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: BRAF: 1294T>C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

Clinical and Molecular Findings of Tunisian Patients with RASopathies.

Molecular Syndromology

Louati, Rim R; Abdelmoula, N Bouayed NB; Trabelsi, Imen I; Abid, Dorra D; Lissewski, Christina C; Kharrat, Najla N; Kamoun, Samir S; Zenker, Martin M; Rebai, Tarek T

Publication Date: 2014-08

Variant appearance in text: BRAF: 1294T>C

PubMed Link: 25337068

Variant Present in the following documents:

• Main text

View BVdb publication page