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
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
American Journal Of Human Genetics
Galer, Peter D PD; Ganesan, Shiva S; Lewis-Smith, David D; McKeown, Sarah E SE; Pendziwiat, Manuela M; Helbig, Katherine L KL; Ellis, Colin A CA; Rademacher, Annika A; Smith, Lacey L; Poduri, Annapurna A; Seiffert, Simone S; von Spiczak, Sarah S; Muhle, Hiltrud H; van Baalen, Andreas A; , ; , ; , ; , ; Thomas, Rhys H RH; Krause, Roland R; Weber, Yvonne Y; Helbig, Ingo I
Publication Date: 2020-10-01
Variant appearance in text: SCN1A: C959Y; rs794726716