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: TSC2: 4269G>C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: TSC2: 4269G>C; E1423D

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis.

Annals Of Neurology

Jia, Xiaoming X; Madireddy, Lohith L; Caillier, Stacy S; Santaniello, Adam A; Esposito, Federica F; Comi, Giancarlo G; Stuve, Olaf O; Zhou, Yuan Y; Taylor, Bruce B; Kilpatrick, Trevor T; Martinelli-Boneschi, Filippo F; Cree, Bruce A C BAC; Oksenberg, Jorge R JR; Hauser, Stephen L SL; Baranzini, Sergio E SE

Publication Date: 2018-07

Variant appearance in text: TSC2: L1423L

PubMed Link: 29908077

Variant Present in the following documents:

• Main text
• ANA-84-51.pdf

View BVdb publication page