Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: GABRB1: 737T>C; Phe246Ser
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
Plos Genetics
Zhu, Xiaolin X; Padmanabhan, Raghavendra R; Copeland, Brett B; Bridgers, Joshua J; Ren, Zhong Z; Kamalakaran, Sitharthan S; O'Driscoll-Collins, Ailbhe A; Berkovic, Samuel F SF; Scheffer, Ingrid E IE; Poduri, Annapurna A; Mei, Davide D; Guerrini, Renzo R; Lowenstein, Daniel H DH; Allen, Andrew S AS; Heinzen, Erin L EL; Goldstein, David B DB
Publication Date: 2017-11
Variant appearance in text: GABRB1: 737T>C; Phe246Ser
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy.
Journal Of Medical Genetics
Ishii, Atsushi A; Kang, Jing-Qiong JQ; Schornak, Cara C CC; Hernandez, Ciria C CC; Shen, Wangzhen W; Watkins, Joseph C JC; Macdonald, Robert L RL; Hirose, Shinichi S