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: PKD1: 5738C>T; A1913V

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Scientific Reports

Alonso-Gonzalez, A A; Calaza, M M; Amigo, J J; González-Peñas, J J; Martínez-Regueiro, R R; Fernández-Prieto, M M; Parellada, M M; Arango, C C; Rodriguez-Fontenla, Cristina C; Carracedo, A A

Publication Date: 2021-01-11

Variant appearance in text: PKD1: 5738C>T

PubMed Link: 33431980

Variant Present in the following documents:

• 41598_2020_79412_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page