSuzannah J. BumpsteadSwati NaikTabib DabirTanya BayzetinovaTara MontgomeryTarjinder SinghTessa HomfrayTina FendickTomas W. FitzgeraldTrevor ColeUna MayeUruj AnjumUsha KiniV. K. Ajith KumarVictoria HarrisonVictoria MurdayVijaya ParthibanVinod VargheseVirginia ClowesVivienne McConnellVivienne SuttonVolker StraubWayne LamWendy D. JonesYanick CrowZara SkittZosia Miedzybrodzka
Neurology
Sadleir, LG, Mountier, EI, Gill, D, Davis, S, Joshi, C, DeVile, C, Kurian, MA, Study, DDD, Mandelstam, S, Wirrell, E, Nickels, KC, Murali, HR, Carvill, G & Scheffer, IE 2017, ' Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. ', Neurology . https://doi.org/10.1212/wnl.0000000000004331
Academic Journal
European journal of human genetics : EJHG
United States
United Kingdom
England
Verheije, R, Kupchik, G S, Isidor, B, Kroes, H Y, Lynch, S A, Hawkes, L, Hempel, M, Gelb, B D, Ghoumid, J, D’amours, G, Chandler, K, Dubourg, C, Loddo, S, Tümer, Z, Shaw-smith, C, Nizon, M, Shevell, M, Van Hoof, E, Anyane-yeboa, K, Cerbone, G, Clayton-smith, J, Cogné, B, Corre, P, Corveleyn, A, De Borre, M, Hjortshøj, T D, Fradin, M, Gewillig, M, Goldmuntz, E, Hens, G, Lemyre, E, Journel, H, Kini, U, Kortüm, F, Le Caignec, C, Novelli, A, Odent, S, Petit, F, Revah-politi, A, Stong, N, Strom, T M, Van Binsbergen, E, Devriendt, K & Breckpot, J 2019, 'Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability', European Journal of Human Genetics, vol. 27, no. 2, pp. 278-290. https://doi.org/10.1038/s41431-018-0281-5
Academic Journal
Hum Mutat
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A-S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, van Haeringen, A, van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, 'Further delineation of Malan syndrome', Human Mutation, vol. 39, no. 9, pp. 1226-1237. https://doi.org/10.1002/humu.23563
Priolo, M, Schanze, D, Tatton-Brown, K, Mulder, P A, Tenorio, J, Kooblall, K, Acero, I H, Alkuraya, F S, Arias, P, Bernardini, L, Bijlsma, E K, Cole, T, Coubes, C, Dapia, I, Davies, S, Di Donato, N, Elcioglu, N H, Fahrner, J A, Foster, A, González, N G, Huber, I, Iascone, M, Kaiser, A S, Kamath, A, Liebelt, J, Lynch, S A, Maas, S M, Mammì, C, Mathijssen, I B, McKee, S, Menke, L A, Mirzaa, G M, Montgomery, T, Neubauer, D, Neumann, T E, Pintomalli, L, Pisanti, M A, Plomp, A S, Price, S, Salter, C, Santos-Simarro, F, Sarda, P, Segovia, M, Shaw-Smith, C, Smithson, S, Suri, M, Valdez, R M, Van Haeringen, A, Van Hagen, J M, Zollino, M, Lapunzina, P, Thakker, R V, Zenker, M & Hennekam, R C 2018, 'Further delineation of Malan syndrome', Human Mutation, vol. 39, no. 9, pp. 1226-1237. https://doi.org/10.1002/humu.23563
Academic Journal
Víctor FaundesWilliam G. NewmanLaura BernardiniNatalie CanhamJill Clayton-SmithBruno DallapiccolaSally J. DaviesMichelle K. DemosAmy GoldmanHarinder GillRachel HortonBronwyn KerrDhavendra KumarAnna LehmanShane McKeeJenny MortonMichael J. ParkerJulia RankinLisa RobertsonI. Karen TempleShelin AdamChristèle du SouichAlison M. ElliottJill MwenifumboTanya N. NelsonClara van KarnebeekJan M. FriedmanJeremy F. McRaeStephen ClaytonTomas W. FitzgeraldJoanna KaplanisElena PrigmoreDiana RajanAlejandro SifrimStuart AitkenNadia AkawiMohsan AlviKirsty AmbridgeDaniel M. BarrettTanya BayzetinovaPhilip JonesWendy D. JonesDaniel KingNetravathi KrishnappaLaura E. MasonTarjinder SinghAdrian R. TiveyMunaza AhmedUruj AnjumHayley ArcherRuth ArmstrongJana AwadaMeena BalasubramanianSiddharth BankaDiana BaralleAngela BarnicoatPaul BatstoneDavid BatyChris BennettJonathan BergBirgitta BernhardA. Paul BevanMaria Bitner-GlindziczEdward BlairMoira BlythDavid BohannaLouise BourdonDavid BournLisa BradleyAngela BradySimon BrentCarole BrewerKate BrunstromDavid J. BunyanJohn BurnBruce CastleKate ChandlerElena ChatzimichaliDeirdre CilliersAngus ClarkeSusan ClasperVirginia ClowesAndrea CoatesTrevor ColeIrina ColgiuAmanda CollinsMorag N. CollinsonFiona ConnellNicola CooperHelen CoxLara CresswellGareth CrossYanick CrowMariella D’AlessandroTabib DabirRosemarie DavidsonSally DaviesDylan de VriesJohn DeanCharu DeshpandeGemma DevlinAbhijit DixitAngus DobbieAlan DonaldsonDian DonnaiDeirdre DonnellyCarina DonnellyAngela DouglasSofia DouzgouAlexis DuncanJacqueline EasonSian EllardIan EllisFrances ElmslieKarenza EvansSarah EverestTina FendickRichard FisherFrances FlinterNicola FouldsAndrew FryAlan FryerCarol GardinerLorraine GauntNeeti GhaliRichard GibbonsJudith GoodshipDavid GoudieEmma GrayAndrew GreenPhilip GreeneLynn GreenhalghSusan GribbleRachel HarrisonLucy HarrisonVictoria HarrisonRose HawkinsLiu HeStephen HellensAlex HendersonSarah HewittLucy HildyardEmma HobsonSimon HoldenMuriel HolderSusan HolderGeorgina HollingsworthTessa HomfrayMervyn HumphreysJane HurstBen HuttonStuart IngramMelita IrvingLily IslamAndrew JacksonJoanna JarvisLucy JenkinsDiana JohnsonElizabeth JonesDragana JosifovaShelagh JossBeckie KaembaSandra KazembeRosemary KelsellHelen KingstonUsha KiniEsther KinningGail KirbyClaire KirkEmma KivuvaAlison KrausV.K. Ajith KumarKatherine LachlanWayne LamAnne LampeCaroline LangmanMelissa LeesDerek LimCheryl LongmanGordon LowtherSally A. LynchAlex MageeEddy MaherAlison MaleSahar MansourKaren MarksKatherine MartinUna MayeEmma McCannVivienne McConnellMeriel McEntagartRuth McGowanKirsten McKayDominic J. McMullanSusan McNerlanCatherine McWilliamSarju MehtaKay MetcalfeAnna MiddletonZosia MiedzybrodzkaEmma MilesShehla MohammedTara MontgomeryDavid MooreSian MorganHood MugalaasiVictoria MurdayHelen MurphySwati NaikAndrea NemethLouise NevittRuth Newbury-EcobAndrew NormanRosie O’SheaCaroline OgilvieKai-Ren OngSoo-Mi ParkChirag PatelJoan PatersonStewart PayneDaniel PerrettJulie PhippsDaniela T. PilzMartin PollardCaroline PottingerJoanna PoultonNorman PrattKatrina PrescottSue PriceAbigail PridhamAnnie ProcterHellen PurnellOliver QuarrellNicola RaggeRaheleh RahbariJosh RandallLucy RaymondDebbie RiceLeema RobertEileen RobertsJonathan RobertsPaul RobertsGillian RobertsAlison RossElisabeth RosserAnand SaggarShalaka SamantJulian SampsonRichard SandfordAjoy SarkarSusann SchweigerRichard ScottIngrid ScurrAnn SelbyAnneke SellerCheryl SequeiraNora ShannonSaba SharifCharles Shaw-SmithEmma ShearingDebbie ShearsEamonn SheridanIngrid SimonicRoldan SingzonZara SkittAudrey SmithKath SmithSarah SmithsonLinda SneddonMiranda SplittMiranda SquiresFiona StewartHelen StewartVolker StraubMohnish SuriVivienne SuttonGanesh Jawahar SwaminathanElizabeth SweeneyKate Tatton-BrownCat TaylorRohan TaylorMark TeinJenny ThomsonMarc TischkowitzSusan TomkinsAudrey TorokwaBecky TreacyClaire TurnerPeter TurnpennyCarolyn TysoeAnthony VandersteenVinod VarghesePradeep VasudevanParthiban VijayarangakannanJulie VogtEmma WakelingSarah WallwarkJonathon WatersAstrid WeberDiana WellesleyMargo WhitefordSara WidaaSarah WilcoxEmily WilkinsonDenise WilliamsNicola WilliamsLouise WilsonGeoff WoodsChristopher WraggMichael WrightLaura YatesMichael YauChris NellåkerMichael ParkerHelen V. FirthCaroline F. WrightDavid R. FitzPatrickJeffrey C. BarrettMatthew E. . Hurles
Faundes, V, Newman, W G, Bernardini, L, Canham, N, Clayton-Smith, J, Dallapiccola, B, Davies, S J, Demos, M K, Goldman, A, Gill, H, Horton, R, Kerr, B, Kumar, D, Lehman, A, McKee, S, Morton, J, Parker, M J, Rankin, J, Robertson, L, Temple, I K & Banka, S 2018, 'Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.', American Journal of Human Genetics, vol. 102, no. 1, pp. 175-187. https://doi.org/10.1016/j.ajhg.2017.11.013
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