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: PC: 1139C>T; T380I

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.

Orphanet Journal Of Rare Diseases

Lin, Yiming Y; Lin, Bangbang B; Chen, Yanru Y; Zheng, Zhenzhu Z; Fu, Qingliu Q; Lin, Weihua W; Zhang, Weifeng W

Publication Date: 2021-12-04

Variant appearance in text: PC: 1139C>T

PubMed Link: 34863234

Variant Present in the following documents:

• 13023_2021_Article_2126.pdf

View BVdb publication page

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.

Orphanet Journal Of Rare Diseases

Lin, Yiming Y; Lin, Bangbang B; Chen, Yanru Y; Zheng, Zhenzhu Z; Fu, Qingliu Q; Lin, Weihua W; Zhang, Weifeng W

Publication Date: 2021-12-04

Variant appearance in text: PC: 1139C>T

PubMed Link: 34863234

Variant Present in the following documents:

• 13023_2021_Article_2126.pdf

View BVdb publication page