Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
Communications Biology
Musolf, Anthony M AM; Haarman, Annechien E G AEG; Luben, Robert N RN; Ong, Jue-Sheng JS; Patasova, Karina K; Trapero, Rolando Hernandez RH; Marsh, Joseph J; Jain, Ishika I; Jain, Riya R; Wang, Paul Zhiping PZ; Lewis, Deyana D DD; Tedja, Milly S MS; Iglesias, Adriana I AI; Li, Hengtong H; Cowan, Cameron S CS; , ; Biino, Ginevra G; Klein, Alison P AP; Duggal, Priya P; Mackey, David A DA; Hayward, Caroline C; Haller, Toomas T; Metspalu, Andres A; Wedenoja, Juho J; Pärssinen, Olavi O; Cheng, Ching-Yu CY; Saw, Seang-Mei SM; Stambolian, Dwight D; Hysi, Pirro G PG; Khawaja, Anthony P AP; Vitart, Veronique V; Hammond, Christopher J CJ; van Duijn, Cornelia M CM; Verhoeven, Virginie J M VJM; Klaver, Caroline C W CCW; Bailey-Wilson, Joan E JE
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
Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA.