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: 4511T>C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM6_ESM.xlsx, sheet 1

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Efficacy and Safety of Topical Mechanistic Target of Rapamycin Inhibitors for Facial Angiofibromas in Patients with Tuberous Sclerosis Complex: A Systematic Review and Network Meta-Analysis.

Biomedicines

Lin, Yu-Ting YT; Yu, Chia-Ling CL; Tu, Yu-Kang YK; Chi, Ching-Chi CC

Publication Date: 2022-03-31

Variant appearance in text: TSC2: 4511T>C

PubMed Link: 35453576

Variant Present in the following documents:

• biomedicines-10-00826.pdf

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A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex.

Bmc Medical Genetics

He, Shunzhi S; Lv, Na N; Bao, Hongchu H; Wang, Xiong X; Li, Jing J

Publication Date: 2020-09-11

Variant appearance in text: TSC2: 4511T>C; L1504P

PubMed Link: 32917147

Variant Present in the following documents:

• Main text
• 12881_2020_Article_1120.pdf

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