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: CYBB: 1092G>A; Gly364=
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
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Nature Communications
Reijnders, M R F MRF; Kousi, M M; van Woerden, G M GM; Klein, M M; Bralten, J J; Mancini, G M S GMS; van Essen, T T; Proietti-Onori, M M; Smeets, E E J EEJ; van Gastel, M M; Stegmann, A P A APA; Stevens, S J C SJC; Lelieveld, S H SH; Gilissen, C C; Pfundt, R R; Tan, P L PL; Kleefstra, T T; Franke, B B; Elgersma, Y Y; Katsanis, N N; Brunner, H G HG