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
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Brain : A Journal Of Neurology
Fry, Andrew E AE; Fawcett, Katherine A KA; Zelnik, Nathanel N; Yuan, Hongjie H; Thompson, Belinda A N BAN; Shemer-Meiri, Lilach L; Cushion, Thomas D TD; Mugalaasi, Hood H; Sims, David D; Stoodley, Neil N; Chung, Seo-Kyung SK; Rees, Mark I MI; Patel, Chirag V CV; Brueton, Louise A LA; Layet, Valérie V; Giuliano, Fabienne F; Kerr, Michael P MP; Banne, Ehud E; Meiner, Vardiella V; Lerman-Sagie, Tally T; Helbig, Katherine L KL; Kofman, Laura H LH; Knight, Kristin M KM; Chen, Wenjuan W; Kannan, Varun V; Hu, Chun C; Kusumoto, Hirofumi H; Zhang, Jin J; Swanger, Sharon A SA; Shaulsky, Gil H GH; Mirzaa, Ghayda M GM; Muir, Alison M AM; Mefford, Heather C HC; Dobyns, William B WB; Mackenzie, Amanda B AB; Mullins, Jonathan G L JGL; Lemke, Johannes R JR; Bahi-Buisson, Nadia N; Traynelis, Stephen F SF; Iago, Heledd F HF; Pilz, Daniela T DT
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.
Journal Of Human Genetics
Chen, Wenjuan W; Shieh, Christine C; Swanger, Sharon A SA; Tankovic, Anel A; Au, Margaret M; McGuire, Marianne M; Tagliati, Michele M; Graham, John M JM; Madan-Khetarpal, Suneeta S; Traynelis, Stephen F SF; Yuan, Hongjie H; Pierson, Tyler Mark TM
Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.
Plos Genetics
Ogden, Kevin K KK; Chen, Wenjuan W; Swanger, Sharon A SA; McDaniel, Miranda J MJ; Fan, Linlin Z LZ; Hu, Chun C; Tankovic, Anel A; Kusumoto, Hirofumi H; Kosobucki, Gabrielle J GJ; Schulien, Anthony J AJ; Su, Zhuocheng Z; Pecha, Joseph J; Bhattacharya, Subhrajit S; Petrovski, Slavé S; Cohen, Adam E AE; Aizenman, Elias E; Traynelis, Stephen F SF; Yuan, Hongjie H