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: CCT5: 1060G>A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.

Molecular Genetics & Genomic Medicine

Tsang, Mandy H Y MHY; Chiu, Annie T G ATG; Kwong, Bernard M H BMH; Liang, Rui R; Yu, Mullin H C MHC; Yeung, Kit-San KS; Ho, Wetor H L WHL; Mak, Christopher C Y CCY; Leung, Gordon K C GKC; Pei, Steven L C SLC; Fung, Jasmine L F JLF; Wong, Virginia C N VCN; Muntoni, Francesco F; Chung, Brian H Y BHY; Chan, Sophelia H S SHS

Publication Date: 2020-05

Variant appearance in text: CCT5: 1060G>A; Gly354Ser

PubMed Link: 32154989

Variant Present in the following documents:

• Main text

View BVdb publication page