Publications:

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: SCN1A: 298T>G; F100V

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.

Frontiers In Neurology

Demos, Michelle M; Guella, Ilaria I; DeGuzman, Conrado C; McKenzie, Marna B MB; Buerki, Sarah E SE; Evans, Daniel M DM; Toyota, Eric B EB; Boelman, Cyrus C; Huh, Linda L LL; Datta, Anita A; Michoulas, Aspasia A; Selby, Kathryn K; Bjornson, Bruce H BH; Horvath, Gabriella G; Lopez-Rangel, Elena E; van Karnebeek, Clara D M CDM; Salvarinova, Ramona R; Slade, Erin E; Eydoux, Patrice P; Adam, Shelin S; Van Allen, Margot I MI; Nelson, Tanya N TN; Bolbocean, Corneliu C; Connolly, Mary B MB; Farrer, Matthew J MJ

Publication Date: 2019

Variant appearance in text: SCN1A: 298T>G

PubMed Link: 31164858

Variant Present in the following documents:

• Main text
• fneur-10-00434.pdf

View BVdb publication page