Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
Genes
Porto, Fernanda B O FBO; Jones, Evan M EM; Branch, Justin J; Soens, Zachry T ZT; Maia, Igor Mendes IM; Sena, Isadora F G IFG; Sampaio, Shirley A M SAM; Simões, Renata T RT; Chen, Rui R
Publication Date: 2017-11-29
Variant appearance in text: NMNAT1: 37G>A; Ala13Thr
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Nature Genetics
Koenekoop, Robert K RK; Wang, Hui H; Majewski, Jacek J; Wang, Xia X; Lopez, Irma I; Ren, Huanan H; Chen, Yiyun Y; Li, Yumei Y; Fishman, Gerald A GA; Genead, Mohammed M; Schwartzentruber, Jeremy J; Solanki, Naimesh N; Traboulsi, Elias I EI; Cheng, Jingliang J; Logan, Clare V CV; McKibbin, Martin M; Hayward, Bruce E BE; Parry, David A DA; Johnson, Colin A CA; Nageeb, Mohammed M; , ; Poulter, James A JA; Mohamed, Moin D MD; Jafri, Hussain H; Rashid, Yasmin Y; Taylor, Graham R GR; Keser, Vafa V; Mardon, Graeme G; Xu, Huidan H; Inglehearn, Chris F CF; Fu, Qing Q; Toomes, Carmel C; Chen, Rui R
NMNAT1 mutations cause Leber congenital amaurosis.
Nature Genetics
Falk, Marni J MJ; Zhang, Qi Q; Nakamaru-Ogiso, Eiko E; Kannabiran, Chitra C; Fonseca-Kelly, Zoe Z; Chakarova, Christina C; Audo, Isabelle I; Mackay, Donna S DS; Zeitz, Christina C; Borman, Arundhati Dev AD; Staniszewska, Magdalena M; Shukla, Rachna R; Palavalli, Lakshmi L; Mohand-Said, Saddek S; Waseem, Naushin H NH; Jalali, Subhadra S; Perin, Juan C JC; Place, Emily E; Ostrovsky, Julian J; Xiao, Rui R; Bhattacharya, Shomi S SS; Consugar, Mark M; Webster, Andrew R AR; Sahel, José-Alain JA; Moore, Anthony T AT; Berson, Eliot L EL; Liu, Qin Q; Gai, Xiaowu X; Pierce, Eric A EA