Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15
Variant appearance in text: FAT1: 11072A>G; His3691Arg
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
Publication Date: 2022-09
Variant appearance in text: FAT1: 11072A>G; H3691R
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Human Genomics
Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Nature Genetics
Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ
Publication Date: 2017-04
Variant appearance in text: FAT1: 11072A>G; His3691Arg
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Nature
Neale, Benjamin M BM; Kou, Yan Y; Liu, Li L; Ma'ayan, Avi A; Samocha, Kaitlin E KE; Sabo, Aniko A; Lin, Chiao-Feng CF; Stevens, Christine C; Wang, Li-San LS; Makarov, Vladimir V; Polak, Paz P; Yoon, Seungtai S; Maguire, Jared J; Crawford, Emily L EL; Campbell, Nicholas G NG; Geller, Evan T ET; Valladares, Otto O; Schafer, Chad C; Liu, Han H; Zhao, Tuo T; Cai, Guiqing G; Lihm, Jayon J; Dannenfelser, Ruth R; Jabado, Omar O; Peralta, Zuleyma Z; Nagaswamy, Uma U; Muzny, Donna D; Reid, Jeffrey G JG; Newsham, Irene I; Wu, Yuanqing Y; Lewis, Lora L; Han, Yi Y; Voight, Benjamin F BF; Lim, Elaine E; Rossin, Elizabeth E; Kirby, Andrew A; Flannick, Jason J; Fromer, Menachem M; Shakir, Khalid K; Fennell, Tim T; Garimella, Kiran K; Banks, Eric E; Poplin, Ryan R; Gabriel, Stacey S; DePristo, Mark M; Wimbish, Jack R JR; Boone, Braden E BE; Levy, Shawn E SE; Betancur, Catalina C; Sunyaev, Shamil S; Boerwinkle, Eric E; Buxbaum, Joseph D JD; Cook, Edwin H EH; Devlin, Bernie B; Gibbs, Richard A RA; Roeder, Kathryn K; Schellenberg, Gerard D GD; Sutcliffe, James S JS; Daly, Mark J MJ
Publication Date: 2012-04-04
Variant appearance in text: FAT1: 11072A>G; H3691R