부산대학교 도서관

McRae, JF; Clayton, S; Fitzgerald, TW; Kaplanis, J; Prigmore, E; Rajan, D; Sifrim, A; Aitken, S; Akawi, N; Alvi, M; Ambridge, K; Barrett, DM; Bayzetinova, T; Jones, P; Jones, WD; King, D; Krishnappa, N; Mason, LE; Singh, T; Tivey, AR; Ahmed, M; Anjum, U; Archer, H; Armstrong, R; Awada, J; Balasubramanian, M; Banka, S; Baralle, D; Barnicoat, A; Batstone, P; Baty, D; Bennett, C; Berg, J; Bernhard, B; Bevan, AP; Bitner-Glindzicz, M; Blair, E; Blyth, M; Bohanna, D; Bourdon, L; Bourn, D; Bradley, L; Brady, A; Brent, S; Brewer, C; Brunstrom, K; Bunyan, DJ; Burn, J; Canham, N; Castle, B; Chandler, K; Chatzimichali, E; Cilliers, D; Clarke, A; Clasper, S; Clayton-Smith, J; Clowes, V; Coates, A; Cole, T; Colgiu, I; Collins, A; Collinson, MN; Connell, F; Cooper, N; Cox, H; Cresswell, L; Cross, G; Crow, Y; D’Alessandro, M; Dabir, T; Davidson, R; Davies, S; de Vries, D; Dean, J; Deshpande, C; Devlin, G; Dixit, A; Dobbie, A; Donaldson, A; Donnai, D; Donnelly, D; Donnelly, C; Douglas, A; Douzgou, S; Duncan, A; Eason, J; Ellard, S; Ellis, I; Elmslie, F; Evans, K; Everest, S; Fendick, T; Fisher, R; Flinter, F; Foulds, N; Fry, A; Fryer, A; Gardiner, C; Gaunt, L; Ghali, N; Gibbons, R; Gill, H; Goodship, J; Goudie, D; Gray, E; Green, A; Greene, P; Greenhalgh, L; Gribble, S; Harrison, R; Harrison, L; Harrison, V; Hawkins, R; He, L; Hellens, S; Henderson, A; Hewitt, S; Hildyard, L; Hobson, E; Holden, S; Holder, M; Holder, S; Hollingsworth, G; Homfray, T; Humphreys, M; Hurst, J; Hutton, B; Ingram, S; Irving, M; Islam, L; Jackson, A; Jarvis, J; Jenkins, L; Johnson, D; Jones, E; Josifova, D; Joss, S; Kaemba, B; Kazembe, S; Kelsell, R; Kerr, B; Kingston, H; Kini, U; Kinning, E; Kirby, G; Kirk, C; Kivuva, E; Kraus, A; Kumar, D; Kumar, VKA; Lachlan, K; Lam, W; Lampe, A; Langman, C; Lees, M; Lim, D; Longman, C; Lowther, G; Lynch, SA; Magee, A; Maher, E; Male, A; Mansour, S; Marks, K; Martin, K; Maye, U; McCann, E; McConnell, V; McEntagart, M; McGowan, R; McKay, K; McKee, S; McMullan, DJ; McNerlan, S; McWilliam, C; Mehta, S; Metcalfe, K; Middleton, A; Miedzybrodzka, Z; Miles, E; Mohammed, S; Montgomery, T; Moore, D; Morgan, S; Morton, J; Mugalaasi, H; Murday, V; Murphy, H; Naik, S; Nemeth, A; Nevitt, L; Newbury-Ecob, R; Norman, A; O’Shea, R; Ogilvie, C; Ong, K-R; Park, S-M; Parker, MJ; Patel, C; Paterson, J; Payne, S; Perrett, D; Phipps, J; Pilz, DT; Pollard, M; Pottinger, C; Poulton, J; Pratt, N; Prescott, K; Price, S; Pridham, A; Procter, A; Purnell, H; Quarrell, O; Ragge, N; Rahbari, R; Randall, J; Rankin, J; Raymond, L; Rice, D; Robert, L; Roberts, E; Roberts, J; Roberts, P; Roberts, G; Ross, A; Rosser, E; Saggar, A; Samant, S; Sampson, J; Sandford, R; Sarkar, A; Schweiger, S; Scott, R; Scurr, I; Selby, A; Seller, A; Sequeira, C; Shannon, N; Sharif, S; Shaw-Smith, C; Shearing, E; Shears, D; Sheridan, E; Simonic, I; Singzon, R; Skitt, Z; Smith, A; Smith, K; Smithson, S; Sneddon, L; Splitt, M; Squires, M; Stewart, F; Stewart, H; Straub, V; Suri, M; Sutton, V; Swaminathan, GJ; Sweeney, E; Tatton-Brown, K; Taylor, C; Taylor, R; Tein, M; Temple, IK; Thomson, J; Tischkowitz, M; Tomkins, S; Torokwa, A; Treacy, B; Turner, C; Turnpenny, P; Tysoe, C; Vandersteen, A; Varghese, V; Vasudevan, P; Vijayarangakannan, P; Vogt, J; Wakeling, E; Wallwark, S; Waters, J; Weber, A; Wellesley, D; Whiteford, M; Widaa, S; Wilcox, S; Wilkinson, E; Williams, D; Williams, N; Wilson, L; Woods, G; Wragg, C; Wright, M; Yates, L; Yau, M; Nellåker, C; Parker, M; Firth, HV; Wright, CF; FitzPatrick, DR; Barrett, JC; Hurles, ME

Nature
2017, ' Prevalence and architecture of de novo mutations in developmental disorders ', Nature, vol. 542, no. 7642, pp. 433-438 . https://doi.org/10.1038/nature21062
Deciphering Developmental Disorders Study, McRae, J, Clayton, S, Fitzgerald, T W, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, D M, Bayzetinova, T, Jones, P, Jones, W D, King, D, Krishnappa, N, Mason, L, Singh, T, Tivey, A, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Banka, S, Baralle, D, Barnicoat, A J, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, A P, Bitner-Glindzicz, M A K, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, D J, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, EA, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I-G, Collins, A, Collinson, M N, Connell, F C, Cooper, N, Cox, H, Cresswell, L, Cross, G, Crow, Y, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A E, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D R, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Irving, M, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, V K A, Lachlan, K, Lam, W, Lampe, A K, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, S A, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, Maye, U, McConnell, V, McEntagart, M, McKay, K, McGowan, R, Mckee, S, McMullan, D J, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E K, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J E, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A M, Nevitt, L, Newbury-Ecob, R, Norman, A, O’Shea, R, Ogilvie, C, Ong, K, Park, S M, Parker, M J, Patel, C, Paterson, J, Payne, S J, Perrett, D, Phipps, J, Pilz, D T, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A M, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, F L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A K, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, G J, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, I K, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Vogt, J, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellåker, C, Parker, M, Firth, H V, Wright, C F, FitzPatrickd, D R, Barrett, J C & Hurles, M E 2017, 'Prevalence and architecture of de novo mutations in developmental disorders', Nature, vol. 542, no. 7642, pp. 433-438. https://doi.org/10.1038/nature21062

Vos, Theo; Barber, Ryan M; Bell, Brad; Bertozzi-Villa, Amelia; Biryukov, Stan; Bolliger, Ian; Charlson, Fiona; Davis, Adrian; Degenhardt, Louisa; Dicker, Daniel; Duan, Leilei; Erskine, Holly; Feigin, Valery L; Ferrari, Alize J; Fitzmaurice, Christina; Fleming, Thomas; Graetz, Nicholas; Guinovart, Caterina; Haagsma, Juanita; Hansen, Gillian M; Hanson, Sarah Wulf; Heuton, Kyle R; Higashi, Hideki; Kassebaum, Nicholas; Kyu, Hmwe; Laurie, Evan; Liang, Xiofeng; Lofgren, Katherine; Lozano, Rafael; MacIntyre, Michael F; Moradi-Lakeh, Maziar; Naghavi, Mohsen; Nguyen, Grant; Odell, Shaun; Ortblad, Katrina; Roberts, David Allen; Roth, Gregory A; Sandar, Logan; Serina, Peter T; Stanaway, Jeffrey D; Steiner, Caitlyn; Thomas, Bernadette; Vollset, Stein Emil; Whiteford, Harvey; Wolock, Timothy M; Ye, Pengpeng; Zhou, Maigeng; Ãvila, Marco A ; Aasvang, Gunn Marit ; Abbafati, Cristiana ; Ozgoren, Ayse Abbasoglu ; Abd-Allah, Foad ; Aziz, Muna I Abdel ; Abera, Semaw F ; Aboyans, Victor ; Abraham, Jerry P ; Abraham, Biju ; Abubakar, Ibrahim ; Abu-Raddad, Laith J ; Abu-Rmeileh, Niveen ME ; Aburto, Tania C ; Achoki, Tom ; Ackerman, Ilana N ; Adelekan, Ademola ; Ademi, Zanfina ; Adou, Arsène K ; Adsuar, Josef C ; Arnlov, Johan ; Agardh, Emilie E ; Al Khabouri, Mazin J ; Alam, Sayed Saidul ; Alasfoor, Deena ; Albittar, Mohammed I ; Alegretti, Miguel A ; Aleman, Alicia V ; Alemu, Zewdie A ; Alfonso-Cristancho, Rafael ; Alhabib, Samia ; Ali, Raghib ; Alla, Francois ; Allebeck, Peter ; Allen, Peter J ; AlMazroa, Mohammad AbdulAziz ; Alsharif, Ubai ; Alvarez, Elena ; Alvis-Guzman, Nelson ; Ameli, Omid ; Amini, Heresh ; Ammar, Walid ; Anderson, Benjamin O ; Anderson, H. Ross ; Antonio, Carl Abelardo T ; Anwari, Palwasha ; Apfel, Henry ; Arsenijevic, Valentain S Arsic ; Artaman, Al ; Asghar, Rana J ; Assadi, Reza ; Atkins, Lydia S ; Atkinson, Charles ; Badawi, Alaa ; Bahit, Maria C ; Bakfalouni, Talal ; Balakrishnan, Kalpana ; Balalla, Shivanthi ; Banerjee, Amitava ; Barker-Collo, Suzanne L; Barquera, Simon ; Barregard, Lars ; Barrero, Lope H ; Basu, Sanjay ; Basu, Arindam ; Baxter, Amanda ; Beardsley, Justin ; Bedi, Neeraj ; Beghi, Ettore ; Bekele, Tolesa ; Bell, Michelle L ; Benjet, Corina ; Bennett, Derrick A ; Bensenor, Isabela M ; Benzian, Habib ; Bernabe, Eduardo ; Beyene, Tariku J ; Bhala, Neeraj ; Bhalla, Ashish ; Bhutta, Zulfiqar ; Bienhoff, Kelly ; Bikbov, Boris ; Abdulhak, Aref Bin ; Blore, Jed D ; Blyth, Fiona M ; Bohensky, Megan A ; Basara, Berrak Bora ; Borges, Guilherme ; Bornstein, Natan M ; Bose, Dipan ; Boufous, Soufiane ; Bourne, Rupert R ; Boyers, Lindsay N ; Brainin, Michael ; Brauer, Michael ; Brayne, Carol EG ; Brazinova, Alexandra ; Breitborde, Nicholas JK ; Brenner, Hermann ; Briggs, Adam DM ; Brooks, Peter M ; Brown, Jonathan ; Brugha, Traolach S ; Buchbinder, Rachelle ; Buckle, Geoffrey C ; Bukhman, Gene ; Bulloch, Andrew G ; Burch, Michael ; Burnett, Richard ; Cardenas, Rosario ; Cabral, Norberto L ; Nonato, Ismael R Campos ; Campuzano, Julio C ; Carapetis, Jonathan R ; Carpenter, David O ; Caso, Valeria ; Castaneda-Orjuela, Carlos A ; Catala-Lopez, Ferran ; Chadha, Vineet K ; Chang, Jung-Chen ; Chen, Honglei ; Chen, Wanqing ; Chiang, Peggy P ; Chimed-Ochir, Odgerel ; Chowdhury, Rajiv ; Christensen, Hanne ; Christophi, Costas A ; Chugh, Sumeet S ; Cirillo, Massimo ; Coggeshall, Megan ; Cohen, Aaron ; Colistro, Valentina ; Colquhoun, Samantha M ; Contreras, Alejandra G ; Cooper, Leslie T ; Cooper, Cyrus ; Cooperrider, Kimberly ; Coresh, Josef ; Cortinovis, Monica ; Criqui, Michael H ; Crump, John A ; Cuevas-Nasu, Lucia ; Dandona, Rakhi ; Dandona, Lalit ; Dansereau, Emily ; Dantes, Hector G ; Dargan, Paul I ; Davey, Gail ; Davitoiu, Dragos V ; Dayama, Anand ; De la Cruz-Gongora, Vanessa ; de la Vega, Shelley F ; De Leo, Diego ; del Pozo-Cruz, Borja ; Dellavalle, Robert P ; Deribe, Kebede ; Derrett, Sarah ; Des Jarlais, Don C ; Dessalegn, Muluken ; deVeber, Gabrielle A ; Dharmaratne, Samath D ; Diaz-Torne, Cesar ; Ding, Eric L ; Dokova, Klara ; Dorsey, E R ; Driscoll, Tim R ; Duber, Herbert ; Durrani, Adnan M ; Edmond, Karen M ; Ellenbogen, Richard G ; Endres, Matthias ; Ermakov, Sergey P ; Eshrati, Babak ; Esteghamati, Alireza ; Estep, Kara ; Fahimi, Saman ; Farzadfar, Farshad ; Fay, Derek FJ ; Felson, David T ; Fereshtehnejad, Seyed-Mohammad ; Fernandes, Jefferson G ; Ferri, Cluesa P ; Flaxman, Abraham ; Foigt, Nataliya ; Foreman, Kyle J ; Fowkes, F Gerry R ; Franklin, Richard C ; Furst, Thomas ; Futran, Neal D ; Gabbe, Belinda J ; Gankpe, Fortune G ; Garcia-Guerra, Francisco A ; Geleijnse, Johanna M ; Gessner, Bradford D ; Gibney, Katherine B ; Gillum, Richard F ; Ginawi, Ibrahim A ; Giroud, Maurice ; Giussani, Giorgia ; Goenka, Shifalika ; Goginashvili, Ketevan ; Gona, Philimon ; de Cosio, Teresita Gonzalez ; Gosselin, Richard A ; Gotay, Carolyn C ; Goto, Atsushi ; Gouda, Hebe N ; Guerrant, Richard l ; Gugnani, Harish C ; Gunnell, David ; Gupta, Rajeev ; Gupta, Rahul ; Gutierrez, Reyna A ; Hafezi-Nejad, Nima ; Hagan, Holly ; Halasa, Yara ; Hamadeh, Randah R ; Hamavid, Hannah ; Hammami, Mouhanad ; Hankey, Graeme J ; Hao, Yuantao ; Harb, Hilda L ; Haro, Josep Maria ; Havmoeller, Rasmus ; Hay, Roderick J ; Hay, Simon ; Hedayati, Mohammad T ; Pi, Ileana B Heredia ; Heydarpour, Pouria ; Hijar, Martha ; Hoek, Hans W ; Hoffman, Howard J ; Hornberger, John C ; Hosgood, H. Dean ; Hossain, Mazeda ; Hotez, Peter J ; Hoy, Damian G ; Hsairi, Mohamed ; Hu, Howard ; Hu, Guoqing ; Huang, John J ; Huang, Cheng ; Huiart, Laetitia ; Husseini, Abdullatif ; Iannarone, Marissa ; Iburg, Kim M ; Innos, Kaire ; Inoue, Manami ; Jacobsen, Kathryn H ; Jassal, Simerjot K ; Jeemon, Panniyammakal ; Jensen, Paul N ; Jha, Vivekanand ; Jiang, Guohong ; Jiang, Ying ; Jonas, Jost B ; Joseph, Jonathan ; Juel, Knud ; Kan, Haidong ; Karch, Andre ; Karimkhani, Chante ; Karthikeyan, Ganesan ; Katz, Ronit ; Kaul, Anil ; Kawakami, Norito ; Kazi, Dhruv S ; Kemp, Andrew H ; Kengne, Andre P ; Khader, Yousef S ; Khalifa, Shams Eldin AH ; Khan, Ejaz A ; Khan, Gulfaraz ; Khang, Young-Ho ; Khonelidze, Irma ; Kieling, Christian ; Kim, Daniel ; Kim, Sungroul ; Kimokoti, Ruth W ; Kinfu, Yohannes ; Kinge, Jonas M ; Kissela, Brett M ; Kivipelto, Miia ; Knibbs, Luke ; Knudsen, Ann Kristin ; Kokubo, Yoshihiro ; Kosen, Soewarta ; Kramer, Alexander ; Kravchenko, Michael ; Krishnamurthi, Rita V ; Krishnaswami, Sanjay ; Defo, Barthelemy Kuate ; Bicer, Burcu Kucuk ; Kuipers, Ernst J ; Kulkarni, Veena S ; Kumar, Kaushalendra ; Kumar, G Anil ; Kwan, Gene F ; Lai, Taavi ; Lalloo, Ratilal ; Lam, Hilton ; Lan, Qing ; Lansingh, Van C ; Larson, Heidi ; Larsson, Anders ; Lawrynowicz, Alicia EB ; Leasher, Janet L ; Lee, Jong-Tae ; Leigh, James ; Leung, Ricky ; Levi, Miriam ; Li, Bin ; Li, Yichong ; Li, Yongmei ; liang, Juan ; Lim, Stephen ; Lin, Hsien-Ho ; Lind, Margaret ; Lindsay, M Patrice ; Lipshultz, Steven E ; Liu, Shiwei ; Lloyd, Belinda K ; Ohno, Summer Lockett ; Logroscino, Giancarlo ; Looker, Katharine J ; Lopez, Alan D ; Lopez-Olmedo, Nancy ; Lortet-Tieulent, Joannie ; Lotufo, Paulo A ; Low, Nicola ; Lucas, Robyn M ; Lunevicius, Raimundas ; Lyons, Ronan A ; Ma, Jixiang ; Ma, Stefan ; Mackay, Mark T ; Majdan, Marek ; Malekzadeh, Reza ; Mapoma, Christopher C ; Marcenes, Wagner ; March, Lyn M ; Margono, Chris ; Marks, Guy B ; Marzan, Melvin B ; Masci, Joseph R ; Mason-Jones, Amanda J ; Matzopoulos, Richard G ; Mayosi, Bongani M ; Mazorodze, Tasara T ; McGill, Neil W ; McGrath, John J ; McKee, Martin ; McLain, Abby ; McMahon, Brian J ; Meaney, Peter A ; Mehndiratta, Man Mohan ; Mejia-Rodriguez, Fabiola ; Mekonnen, Wubegzier ; Melaku, Yohannes A ; Meltzer, Michele ; Memish, Ziad A ; Mensah, George ; Meretoja, Atte ; Mhimbira, Francis A ; Micha, Renata ; Miller, Ted R ; Mills, Edward J ; Mitchell, Philip B ; Mock, Charles N ; Moffitt, Terrie E ; Ibrahim, Norlinah Mohamed ; Mohammad, Karzan A ; Mokdad, Ali H ; Mola, Glen L ; Monasta, Lorenzo ; Montico, Marcella ; Montine, Thomas J ; Moore, Ami R ; Moran, Andrew E ; Morawska, Lidia ; Mori, Rintaro ; Moschandreas, Joanna ; Moturi, Wilkister N ; Moyer, Madeline ; Mozaffarian, Dariush ; Mueller, Ulrich O ; Mukaigawara, Mitsuru ; Murdoch, Michele E ; Murray, Joseph ; Murthy, Kinnari S ; Naghavi, Paria ; Nahas, Ziad ; Naheed, Aliya ; Naidoo, Kovin S ; Naldi, Luigi ; Nand, Devina ; Nangia, Vinay ; Narayan, K.M. Venkat ; Nash, Denis ; Nejjari, Chakib ; Neupane, Sudan P ; Newman, Lori M ; Newton, Charles R ; Ng, Marie ; Ngalesoni, Frida N ; Nhung, Nguyen T ; Nisar, Muhammad I ; Nolte, Sandra ; Norheim, Ole F ; Norman, Rosana E ; Norrving, Bo ; Nyakarahuka, Luke ; Oh, In Hwan ; Ohkubo, Takayoshi ; Omer, Saad B ; Opio, John Nelson ; Ortiz, Alberto ; Pandian, Jeyaraj D ; Panelo, Carlo Irwin A ; Papachristou, Christina ; Park, Eun-Kee ; Parry, Charles D ; Caicedo, Angel J Paternina ; Patten, Scott B ; Paul, Vinod K ; Pavlin, Boris I ; Pearce, Neil ; Pedraza, Lilia S ; Pellegrini, Carlos A ; Pereira, David M ; Perez-Ruiz, Fernando P ; Perico, Norberto ; Pervaiz, Aslam ; Pesudovs, Konrad ; Peterson, Carrie B ; Petzold, Max ; Phillips, Michael R ; Phillips, David ; Phillips, Bryan ; Piel, Frederic B ; Plass, Dietrich ; Poenaru, Dan ; Polanczyk, Guilherme V ; Polinder, Suzanne ; Pope, C A ; Popova, Svetlana ; Poulton, Richie G ; Pourmalek, Farshad ; Prabhakaran, Dorairaj ; Prasad, Noela M ; Qato, Dima ; Quistberg, D A ; Rafay, Anwar ; Rahimi, Kazem ; Rahimi-Movaghar, Vafa ; Rahman, Sajjad ur ; Raju, Murugesan ; Rakovac, Ivo ; Rana, Saleem M ; Razavi, Homie ; Refaat, Amany ; Rehm, Jurgen ; Remuzzi, Giuseppe ; Resnikoff, Serge ; Ribeiro, Antonio L ; Riccio, Patricia M ; Richardson, Lee ; Richardus, Jan Hendrik ; Riederer, Anne M ; Robinson, Margot ; Roca, Anna ; Rodriguez, Alina ; Rojas-Rueda, David ; Ronfani, Luca ; Rothenbacher, Dietrich ; Roy, Nobhojit ; Ruhago, George M ; Sabin, Nsanzimana ; Sacco, Ralph L ; Ksoreide, Kjetil ; Saha, Sukanta ; Sahathevan, Ramesh ; Sahraian, Mohammad Ali ; Sampson, Uchechukwu ; Sanabria, Juan R ; Sanchez-Riera, Lidia ; Santos, Itamar S ; Satpathy, Maheswar ; Saunders, James E ; Sawhney, Monika ; Saylan, Mete I ; Scarborough, Peter ; Schoettker, Ben ; Schneider, Ione JC ; Schwebel, David C ; Scott, James G ; Seedat, Soraya ; Sepanlou, Sadaf G ; Serdar, Berrin ; Servan-Mori, Edson E ; Shackelford, Katya ; Shaheen, Amira ; Shahraz, Saeid ; Levy, Teresa Shamah ; Shangguan, Siyi ; She, Jun ; Sheikhbahaei, Sara ; Shepard, Donald S ; Shi, Peilin ; Shibuya, Kenji ; Shinohara, Yukito ; Shiri, Rahman ; Shishani, Kawkab ; Shiue, Ivy ; Shrime, Mark G ; Sigfusdottir, Inga D ; Silberberg, Donald H ; Simard, Edgar P ; Sindi, Shireen ; Singh, Jasvinder A ; Singh, Lavanya ; Skirbekk, Vegard ; Sliwa, Karen ; Soljak, Michael ; Soneji, Samir ; Soshnikov, Sergey S ; Speyer, Peter ; Sposato, Luciano A ; Sreeramareddy, Chandrashekhar T ; Stoeckl, Heidi ; Stathopoulou, Vasiliki Kalliopi ; Steckling, Nadine ; Stein, Murray B ; Stein, Dan J ; Steiner, Timothy J ; Stewart, Andrea ; Stork, Eden ; Stovner, Lars J ; Stroumpoulis, Konstantinos ; Sturua, Lela ; Sunguya, Bruno F ; Swaroop, Mamta ; Sykes, Bryan L ; Tabb, Karen M ; Takahashi, Ken ; Tan, Feng ; Tandon, Nikhil ; Tanne, David ; Tanner, Marcel ; Tavakkoli, Mohammad ; Taylor, Hugh R ; Te Ao, Braden J ; Temesgen, Awoke Misganaw ; Have, Margreet Ten ; Tenkorang, Eric Yeboah ; Terkawi, Abdullah Sulieman ; Theadom, Alice M ; Thomas, Elissa ; Thorne-Lyman, Andrew L ; Thrift, Amanda G ; Tleyjeh, Imad M ; Tonelli, Marcello ; Topouzis, Fotis ; Towbin, Jeffrey A ; Toyoshima, Hideaki ; Traebert, Jefferson ; Tran, Bach X ; Trasande, Leonardo ; Trillini, Matias ; Truelsen, Thomas ; Trujillo, Ulises ; Tsilimbaris, Miltiadis ; Tuzcu, Emin M ; Ukwaja, Kingsley N ; Undurraga, Eduardo A ; Uzun, Selen B ; van Brakel, Wim H ; van de Vijver, Steven ; Dingenen, Rita Van ; van Gool, Coen H ; Varakin, Yuri Y ; Vasankari, Tommi J ; Vavilala, Monica S ; Veerman, Lennert J ; Velasquez-Melendez, Gustavo ; Venketasubramanian, Narayanaswamy ; Vijayakumar, Lakshmi ; Villalpando, Salvador ; Violante, Francesco S ; Vlassov, Vasiliy V ; Waller, Stephen ; Wallin, Mitchell T ; Wan, Xia ; Wang, Linhong ; Wang, JianLi ; Wang, Yanping ; Warouw, Tati S ; Weichenthal, Scott ; Weiderpass, Elisabete ; Weintraub, Robert G ; Werdecker, Andrea ; Wessells, K. Ryan R ; Westerman, Ronny ; Wilkinson, James D ; Williams, Hywel C ; Williams, Thomas N ; Woldeyohannes, Solomon M ; Wolfe, Charles DA ; Wong, John Q ; Wong, Haidong ; Woolf, Anthony D ; Wright, Jonathan L ; Wurtz, Brittany ; Xu, Gelin ; Yang, Gonghuan ; Yano, Yuichiro ; Yenesew, Muluken A ; Yentur, Gokalp K ; Yip, Paul ; Yonemoto, Naohiro ; Yoon, Seok-Jun ; Younis, Mustafa ; Yu, Chuanhua ; Kim, Kim Yun ; Zaki, Maysaa El Sayed ; Zhang, Yong ; Zhao, Zheng ; Zhao, Yong ; Zhu, Jun ; Zonies, David ; Zunt, Joseph R ; Salomon, Joshua A ; Murray, Christopher JL

In The Lancet 22-28 August 2015 386(9995):743-800

Vos, Theo ; Flaxman, Abraham D ; Naghavi, Mohsen ; Lozano, Rafael ; Michaud, Catherine ; Ezzati, Majid ; Shibuya, Kenji ; Salomon, Joshua A ; Abdalla, Safa ; Aboyans, Victor ; Abraham, Jerry ; Ackerman, Ilana ; Aggarwal, Rakesh ; Ahn, Stephanie Y ; Ali, Mohammed K ; AlMazroa, Mohammad A ; Alvarado, Miriam ; Anderson, H Ross ; Anderson, Laurie M ; Andrews, Kathryn G ; Atkinson, Charles ; Baddour, Larry M ; Bahalim, Adil N ; Barker-Collo, Suzanne ; Barrero, Lope H ; Bartels, David H ; Basáñez, Maria-Gloria ; Baxter, Amanda ; Bell, Michelle L ; Benjamin, Emelia J ; Bennett, Derrick ; Bernabé, Eduardo ; Bhalla, Kavi ; Bhandari, Bishal ; Bikbov, Boris ; Abdulhak, Aref Bin ; Birbeck, Gretchen ; Black, James A ; Blencowe, Hannah ; Blore, Jed D ; Blyth, Fiona ; Bolliger, Ian ; Bonaventure, Audrey ; Boufous, Soufiane ; Bourne, Rupert ; Boussinesq, Michel ; Braithwaite, Tasanee ; Brayne, Carol ; Bridgett, Lisa ; Brooker, Simon ; Brooks, Peter ; Brugha, Traolach S ; Bryan-Hancock, Claire ; Bucello, Chiara ; Buchbinder, Rachelle ; Buckle, Geoffrey ; Budke, Christine M ; Burch, Michael ; Burney, Peter ; Burstein, Roy ; Calabria, Bianca ; Campbell, Benjamin ; Canter, Charles E ; Carabin, Hélène ; Carapetis, Jonathan ; Carmona, Loreto ; Cella, Claudia ; Charlson, Fiona ; Chen, Honglei ; Cheng, Andrew Tai-Ann ; Chou, David ; Chugh, Sumeet S ; Coffeng, Luc E ; Colan, Steven D ; Colquhoun, Samantha ; Colson, K Ellicott ; Condon, John ; Connor, Myles D ; Cooper, Leslie T ; Corriere, Matthew ; Cortinovis, Monica ; de Vaccaro, Karen Courville ; Couser, William ; Cowie, Benjamin C ; Criqui, Michael H ; Cross, Marita ; Dabhadkar, Kaustubh C ; Dahiya, Manu ; Dahodwala, Nabila ; Damsere-Derry, James ; Danaei, Goodarz ; Davis, Adrian ; De Leo, Diego ; Degenhardt, Louisa ; Dellavalle, Robert ; Delossantos, Allyne ; Denenberg, Julie ; Derrett, Sarah ; Des Jarlais, Don C ; Dharmaratne, Samath D ; Dherani, Mukesh ; Diaz-Torne, Cesar ; Dolk, Helen ; Dorsey, E Ray ; Driscoll, Tim ; Duber, Herbert ; Ebel, Beth ; Edmond, Karen ; Elbaz, Alexis ; Ali, Suad Eltahir ; Erskine, Holly ; Erwin, Patricia J ; Espindola, Patricia ; Ewoigbokhan, Stalin E ; Farzadfar, Farshad ; Feigin, Valery ; Felson, David T ; Ferrari, Alize ; Ferri, Cleusa P ; Fèvre, Eric M ; Finucane, Mariel M ; Flaxman, Seth ; Flood, Louise ; Foreman, Kyle ; Forouzanfar, Mohammad H ; Fowkes, Francis Gerry R ; Franklin, Richard ; Fransen, Marlene ; Freeman, Michael K ; Gabbe, Belinda J ; Gabriel, Sherine E ; Gakidou, Emmanuela ; Ganatra, Hammad A ; Garcia, Bianca ; Gaspari, Flavio ; Gillum, Richard F ; Gmel, Gerhard ; Gosselin, Richard ; Grainger, Rebecca ; Groeger, Justina ; Guillemin, Francis ; Gunnell, David ; Gupta, Ramyani ; Haagsma, Juanita ; Hagan, Holly ; Halasa, Yara A ; Hall, Wayne ; Haring, Diana ; Haro, Josep Maria ; Harrison, James E ; Havmoeller, Rasmus ; Hay, Roderick J ; Higashi, Hideki ; Hill, Catherine ; Hoen, Bruno ; Hoffman, Howard ; Hotez, Peter J ; Hoy, Damian ; Huang, John J ; Ibeanusi, Sydney E ; Jacobsen, Kathryn H ; James, Spencer L ; Jarvis, Deborah ; Jasrasaria, Rashmi ; Jayaraman, Sudha ; Johns, Nicole ; Jonas, Jost B ; Karthikeyan, Ganesan ; Kassebaum, Nicholas ; Kawakami, Norito ; Keren, Andre ; Khoo, Jon-Paul ; King, Charles H ; Knowlton, Lisa Marie ; Kobusingye, Olive ; Koranteng, Adofo ; Krishnamurthi, Rita ; Lalloo, Ratilal ; Laslett, Laura L ; Lathlean, Tim ; Leasher, Janet L ; Lee, Yong Yi ; Leigh, James ; Lim, Stephen S ; Limb, Elizabeth ; Lin, John Kent ; Lipnick, Michael ; Lipshultz, Steven E ; Liu, Wei ; Loane, Maria ; Ohno, Summer Lockett ; Lyons, Ronan ; Ma, Jixiang ; Mabweijano, Jacqueline ; MacIntyre, Michael F ; Malekzadeh, Reza ; Mallinger, Leslie ; Manivannan, Sivabalan ; Marcenes, Wagner ; March, Lyn ; Margolis, David J ; Marks, Guy B ; Marks, Robin ; Matsumori, Akira ; Matzopoulos, Richard ; Mayosi, Bongani M ; McAnulty, John H ; McDermott, Mary M ; McGill, Neil ; McGrath, John ; Medina-Mora, Maria Elena ; Meltzer, Michele ; Memish, Ziad A ; Mensah, George A ; Merriman, Tony R ; Meyer, Ana-Claire ; Miglioli, Valeria ; Miller, Matthew ; Miller, Ted R ; Mitchell, Philip B ; Mocumbi, Ana Olga ; Moffitt, Terrie E ; Mokdad, Ali A ; Monasta, Lorenzo ; Montico, Marcella ; Moradi-Lakeh, Maziar ; Moran, Andrew ; Morawska, Lidia ; Mori, Rintaro ; Murdoch, Michele E ; Mwaniki, Michael K ; Naidoo, Kovin ; Nair, M Nathan ; Naldi, Luigi ; Narayan, KM Venkat ; Nelson, Paul K ; Nelson, Robert G ; Nevitt, Michael C ; Newton, Charles R ; Nolte, Sandra ; Norman, Paul ; Norman, Rosana ; O'Donnell, Martin ; O'Hanlon, Simon ; Olives, Casey ; Omer, Saad B ; Ortblad, Katrina ; Osborne, Richard ; Ozgediz, Doruk ; Page, Andrew ; Pahari, Bishnu ; Pandian, Jeyaraj Durai ; Rivero, Andrea Panozo ; Patten, Scott B ; Pearce, Neil ; Padilla, Rogelio Perez ; Perez-Ruiz, Fernando ; Perico, Norberto ; Pesudovs, Konrad ; Phillips, David ; Phillips, Michael R ; Pierce, Kelsey ; Pion, Sébastien ; Polanczyk, Guilherme V ; Polinder, Suzanne ; Pope, C Arden, III ; Popova, Svetlana ; Porrini, Esteban ; Pourmalek, Farshad ; Prince, Martin ; Pullan, Rachel L ; Ramaiah, Kapa D ; Ranganathan, Dharani ; Razavi, Homie ; Regan, Mathilda ; Rehm, Jürgen T ; Rein, David B ; Remuzzi, Guiseppe ; Richardson, Kathryn ; Rivara, Frederick P ; Roberts, Thomas ; Robinson, Carolyn ; De Leòn, Felipe Rodriguez ; Ronfani, Luca ; Room, Robin ; Rosenfeld, Lisa C ; Rushton, Lesley ; Sacco, Ralph L ; Saha, Sukanta ; Sampson, Uchechukwu ; Sanchez-Riera, Lidia ; Sanman, Ella ; Schwebel, David C ; Scott, James Graham ; Segui-Gomez, Maria ; Shahraz, Saeid ; Shepard, Donald S ; Shin, Hwashin ; Shivakoti, Rupak ; Silberberg, Donald ; Singh, David ; Singh, Gitanjali M ; Singh, Jasvinder A ; Singleton, Jessica ; Sleet, David A ; Sliwa, Karen ; Smith, Emma ; Smith, Jennifer L ; Stapelberg, Nicolas JC ; Steer, Andrew ; Steiner, Timothy ; Stolk, Wilma A ; Stovner, Lars Jacob ; Sudfeld, Christopher ; Syed, Sana ; Tamburlini, Giorgio ; Tavakkoli, Mohammad ; Taylor, Hugh R ; Taylor, Jennifer A ; Taylor, William J ; Thomas, Bernadette ; Thomson, W Murray ; Thurston, George D ; Tleyjeh, Imad M ; Tonelli, Marcello ; Towbin, Jeffrey A ; Truelsen, Thomas ; Tsilimbaris, Miltiadis K ; Ubeda, Clotilde ; Undurraga, Eduardo A ; van der Werf, Marieke J ; van Os, Jim ; Vavilala, Monica S ; Venketasubramanian, N ; Wang, Mengru ; Wang, Wenzhi ; Watt, Kerrianne ; Weatherall, David J ; Weinstock, Martin A ; Weintraub, Robert ; Weisskopf, Marc G ; Weissman, Myrna M ; White, Richard A ; Whiteford, Harvey ; Wiersma, Steven T ; Wilkinson, James D ; Williams, Hywel C ; Williams, Sean RM ; Witt, Emma ; Wolfe, Frederick ; Woolf, Anthony D ; Wulf, Sarah ; Yeh, Pon-Hsiu ; Zaidi, Anita KM ; Zheng, Zhi-Jie ; Zonies, David ; Lopez, Alan D ; Murray, Christopher JL

In The Lancet 15 December 2012-4 January 2013 380(9859):2163-2196

Murray, Christopher J L ; Vos, Theo ; Lozano, Rafael ; Naghavi, Mohsen ; Flaxman, Abraham D ; Michaud, Catherine ; Ezzati, Majid ; Shibuya, Kenji ; Salomon, Joshua A ; Abdalla, Safa ; Aboyans, Victor ; Abraham, Jerry ; Ackerman, Ilana ; Aggarwal, Rakesh ; Ahn, Stephanie Y ; Ali, Mohammed K ; AlMazroa, Mohammad A ; Alvarado, Miriam ; Anderson, H Ross ; Anderson, Laurie M ; Andrews, Kathryn G ; Atkinson, Charles ; Baddour, Larry M ; Bahalim, Adil N ; Barker-Collo, Suzanne ; Barrero, Lope H ; Bartels, David H ; Basáñez, Maria-Gloria ; Baxter, Amanda ; Bell, Michelle L ; Benjamin, Emelia J ; Bennett, Derrick ; Bernabé, Eduardo ; Bhalla, Kavi ; Bhandari, Bishal ; Bikbov, Boris ; Abdulhak, Aref Bin ; Birbeck, Gretchen ; Black, James A ; Blencowe, Hannah ; Blore, Jed D ; Blyth, Fiona ; Bolliger, Ian ; Bonaventure, Audrey ; Boufous, Soufiane ; Bourne, Rupert ; Boussinesq, Michel ; Braithwaite, Tasanee ; Brayne, Carol ; Bridgett, Lisa ; Brooker, Simon ; Brooks, Peter ; Brugha, Traolach S ; Bryan-Hancock, Claire ; Bucello, Chiara ; Buchbinder, Rachelle ; Buckle, Geoffrey ; Budke, Christine M ; Burch, Michael ; Burney, Peter ; Burstein, Roy ; Calabria, Bianca ; Campbell, Benjamin ; Canter, Charles E ; Carabin, Hélène ; Carapetis, Jonathan ; Carmona, Loreto ; Cella, Claudia ; Charlson, Fiona ; Chen, Honglei ; Cheng, Andrew Tai-Ann ; Chou, David ; Chugh, Sumeet S ; Coffeng, Luc E ; Colan, Steven D ; Colquhoun, Samantha ; Colson, K Ellicott ; Condon, John ; Connor, Myles D ; Cooper, Leslie T ; Corriere, Matthew ; Cortinovis, Monica ; de Vaccaro, Karen Courville ; Couser, William ; Cowie, Benjamin C ; Criqui, Michael H ; Cross, Marita ; Dabhadkar, Kaustubh C ; Dahiya, Manu ; Dahodwala, Nabila ; Damsere-Derry, James ; Danaei, Goodarz ; Davis, Adrian ; Leo, Diego De ; Degenhardt, Louisa ; Dellavalle, Robert ; Delossantos, Allyne ; Denenberg, Julie ; Derrett, Sarah ; Des Jarlais, Don C ; Dharmaratne, Samath D ; Dherani, Mukesh ; Diaz-Torne, Cesar ; Dolk, Helen ; Dorsey, E Ray ; Driscoll, Tim ; Duber, Herbert ; Ebel, Beth ; Edmond, Karen ; Elbaz, Alexis ; Ali, Suad Eltahir ; Erskine, Holly ; Erwin, Patricia J ; Espindola, Patricia ; Ewoigbokhan, Stalin E ; Farzadfar, Farshad ; Feigin, Valery ; Felson, David T ; Ferrari, Alize ; Ferri, Cleusa P ; Fèvre, Eric M ; Finucane, Mariel M ; Flaxman, Seth ; Flood, Louise ; Foreman, Kyle ; Forouzanfar, Mohammad H ; Fowkes, Francis Gerry R ; Fransen, Marlene ; Freeman, Michael K ; Gabbe, Belinda J ; Gabriel, Sherine E ; Gakidou, Emmanuela ; Ganatra, Hammad A ; Garcia, Bianca ; Gaspari, Flavio ; Gillum, Richard F ; Gmel, Gerhard ; Gonzalez-Medina, Diego ; Gosselin, Richard ; Grainger, Rebecca ; Grant, Bridget ; Groeger, Justina ; Guillemin, Francis ; Gunnell, David ; Gupta, Ramyani ; Haagsma, Juanita ; Hagan, Holly ; Halasa, Yara A ; Hall, Wayne ; Haring, Diana ; Haro, Josep Maria ; Harrison, James E ; Havmoeller, Rasmus ; Hay, Roderick J ; Higashi, Hideki ; Hill, Catherine ; Hoen, Bruno ; Hoffman, Howard ; Hotez, Peter J ; Hoy, Damian ; Huang, John J ; Ibeanusi, Sydney E ; Jacobsen, Kathryn H ; James, Spencer L ; Jarvis, Deborah ; Jasrasaria, Rashmi ; Jayaraman, Sudha ; Johns, Nicole ; Jonas, Jost B ; Karthikeyan, Ganesan ; Kassebaum, Nicholas ; Kawakami, Norito ; Keren, Andre ; Khoo, Jon-Paul ; King, Charles H ; Knowlton, Lisa Marie ; Kobusingye, Olive ; Koranteng, Adofo ; Krishnamurthi, Rita ; Laden, Francine ; Lalloo, Ratilal ; Laslett, Laura L ; Lathlean, Tim ; Leasher, Janet L ; Lee, Yong Yi ; Leigh, James ; Levinson, Daphna ; Lim, Stephen S ; Limb, Elizabeth ; Lin, John Kent ; Lipnick, Michael ; Lipshultz, Steven E ; Liu, Wei ; Loane, Maria ; Ohno, Summer Lockett ; Lyons, Ronan ; Mabweijano, Jacqueline ; MacIntyre, Michael F ; Malekzadeh, Reza ; Mallinger, Leslie ; Manivannan, Sivabalan ; Marcenes, Wagner ; March, Lyn ; Margolis, David J ; Marks, Guy B ; Marks, Robin ; Matsumori, Akira ; Matzopoulos, Richard ; Mayosi, Bongani M ; McAnulty, John H ; McDermott, Mary M ; McGill, Neil ; McGrath, John ; Medina-Mora, Maria Elena ; Meltzer, Michele ; Memish, Ziad A ; Mensah, George A ; Merriman, Tony R ; Meyer, Ana-Claire ; Miglioli, Valeria ; Miller, Matthew ; Miller, Ted R ; Mitchell, Philip B ; Mock, Charles ; Mocumbi, Ana Olga ; Moffitt, Terrie E ; Mokdad, Ali A ; Monasta, Lorenzo ; Montico, Marcella ; Moradi-Lakeh, Maziar ; Moran, Andrew ; Morawska, Lidia ; Mori, Rintaro ; Murdoch, Michele E ; Mwaniki, Michael K ; Naidoo, Kovin ; Nair, M Nathan ; Naldi, Luigi ; Narayan, K M Venkat ; Nelson, Paul K ; Nelson, Robert G ; Nevitt, Michael C ; Newton, Charles R ; Nolte, Sandra ; Norman, Paul ; Norman, Rosana ; O'Donnell, Martin ; O'Hanlon, Simon ; Olives, Casey ; Omer, Saad B ; Ortblad, Katrina ; Osborne, Richard ; Ozgediz, Doruk ; Page, Andrew ; Pahari, Bishnu ; Pandian, Jeyaraj Durai ; Rivero, Andrea Panozo ; Patten, Scott B ; Pearce, Neil ; Padilla, Rogelio Perez ; Perez-Ruiz, Fernando ; Perico, Norberto ; Pesudovs, Konrad ; Phillips, David ; Phillips, Michael R ; Pierce, Kelsey ; Pion, Sébastien ; Polanczyk, Guilherme V ; Polinder, Suzanne ; Pope, C Arden, III ; Popova, Svetlana ; Porrini, Esteban ; Pourmalek, Farshad ; Prince, Martin ; Pullan, Rachel L ; Ramaiah, Kapa D ; Ranganathan, Dharani ; Razavi, Homie ; Regan, Mathilda ; Rehm, Jürgen T ; Rein, David B ; Remuzzi, Guiseppe ; Richardson, Kathryn ; Rivara, Frederick P ; Roberts, Thomas ; Robinson, Carolyn ; De Leòn, Felipe Rodriguez ; Ronfani, Luca ; Room, Robin ; Rosenfeld, Lisa C ; Rushton, Lesley ; Sacco, Ralph L ; Saha, Sukanta ; Sampson, Uchechukwu ; Sanchez-Riera, Lidia ; Sanman, Ella ; Schwebel, David C ; Scott, James Graham ; Segui-Gomez, Maria ; Shahraz, Saeid ; Shepard, Donald S ; Shin, Hwashin ; Shivakoti, Rupak ; Silberberg, Donald ; Singh, David ; Singh, Gitanjali M ; Singh, Jasvinder A ; Singleton, Jessica ; Sleet, David A ; Sliwa, Karen ; Smith, Emma ; Smith, Jennifer L ; Stapelberg, Nicolas JC ; Steer, Andrew ; Steiner, Timothy ; Stolk, Wilma A ; Stovner, Lars Jacob ; Sudfeld, Christopher ; Syed, Sana ; Tamburlini, Giorgio ; Tavakkoli, Mohammad ; Taylor, Hugh R ; Taylor, Jennifer A ; Taylor, William J ; Thomas, Bernadette ; Thomson, W Murray ; Thurston, George D ; Tleyjeh, Imad M ; Tonelli, Marcello ; Towbin, Jeffrey A ; Truelsen, Thomas ; Tsilimbaris, Miltiadis K ; Ubeda, Clotilde ; Undurraga, Eduardo A ; van der Werf, Marieke J ; van Os, Jim ; Vavilala, Monica S ; Venketasubramanian, N ; Wang, Mengru ; Wang, Wenzhi ; Watt, Kerrianne ; Weatherall, David J ; Weinstock, Martin A ; Weintraub, Robert ; Weisskopf, Marc G ; Weissman, Myrna M ; White, Richard A ; Whiteford, Harvey ; Wiebe, Natasha ; Wiersma, Steven T ; Wilkinson, James D ; Williams, Hywel C ; Williams, Sean RM ; Witt, Emma ; Wolfe, Frederick ; Woolf, Anthony D ; Wulf, Sarah ; Yeh, Pon-Hsiu ; Zaidi, Anita KM ; Zheng, Zhi-Jie ; Zonies, David ; Lopez, Alan D

In The Lancet 15 December 2012-4 January 2013 380(9859):2197-2223

Lim, Stephen S ; Vos, Theo ; Flaxman, Abraham D ; Danaei, Goodarz ; Shibuya, Kenji ; Adair-Rohani, Heather ; AlMazroa, Mohammad A ; Amann, Markus ; Anderson, H Ross ; Andrews, Kathryn G ; Aryee, Martin ; Atkinson, Charles ; Bacchus, Loraine J ; Bahalim, Adil N ; Balakrishnan, Kalpana ; Balmes, John ; Barker-Collo, Suzanne ; Baxter, Amanda ; Bell, Michelle L ; Blore, Jed D ; Blyth, Fiona ; Bonner, Carissa ; Borges, Guilherme ; Bourne, Rupert ; Boussinesq, Michel ; Brauer, Michael ; Brooks, Peter ; Bruce, Nigel G ; Brunekreef, Bert ; Bryan-Hancock, Claire ; Bucello, Chiara ; Buchbinder, Rachelle ; Bull, Fiona ; Burnett, Richard T ; Byers, Tim E ; Calabria, Bianca ; Carapetis, Jonathan ; Carnahan, Emily ; Chafe, Zoe ; Charlson, Fiona ; Chen, Honglei ; Chen, Jian Shen ; Cheng, Andrew Tai-Ann ; Child, Jennifer Christine ; Cohen, Aaron ; Colson, K Ellicott ; Cowie, Benjamin C ; Darby, Sarah ; Darling, Susan ; Davis, Adrian ; Degenhardt, Louisa ; Dentener, Frank ; Des Jarlais, Don C ; Devries, Karen ; Dherani, Mukesh ; Ding, Eric L ; Dorsey, E Ray ; Driscoll, Tim ; Edmond, Karen ; Ali, Suad Eltahir ; Engell, Rebecca E ; Erwin, Patricia J ; Fahimi, Saman ; Falder, Gail ; Farzadfar, Farshad ; Ferrari, Alize ; Finucane, Mariel M ; Flaxman, Seth ; Fowkes, Francis Gerry R ; Freedman, Greg ; Freeman, Michael K ; Gakidou, Emmanuela ; Ghosh, Santu ; Giovannucci, Edward ; Gmel, Gerhard ; Graham, Kathryn ; Grainger, Rebecca ; Grant, Bridget ; Gunnell, David ; Gutierrez, Hialy R ; Hall, Wayne ; Hoek, Hans W ; Hogan, Anthony ; Hosgood, H Dean, III ; Hoy, Damian ; Hu, Howard ; Hubbell, Bryan J ; Hutchings, Sally J ; Ibeanusi, Sydney E ; Jacklyn, Gemma L ; Jasrasaria, Rashmi ; Jonas, Jost B ; Kan, Haidong ; Kanis, John A ; Kassebaum, Nicholas ; Kawakami, Norito ; Khang, Young-Ho ; Khatibzadeh, Shahab ; Khoo, Jon-Paul ; Kok, Cindy ; Laden, Francine ; Lalloo, Ratilal ; Lan, Qing ; Lathlean, Tim ; Leasher, Janet L ; Leigh, James ; Li, Yang ; Lin, John Kent ; Lipshultz, Steven E ; London, Stephanie ; Lozano, Rafael ; Lu, Yuan ; Mak, Joelle ; Malekzadeh, Reza ; Mallinger, Leslie ; Marcenes, Wagner ; March, Lyn ; Marks, Robin ; Martin, Randall ; McGale, Paul ; McGrath, John ; Mehta, Sumi ; Memish, Ziad A ; Mensah, George A ; Merriman, Tony R ; Micha, Renata ; Michaud, Catherine ; Mishra, Vinod ; Hanafiah, Khayriyyah Mohd ; Mokdad, Ali A ; Morawska, Lidia ; Mozaffarian, Dariush ; Murphy, Tasha ; Naghavi, Mohsen ; Neal, Bruce ; Nelson, Paul K ; Nolla, Joan Miquel ; Norman, Rosana ; Olives, Casey ; Omer, Saad B ; Orchard, Jessica ; Osborne, Richard ; Ostro, Bart ; Page, Andrew ; Pandey, Kiran D ; Parry, Charles DH ; Passmore, Erin ; Patra, Jayadeep ; Pearce, Neil ; Pelizzari, Pamela M ; Petzold, Max ; Phillips, Michael R ; Pope, Dan ; Pope, C Arden, III ; Powles, John ; Rao, Mayuree ; Razavi, Homie ; Rehfuess, Eva A ; Rehm, Jürgen T ; Ritz, Beate ; Rivara, Frederick P ; Roberts, Thomas ; Robinson, Carolyn ; Rodriguez-Portales, Jose A ; Romieu, Isabelle ; Room, Robin ; Rosenfeld, Lisa C ; Roy, Ananya ; Rushton, Lesley ; Salomon, Joshua A ; Sampson, Uchechukwu ; Sanchez-Riera, Lidia ; Sanman, Ella ; Sapkota, Amir ; Seedat, Soraya ; Shi, Peilin ; Shield, Kevin ; Shivakoti, Rupak ; Singh, Gitanjali M ; Sleet, David A ; Smith, Emma ; Smith, Kirk R ; Stapelberg, Nicolas JC ; Steenland, Kyle ; Stöckl, Heidi ; Stovner, Lars Jacob ; Straif, Kurt ; Straney, Lahn ; Thurston, George D ; Tran, Jimmy H ; Van Dingenen, Rita ; van Donkelaar, Aaron ; Veerman, J Lennert ; Vijayakumar, Lakshmi ; Weintraub, Robert ; Weissman, Myrna M ; White, Richard A ; Whiteford, Harvey ; Wiersma, Steven T ; Wilkinson, James D ; Williams, Hywel C ; Williams, Warwick ; Wilson, Nicholas ; Woolf, Anthony D ; Yip, Paul ; Zielinski, Jan M ; Lopez, Alan D ; Murray, Christopher JL ; Ezzati, Majid

In The Lancet 15 December 2012-4 January 2013 380(9859):2224-2260

McRae, JF; Clayton, S; Fitzgerald, TW; Kaplanis, J; Prigmore, E; Rajan, D; Sifrim, A; Aitken, S; Akawi, N; Alvi, M; Ambridge, K; Barrett, DM; Bayzetinova, T; Jones, P; Jones, WD; King, D; Krishnappa, N; Mason, LE; Singh, T; Tivey, AR; Ahmed, M; Anjum, U; Archer, H; Armstrong, R; Awada, J; Balasubramanian, M; Banka, S; Baralle, D; Barnicoat, A; Batstone, P; Baty, D; Bennett, C; Berg, J; Bernhard, B; Bevan, AP; Bitner-Glindzicz, M; Blair, E; Blyth, M; Bohanna, D; Bourdon, L; Bourn, D; Bradley, L; Brady, A; Brent, S; Brewer, C; Brunstrom, K; Bunyan, DJ; Burn, J; Canham, N; Castle, B; Chandler, K; Chatzimichali, E; Cilliers, D; Clarke, A; Clasper, S; Clayton-Smith, J; Clowes, V; Coates, A; Cole, T; Colgiu, I; Collins, A; Collinson, MN; Connell, F; Cooper, N; Cox, H; Cresswell, L; Cross, G; Crow, Y; D'Alessandro, M; Dabir, T; Davidson, R; Davies, S; de Vries, D; Dean, J; Deshpande, C; Devlin, G; Dixit, A; Dobbie, A; Donaldson, A; Donnai, D; Donnelly, D; Donnelly, C; Douglas, A; Douzgou, S; Duncan, A; Eason, J; Ellard, S; Ellis, I; Elmslie, F; Evans, K; Everest, S; Fendick, T; Fisher, R; Flinter, F; Foulds, N; Fry, A; Fryer, A; Gardiner, C; Gaunt, L; Ghali, N; Gibbons, R; Gill, H; Goodship, J; Goudie, D; Gray, E; Green, A; Greene, P; Greenhalgh, L; Gribble, S; Harrison, L; Harrison, V; Hawkins, R; He, L; Hellens, S; Henderson, A; Hewitt, S; Hildyard, L; Hobson, E; Holden, S; Holder, M; Holder, S; Hollingsworth, G; Homfray, T; Humphreys, M; Hurst, J; Hutton, B; Ingram, S; Irving, M; Islam, L; Jackson, A; Jarvis, J; Jenkins, L; Johnson, D; Jones, E; Josifova, D; Joss, S; Kaemba, B; Kazembe, S; Kelsell, R; Kerr, B; Kingston, H; Kini, U; Kinning, E; Kirby, G; Kirk, C; Kivuva, E; Kraus, A; Kumar, D; Kumar, VKA; Lachlan, K; Lam, W; Lampe, A; Langman, C; Lees, M; Lim, D; Longman, C; Lowther, G; Lynch, SA; Magee, A; Maher, E; Male, A; Mansour, S; Marks, K; Martin, K; Maye, U; McCann, E; McConnell, V; McEntagart, M; McGowan, R; McKay, K; McKee, S; McMullan, DJ; McNerlan, S; McWilliam, C; Mehta, S; Metcalfe, K; Middleton, A; Miedzybrodzka, Z; Miles, E; Mohammed, S; Montgomery, T; Moore, D; Morgan, S; Morton, J; Mugalaasi, H; Murday, V; Murphy, H; Naik, S; Nemeth, A; Nevitt, L; Newbury-Ecob, R; Norman, A; O'Shea, R; Ogilvie, C; Ong, K-R; Park, S-M; Parker, MJ; Patel, C; Paterson, J; Payne, S; Perrett, D; Phipps, J; Pilz, DT; Pollard, M; Pottinger, C; Poulton, J; Pratt, N; Prescott, K; Price, S; Pridham, A; Procter, A; Purnell, H; Quarrell, O; Ragge, N; Rahbari, R; Randall, J; Rankin, J; Raymond, L; Rice, D; Robert, L; Roberts, E; Roberts, J; Roberts, P; Roberts, G; Ross, A; Rosser, E; Saggar, A; Samant, S; Sampson, J; Sandford, R; Sarkar, A; Schweiger, S; Scott, R; Scurr, I; Selby, A; Seller, A; Sequeira, C; Shannon, N; Sharif, S; Shaw-Smith, C; Shearing, E; Shears, D; Sheridan, E; Simonic, I; Singzon, R; Skitt, Z; Smith, A; Smith, K; Smithson, S; Sneddon, L; Splitt, M; Squires, M; Stewart, F; Stewart, H; Straub, V; Suri, M; Sutton, V; Swaminathan, GJ; Sweeney, E; Tatton-Brown, K; Taylor, C; Taylor, R; Tein, M; Temple, IK; Thomson, J; Tischkowitz, M; Tomkins, S; Torokwa, A; Treacy, B; Turner, C; Turnpenny, P; Tysoe, C; Vandersteen, A; Varghese, V; Vasudevan, P; Vijayarangakannan, P; Vogt, J; Wakeling, E; Wallwark, S; Waters, J; Weber, A; Wellesley, D; Whiteford, M; Widaa, S; Wilcox, S; Wilkinson, E; Williams, D; Williams, N; Wilson, L; Woods, G; Wragg, C; Wright, M; Yates, L; Yau, M; Nellaker, C; Firth, HV; Wright, CF; FitzPatrick, DR; Barrett, JC; Hurles, ME

bioRxiv
McRae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T & Tayl, C 2016, ' Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study ', bioRxiv . https://doi.org/10.1101/049056

Jeffries L; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT.; Mis EK; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT.; McWalter K; GeneDx, Gaithersburg, MD.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Brodsky NN; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT; Yale University School of Medicine, Department of Immunobiology, New Haven, CT.; Carpier JM; Yale University School of Medicine, Department of Immunobiology, New Haven, CT.; Ji W; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT.; Ionita C; Yale University School of Medicine, Department of Pediatrics, New Haven, CT.; Roy B; Yale University School of Medicine, Department of Neurology, New Haven, CT.; Morrow JS; Yale University School of Medicine, Department of Pathology, New Haven, CT.; Darbinyan A; Yale University School of Medicine, Department of Pathology, New Haven, CT.; Iyer K; Yale University School of Medicine, Department of Pathology, New Haven, CT.; Aul RB; Hospital for Sick Children, Division of Clinical and Metabolic Genetics, Toronto, Ontario, Canada.; Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Chao KR; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA.; Cobbold L; South West Thames Regional Genetics Service, St George's, University of London, London, United Kingdom.; Cohen S; Children's Hospital of Philadelphia, Division of Neurology, Philadelphia, PA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA; University of Pennsylvania Perelman School of Medicine, Department of Neurology, Philadelphia, PA.; Custodio HM; Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom; Chalfont Centre for Epilepsy, Buckinghamshire, United Kingdom.; Drummond-Borg M; Cook Children's Medical Center, Division of Genetics, Fort Worth, TX.; Elmslie F; South West Thames Regional Genetics Service, St George's, University of London, London, United Kingdom.; Finanger E; Oregon Health & Science University, Portland, OR.; Hainline BE; Indiana University School of Medicine, Indiana University Health Physicians, Indianapolis, IN.; Helbig I; Children's Hospital of Philadelphia, Division of Neurology, Philadelphia, PA; University of Pennsylvania Perelman School of Medicine, Department of Neurology, Philadelphia, PA.; Hewson S; Hospital for Sick Children, Division of Clinical and Metabolic Genetics, Toronto, Ontario, Canada.; Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Jackson A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.; Josifova D; Guys and St Thomas NHS Trust, Clinical Genetics, London, United Kingdom.; Konstantino M; Yale Pediatric Genomics Discovery Program, New Haven, CT.; Leach ME; Oregon Health & Science University, Portland, OR.; Mak B; University of California Los Angeles, David Geffen School of Medicine, Department of Human Genetics, Los Angeles, CA; Current affiliation: Genome Medical, South San Francisco, CA.; McCormick D; King's College Hospital, Paediatric Neurosciences, London, United Kingdom.; McGee E; University of California Los Angeles, David Geffen School of Medicine, Department of Human Genetics, Los Angeles, CA; University of California Los Angeles, Clinical Genomics Center, Los Angeles, CA; University of California Los Angeles, Center for Duchenne Muscular Dystrophy, Los Angeles, CA.; Nelson S; University of California Los Angeles, David Geffen School of Medicine, Department of Human Genetics, Los Angeles, CA; University of California Los Angeles, Clinical Genomics Center, Los Angeles, CA; University of California Los Angeles, Center for Duchenne Muscular Dystrophy, Los Angeles, CA.; Nguyen J; Cook Children's Medical Center, Division of Genetics, Fort Worth, TX.; Nugent K; Baylor College of Medicine, Department of Pediatrics, Houston, TX; Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX; Current affiliation: Cooper Surgical, Trumbull, CT.; Ortega L; Cook Children's Medical Center, Division of Genetics, Fort Worth, TX.; Goodkin HP; University of Virginia School of Medicine, Charlottesville, VA.; Roeder E; Baylor College of Medicine, Department of Pediatrics, Houston, TX; Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, TX.; Roy S; Cook Children's Medical Center, Division of Endocrinology and Diabetes, Fort Worth, TX.; Sapp K; Indiana University School of Medicine, Indiana University Health Physicians, Indianapolis, IN.; Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD; Current affiliation: University of Iowa Carver College of Medicine, Iowa City, IA.; Sisodiya SM; Department of Clinical and Experimental Epilepsy, University College London Queen Square Institute of Neurology, London, WC1N 3BG, United Kingdom; Chalfont Centre for Epilepsy, Buckinghamshire, United Kingdom.; Stals K; Royal Devon & Exeter NHS Foundation Trust, Exeter Genomics Laboratory, Exeter, United Kingdom.; Towner S; University of Virginia School of Medicine, Charlottesville, VA.; Wilson W; University of Virginia School of Medicine, Charlottesville, VA.; Khokha MK; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT; Yale University School of Medicine, Department of Genetics, New Haven, CT.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Lucas CL; Yale Pediatric Genomics Discovery Program, New Haven, CT; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD.; Lakhani SA; Yale University School of Medicine, Department of Pediatrics, New Haven, CT; Yale Pediatric Genomics Discovery Program, New Haven, CT. Electronic address: saquib.lakhani@yale.edu.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Wright CF; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK. Electronic address: caroline.wright@sanger.ac.uk.; Fitzgerald TW; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Jones WD; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Clayton S; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; McRae JF; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; van Kogelenberg M; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; King DA; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Ambridge K; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Barrett DM; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Bayzetinova T; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Bevan AP; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Bragin E; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Chatzimichali EA; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Gribble S; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Jones P; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Krishnappa N; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Mason LE; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Miller R; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Morley KI; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK; Institute of Psychiatry, King's College London, London, UK; Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia.; Parthiban V; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Prigmore E; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Rajan D; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Sifrim A; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Swaminathan GJ; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Tivey AR; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Middleton A; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Parker M; The Ethox Centre, Nuffield Department of Population Health University of Oxford, Old Road Campus, Oxford, UK.; Carter NP; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Barrett JC; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; Hurles ME; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK.; FitzPatrick DR; MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, WGH, Edinburgh, UK.; Firth HV; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK; Cambridge University Hospitals Foundation Trust, Addenbrooke's Hospital, Cambridge, UK.

Publisher: Elsevier Country of Publication: England NLM ID: 2985213R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-547X (Electronic) Linking ISSN: 01406736 NLM ISO Abbreviation: Lancet Subsets: MEDLINE

Snijders Blok L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Rousseau J; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.; Twist J; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Ehresmann S; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.; Takaku M; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Nowak CB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Swoboda KJ; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Steeves MA; Department of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Sahai I; Department of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Wheeler P; Nemours Childrens Clinic, Orlando, FL 32827, USA.; Willing M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Fiala E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Kochhar A; Valley Children's Hospital, Madera, CA 93636, USA.; Gibson WT; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Cohen ASA; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Agbahovbe R; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.; Au PYB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.; Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust (Heavitree), Exeter, EX2 5DW, UK.; Anderson IJ; Division of Genetics, Department of Medicine, University of Tennessee Medical Center, Knoxville, TN 37920, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Warren HE; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Afenjar A; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris ; Department of Medical Genetics and Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.; Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France.; Nava C; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.; Buratti J; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Isapof A; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department Child Neurology and Reference Center for Neuromuscular Diseases 'Nord/Est/Ile-de-France', FILNEMUS, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.; Rodriguez D; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department of Child Neurology and National Reference Center for Neurogenetic Disorders, Armand Trousseau Hospital, GHUEP, AP-HP, INSERM U1141, 75012, Paris, France.; Lewandowski R; Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA 23298, USA.; Propst J; Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA 23298, USA.; van Essen T; Clinical Genetics Department, University Medical Center Groningen, Groningen, 9700RB, The Netherlands.; Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.; Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.; Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, 08826, Republic of Korea.; Price S; Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK.; Schnur RE; GeneDx, Gaithersburg, MD 20877, USA.; Douglas G; GeneDx, Gaithersburg, MD 20877, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.; Bialer MG; Northwell Health, Division of Medical Genetics and Genomics, Great Neck, NY 11021, USA.; Moore C; Northwell Health, Division of Medical Genetics and Genomics, Great Neck, NY 11021, USA.; Koopmans M; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Monroe GR; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Newbury-Ecob R; University Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.; Bownass L; University Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.; Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, A-5020, Austria.; Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.; Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.; Institute of Human Genetics, Technische Universität München, Munich, 81675, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, 85764, Germany.; Jakielski KJ; Communication Sciences and Disorders, Augustana College, Rock Island, IL 61201, USA.; Strand EA; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.; Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.; Roberts JD; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Petrovich RM; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Machida S; Waseda University, Tokyo, 169-8050, Japan.; Kurumizaka H; Waseda University, Tokyo, 169-8050, Japan.; Lelieveld S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Jansen S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Deriziotis P; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.; Faivre L; Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, 21070, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.; Thevenon J; Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, 21070, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.; Assoum M; Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, 21070, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.; Shriberg L; Waisman Center, Phonology Project, Madison, WI 53705-2280, USA.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Wade PA; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands. simon.fisher@mpi.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands. simon.fisher@mpi.nl.; Campeau PM; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada. p.campeau@umontreal.ca.; Sainte-Justine Hospital, University of Montreal, Montreal, QC H3T 1C5, Canada. p.campeau@umontreal.ca.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: PubMed not MEDLINE

Blok LS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Rousseau J; CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.; Twist J; National Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA.; Ehresmann S; CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.; Takaku M; National Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA.; Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.; Nowak CB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.; Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, 02115, USA.; Swoboda KJ; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.; Steeves MA; Department of Medical Genetics, Massachusetts General Hospital, Boston, MA, 02114, USA.; Sahai I; Department of Medical Genetics, Massachusetts General Hospital, Boston, MA, 02114, USA.; Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Wheeler P; Nemours Childrens Clinic, Orlando, FL, 32827, USA.; Willing M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Fiala E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Kochhar A; Valley Children's Hospital, Madera, CA, 93636, USA.; Gibson WT; British Columbia Children's Hospital Research Institute, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.; Cohen ASA; British Columbia Children's Hospital Research Institute, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.; Agbahovbe R; British Columbia Children's Hospital Research Institute, Vancouver, BC, V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC, V6H 3N1, Canada.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada.; Au PYB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada.; Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust (Heavitree), Exeter, EX2 5DW, UK.; Anderson IJ; Division of Genetics, Department of Medicine, University of Tennessee Medical Center, Knoxville, TN, 37920, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Warren HE; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Afenjar A; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris ; Department of Medical Genetics and Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.; Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France.; Nava C; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.; Buratti J; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Isapof A; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department Child Neurology and Reference Center for Neuromuscular Diseases 'Nord/Est/Ile-de-France', FILNEMUS, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.; Rodriguez D; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department of Child Neurology and National Reference Center for Neurogenetic Disorders, Armand Trousseau Hospital, GHUEP, AP-HP, INSERM U1141, 75012, Paris, France.; Lewandowski R; Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA, 23298, USA.; Propst J; Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA, 23298, USA.; van Essen T; Clinical Genetics Department, University Medical Center Groningen, Groningen, 9700RB, The Netherlands.; Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.; Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.; Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, 08826, Republic of Korea.; Price S; Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK.; Schnur RE; GeneDx, Gaithersburg, MD, 20877, USA.; Douglas G; GeneDx, Gaithersburg, MD, 20877, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD, 20877, USA.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.; Bialer MG; Northwell Health, Division of Medical Genetics and Genomics, Great Neck NY, 11021, USA.; Moore C; Northwell Health, Division of Medical Genetics and Genomics, Great Neck NY, 11021, USA.; Koopmans M; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Monroe GR; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Newbury-Ecob R; University Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.; Bownass L; University Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.; Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, A-5020, Austria.; Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.; Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.; Institute of Human Genetics, Technische Universität München, Munich, 81675, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, 85764, Germany.; Jakielski KJ; Communication Sciences and Disorders, Augustana College, Rock Island, IL, 61201, USA.; Strand EA; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA.; Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.; Roberts JD; National Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA.; Petrovich RM; National Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA.; Machida S; Waseda University, Tokyo, 169-8050, Japan.; Kurumizaka H; Waseda University, Tokyo, 169-8050, Japan.; Lelieveld S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Jansen S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Deriziotis P; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.; Faivre L; Equipe Génétique des Anomalies du Développement, Université de Bourgogne- Franche Comté, Dijon, 21070, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.; Thevenon J; Equipe Génétique des Anomalies du Développement, Université de Bourgogne- Franche Comté, Dijon, 21070, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.; Assoum M; Equipe Génétique des Anomalies du Développement, Université de Bourgogne- Franche Comté, Dijon, 21070, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.; Shriberg L; Waisman Center, Phonology Project, Madison, WI, 53705-2280, USA.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Wade PA; National Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA.; Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands. simon.fisher@mpi.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands. simon.fisher@mpi.nl.; Campeau PM; CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada. p.campeau@umontreal.ca.; Sainte-Justine Hospital, University of Montreal, Montreal, QC, H3T 1C5, Canada. p.campeau@umontreal.ca.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: PubMed not MEDLINE

Snijders Blok L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Rousseau J; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.; Twist J; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Ehresmann S; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.; Takaku M; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Venselaar H; Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Nowak CB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Swoboda KJ; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.; Steeves MA; Department of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Sahai I; Department of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Wheeler P; Nemours Childrens Clinic, Orlando, FL 32827, USA.; Willing M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Fiala E; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.; Kochhar A; Valley Children's Hospital, Madera, CA 93636, USA.; Gibson WT; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Cohen ASA; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Agbahovbe R; British Columbia Children's Hospital Research Institute, Vancouver, BC V5Z 4H4, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.; Au PYB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.; Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust (Heavitree), Exeter, EX2 5DW, UK.; Anderson IJ; Division of Genetics, Department of Medicine, University of Tennessee Medical Center, Knoxville, TN 37920, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Warren HE; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Afenjar A; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris ; Department of Medical Genetics and Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.; Keren B; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France.; Nava C; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Groupe de Recherche Clinique (GRC) 'déficience intellectuelle et autisme' UPMC, Paris, 75005, France.; INSERM, U 1127, CNRS UMR 7225, Institut du Cerveau et de la Moelle épinière, ICM, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, 75013, Paris, France.; Buratti J; AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, 75013, France.; Isapof A; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department Child Neurology and Reference Center for Neuromuscular Diseases 'Nord/Est/Ile-de-France', FILNEMUS, Armand Trousseau Hospital, GHUEP, AP-HP, Paris, 75012, France.; Rodriguez D; GRC ConCer-LD, Sorbonne Universités, UPMC Univ Paris 06; Department of Child Neurology and National Reference Center for Neurogenetic Disorders, Armand Trousseau Hospital, GHUEP, AP-HP, INSERM U1141, 75012, Paris, France.; Lewandowski R; Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA 23298, USA.; Propst J; Clinical Genetics Division, Virginia Commonwealth University Health System, Richmond, VA 23298, USA.; van Essen T; Clinical Genetics Department, University Medical Center Groningen, Groningen, 9700RB, The Netherlands.; Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.; Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 08826, Republic of Korea.; Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, 08826, Republic of Korea.; Price S; Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 7HE, UK.; Schnur RE; GeneDx, Gaithersburg, MD 20877, USA.; Douglas G; GeneDx, Gaithersburg, MD 20877, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, 91054, Germany.; Bialer MG; Northwell Health, Division of Medical Genetics and Genomics, Great Neck, NY 11021, USA.; Moore C; Northwell Health, Division of Medical Genetics and Genomics, Great Neck, NY 11021, USA.; Koopmans M; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Monroe GR; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, 3508AB, The Netherlands.; Newbury-Ecob R; University Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.; Bownass L; University Hospitals Bristol, Department of Clinical Genetics, St Michael's Hospital, Bristol, BS2 8EG, UK.; Bader I; Department of Clinical Genetics, University Children's Hospital, Paracelsus Medical University, Salzburg, A-5020, Austria.; Mayr JA; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.; Wortmann SB; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, A-5020, Austria.; Institute of Human Genetics, Technische Universität München, Munich, 81675, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, 85764, Germany.; Jakielski KJ; Communication Sciences and Disorders, Augustana College, Rock Island, IL 61201, USA.; Strand EA; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.; Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, 20246, Germany.; Roberts JD; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Petrovich RM; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Machida S; Waseda University, Tokyo, 169-8050, Japan.; Kurumizaka H; Waseda University, Tokyo, 169-8050, Japan.; Lelieveld S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Jansen S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Deriziotis P; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands.; Faivre L; Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, 21070, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.; Thevenon J; Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, 21070, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.; Assoum M; Equipe Génétique des Anomalies du Développement, Université de Bourgogne-Franche Comté, Dijon, 21070, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon et Université de Bourgogne, Dijon, 21079, France.; Shriberg L; Waisman Center, Phonology Project, Madison, WI 53705-2280, USA.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6500HB, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands.; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, 6202AZ, The Netherlands.; Wade PA; National Institute of Environmental Health Sciences, Research Triangle Park, NC 27709, USA.; Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, 6500AH, The Netherlands. simon.fisher@mpi.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, 6500HE, The Netherlands. simon.fisher@mpi.nl.; Campeau PM; CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada. p.campeau@umontreal.ca.; Sainte-Justine Hospital, University of Montreal, Montreal, QC H3T 1C5, Canada. p.campeau@umontreal.ca.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Aitken S; MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Firth HV; Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK; Clinical Genetic Department, Addenbrooke's Hospital Cambridge University Hospitals, Cambridge, UK.; McRae J; Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.; Halachev M; MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; South East Scotland Regional Genetics Services, Western General Hospital, Edinburgh, UK.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Parker MJ; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.; Lees MM; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3EH, UK.; Lachlan K; Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.; Sarkar A; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK.; Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.; Splitt M; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast BT9 7AB, UK.; Németh AH; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, Oxford, UK.; Scott RH; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3EH, UK.; Wright CF; University of Exeter Medical School, RILD Level 4, Royal Devon & Exeter Hospital, Barrack Road, Exeter, UK.; Marsh JA; MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.; Hurles ME; Wellcome Sanger Institute, Hinxton, Cambridgeshire CB10 1SA, UK.; FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address: david.fitzpatrick@ed.ac.uk.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

O'Donnell-Luria AH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA. Electronic address: Anne.ODonnell@childrens.harvard.edu.; Pais LS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.; Faundes V; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile.; Wood JC; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.; Sveden A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.; Luria V; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.; Accogli A; Department of Pediatrics, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Quebec, Canada; Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica Scienze Materno-Infantili, Università degli studi di Genova, 16126 Genova, Italy; IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Amburgey K; Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto M5G 1X8, ON, Canada.; Anderlid BM; Department of Molecular Medicine and Surgery, Centre for Molecular Medicine, Karolinska Institutet, Stockholm 17176, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm 17176, Sweden.; Azzarello-Burri S; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland.; Basinger AA; Genetics, Cook Children's Physician Network, Fort Worth, TX 76104, USA.; Bianchini C; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy.; Bird LM; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Division of Genetics, Rady Children's Hospital of San Diego, San Diego, CA 92123, USA.; Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany.; Carre W; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.; Ceulemans S; Division of Genetics, Rady Children's Hospital of San Diego, San Diego, CA 92123, USA.; Charles P; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France.; Cox H; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK; Birmingham Health Partners, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK.; Culliton L; Department of Neurology, Children's Mercy Hospital and Clinics, Kansas City, MO 64108, USA.; Currò A; Medical Genetics, University of Siena, 53100 Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Demurger F; Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, 35033 Rennes, France.; Dowling JJ; Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto M5G 1X8, ON, Canada.; Duban-Bedu B; Centre de Génétique Chromosomique, Groupement des Hôpitaux de l'Institut Catholique de Lille Hôpital Saint Vincent de Paul, 59020 Lille, France; Faculté de médecine de l'Université Catholoique de Lille, 59800 Lille, France.; Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France.; Eiset SE; Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus, Denmark.; Escobar LF; St. Vincent's Children's Hospital, Indianapolis, IN 46260, USA.; Ferrarini A; Medical Genetic Unit, Italian Hospital of Lugano, Lugano, Switzerland; Università della Svizzera Italiana, 6900 Lugano, Switzerland.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany.; Hashim M; Oxford National Institute for Health Research Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Heide S; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France.; Helbig KL; Division of Neurology and Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Helbig I; Division of Neurology and Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104 USA; Department of Neuropediatrics, University Medical Center, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.; Heredia R; GeneDx, Gaithersburg, MD 20877, USA.; Héron D; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France.; Isidor B; Service de Génétique Médicale, Hôpital Hôtel-Dieu, Centre Hospitalier Universitaire de Nantes, 44093 Nantes, France.; Jonasson AR; Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, FL 32610, USA.; Joset P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland.; Keren B; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France.; Kok F; Mendelics Genomic Analysis, Sao Paulo 04013, Brazil.; Kroes HY; Department of Medical Genetics, University Medical Center Utrecht, 3584 CX Utrecht, Netherlands.; Lavillaureix A; Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, 35033 Rennes, France.; Lu X; Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7DQ, UK.; Maas SM; Department of Clinical Genetics, Amsterdam University Medical Center, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.; Maegawa GHB; Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, FL 32610, USA.; Marcelis CLM; Department of Clinical Genetics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.; Mark PR; Division of Medical Genetics and Genomics, Spectrum Health, Grand Rapids, MI 49544, USA.; Masruha MR; Department of Neurology and Neurosurgery, Universidade de Federal de São Paulo, São Paulo 04023, Brazil.; McLaughlin HM; GeneDx, Gaithersburg, MD 20877, USA.; McWalter K; GeneDx, Gaithersburg, MD 20877, USA.; Melchinger EU; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany.; Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.; Nava C; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France.; Pendziwiat M; Department of Neuropediatrics, University Medical Center, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany.; Person R; GeneDx, Gaithersburg, MD 20877, USA.; Ramelli GP; Neuropediatric Unit, Pediatric Department of Southern Switzerland, San Giovanni Hospital, 6500 Bellinzona, Switzerland.; Ramos LLP; Mendelics Genomic Analysis, Sao Paulo 04013, Brazil.; Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland; Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases, University of Zurich, CH-8006 Zurich, Switzerland.; Reavey C; GeneDx, Gaithersburg, MD 20877, USA.; Renieri A; Medical Genetics, University of Siena, 53100 Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Rieß A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany.; Sanchez-Valle A; Department of Pediatrics, Division of Genetics and Metabolism, University of South Florida, Tampa, FL 33606, USA.; Sattar S; Section of Pediatric Neurology, Rady Children's Hospital, San Diego, CA 92123, USA; Department of Neurosciences, University of California San Diego, La Jolla, CA 92093, USA; Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA.; Saunders C; Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, Kansas City, MO 64108, USA; School of Medicine, University of Missouri, Kansas City, MO 64108, USA.; Schwarz N; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; Smol T; EA7364 Rares du Developpement Embryonnaire et du Metabolisme, Institut de Genetique Medicale, Centre Hospitalier Universitaire de Lille, University of Lille, F-59000 Lille, France.; Srour M; Department of Pediatrics, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Quebec, Canada.; Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland.; Syrbe S; Division of Child Neurology and Inherited Metabolic Diseases, Department of General Paediatrics, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.; Taylor JC; Oxford National Institute for Health Research Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.; Thiffault I; School of Medicine, University of Missouri, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital and Clinics, Kansas City, MO 64108, USA.; Trauner DA; Section of Pediatric Neurology, Rady Children's Hospital, San Diego, CA 92123, USA; Department of Neurosciences, University of California San Diego, La Jolla, CA 92093, USA; Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA.; van der Linden H Jr; Pediatric Neurology and Neurophysiology, Instituto de Neurologia de Goiania, Goiania 74210, Brazil.; van Koningsbruggen S; Department of Clinical Genetics, Amsterdam University Medical Center, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands.; Villard L; Department of Medical Genetics, Assistance Publique - Hôpitaux de Marseille, Hôpital d'Enfants de La Timone, 13005 Marseille, France; Marseille Medical Genetics Center, Aix Marseille Univ, Inserm, U1251, Marseille, France.; Vogel I; Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus, Denmark; Center for Fetal Diagnostics, Aarhus University Hospital, 8200 Aarhus, Denmark.; Vogt J; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK; Birmingham Health Partners, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK.; Weber YG; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; Department for Neurosurgery, University of Tübingen, 72076 Tübingen, Germany.; Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA.; Widjaja E; Department of Diagnostic Imaging, Hospital for Sick Children, University of Toronto, Toronto, M5G 1X8, ON, Canada.; Zak J; Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7DQ, UK; Department of Immunology and Microbiology, The Scripps Research Institute, La Jolla, CA 92037, USA.; Baxter S; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA.; Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University National Health Service Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: Lance.Rodan@childrens.harvard.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Gorman KM; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.; Meyer E; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Grozeva D; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 OXY, UK; Division of Psychological Medicine and Clinical Neuroscience, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK.; Spinelli E; Epilepsy Center, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; McTague A; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK.; Sanchis-Juan A; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0QQ UK.; Carss KJ; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge CB2 0PT, UK; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0QQ UK.; Bryant E; Epilepsy Center, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Division of Genetics, Birth Defects and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Reich A; GeneDx, Gaithersburg, MD 20877, USA.; Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, VIC, Australia.; Pressler RM; Department of Clinical Neurophysiology, Great Ormond Street Hospital, London WC1N 3JH, UK; Clinical Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Simpson MA; Division of Genetics and Molecular Medicine, King's College, London WC2R 2LS, UK.; Debelle GD; Department of General Paediatrics, Birmingham Children's Hospital, Birmingham B4 6NH, UK.; Wassmer E; Department of Paediatric Neurology, Birmingham Children's Hospital, Birmingham B4 6NH, UK.; Morton J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham B15 2TG, UK.; Sieciechowicz D; Epilepsy Center, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Departments of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Jan-Kamsteeg E; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, Netherlands.; Paciorkowski AR; Department of Neurology, Pediatrics and Biomedical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA.; King MD; Department of Neurology and Clinical Neurophysiology, Children's University Hospital, Temple Street, Dublin DO1 YC67, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin 4, Ireland.; Cross JH; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK; Departments of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Poduri A; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg 3084, VIC, Australia; Florey Institute and Murdoch Institute of Neuroscience and Mental Health, Parkville, 3052, VIC, Australia; Department of Paediatrics, Royal Children's Hospital, University of Melbourne, Parkville, 3052, VIC, Australia.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen 72706, Germany.; McCullagh G; Department of Neurology, Royal Manchester Children's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.; Millichap JJ; Division of Psychological Medicine and Clinical Neuroscience, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK; Departments of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Carvill GL; Ken and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.; Clayton-Smith J; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals, NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK.; Maher ER; Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge CB2 0QQ, UK.; Raymond FL; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 OXY, UK; NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge CB2 0QQ UK.; Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK. Electronic address: manju.kurian@ucl.ac.uk.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Faundes V; Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos , Universidad de Chile, Santiago 7830490, Chile.; Newman WG; Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Bernardini L; Cytogenetics Unit, Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo FG 71013, Italy.; Canham N; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK.; Clayton-Smith J; Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Dallapiccola B; Scientific Directorate, Bambino Gesù Children's Hospital, IRCCS, Rome 00146, Italy.; Davies SJ; Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK.; Demos MK; Division of Pediatric Neurology, Department of Pediatrics, University of British Columbia, Vancouver, BC V6H 3V4, Canada.; Goldman A; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Gill H; Department of Medical Genetics, Children's and Women's Health Centre of British Columbia, Vancouver, BC V6H 3N1, Canada.; Horton R; Wessex Clinical Genetics Service and Division of Human Genetics, Princess Anne Hospital, Southampton SO16 5YA, UK.; Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Kumar D; Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK.; Lehman A; Department of Medical Genetics, Children's and Women's Health Centre of British Columbia, Vancouver, BC V6H 3N1, Canada.; McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast HSC Trust, Belfast BT9 7AB, UK.; Morton J; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK.; Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK.; Rankin J; Peninsula Clinical Genetics Service, Exeter EX1 2ED, UK.; Robertson L; North of Scotland Regional Genetics Service, NHS Grampian, Department of Medical Genetics Medical School, Foresterhill, Aberdeen, AB25 2ZD, UK.; Temple IK; Wessex Clinical Genetics Service and Division of Human Genetics, Princess Anne Hospital, Southampton SO16 5YA, UK.; Banka S; Manchester Centre for Genomic Medicine, Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK. Electronic address: siddharth.banka@manchester.ac.uk.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Sadleir LG; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia. lynette.sadleir@otago.ac.nz scheffer@unimelb.edu.au.; Mountier EI; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Gill D; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Davis S; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Joshi C; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; DeVile C; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Kurian MA; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Mandelstam S; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Wirrell E; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Nickels KC; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Murali HR; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Carvill G; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Myers CT; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Mefford HC; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia.; Scheffer IE; From the Department of Paediatrics and Child Health (L.G.S., E.I.M.), University of Otago, Wellington, New Zealand; Department of Neurology (D.G.), University of Sydney, Australia; Department of Neurology (S.D.), Starship Children's Health, Auckland, New Zealand; Department of Neurology (C.J.), Children's Hospital Colorado, Anschutz Medical Campus, University of Colorado, Denver; Department of Neurology (C.D.V., M.A.K.), Great Ormond Street Hospital for Children; Developmental Neurosciences (M.A.K.), UCL Great Ormond Street Institute of Child Health, London; Wellcome Trust Sanger Institute (DDD Study Group), Hinxton, Cambridge, UK; Departments of Paediatrics and Radiology (S.M.), University of Melbourne; The Florey Institute of Neuroscience and Mental Health (S.M., I.E.S.); Department of Medical Imaging (S.M.), Royal Children's Hospital, Melbourne, Australia; Department of Neurology (E.W., K.C.N.), Mayo Clinic, Rochester, MN; Department of Neurology (H.R.M.), Marshfield Clinic, WI; Division of Genetic Medicine (G.C., C.T.M., H.C.M.), Department of Pediatrics, University of Washington, Seattle; and Departments of Medicine and Paediatrics (I.E.S.), University of Melbourne, Austin Health and Royal Children's Hospital, Australia. lynette.sadleir@otago.ac.nz scheffer@unimelb.edu.au.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Mircsof D; Chronobiology and Sleep Research Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Langouët M; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Rio M; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.; Moutton S; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Siquier-Pernet K; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Bole-Feysot C; Genomic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Cagnard N; Bioinformatic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Nitschke P; Bioinformatic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Gaspar L; Chronobiology and Sleep Research Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Žnidarič M; Chronobiology and Sleep Research Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Alibeu O; Genomic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Fritz AK; Institute of Anatomy, University of Zürich and Institute of Human Movement Sciences and Sport, ETH Zürich, Switzerland.; Wolfer DP; Institute of Anatomy, University of Zürich and Institute of Human Movement Sciences and Sport, ETH Zürich, Switzerland.; Schröter A; Molecular Imaging and Functional Pharmacology Group, University of Zürich, Zürich, Switzerland.; Bosshard G; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Rudin M; Molecular Imaging and Functional Pharmacology Group, University of Zürich, Zürich, Switzerland.; Koester C; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Crestani F; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Seebeck P; Center for Integrative Rodent Physiology, University of Zürich, Zürich, Switzerland.; Boddaert N; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Service de radiologie pédiatrique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.; Prescott K; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals National Health Service Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Chapeltown Road, Leeds, UK.; Hines R; Tufts University, Sackler School of Graduate Biomedical Sciences, Boston, Massachusetts, USA.; Moss SJ; Tufts University, Sackler School of Graduate Biomedical Sciences, Boston, Massachusetts, USA.; Fritschy JM; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Munnich A; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Amiel J; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.; Brown SA; Chronobiology and Sleep Research Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Tyagarajan SK; Neuromorphology Group, Institute of Pharmacology and Toxicology, University of Zürich, Zürich, Switzerland.; Colleaux L; INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris, France.

Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1726 (Electronic) Linking ISSN: 10976256 NLM ISO Abbreviation: Nat Neurosci Subsets: MEDLINE