Publications:

An integrated genetic analysis of epileptogenic brain malformed lesions.

Acta Neuropathologica Communications

Fujita, Atsushi A; Kato, Mitsuhiro M; Sugano, Hidenori H; Iimura, Yasushi Y; Suzuki, Hiroharu H; Tohyama, Jun J; Fukuda, Masafumi M; Ito, Yosuke Y; Baba, Shimpei S; Okanishi, Tohru T; Enoki, Hideo H; Fujimoto, Ayataka A; Yamamoto, Akiyo A; Kawamura, Kentaro K; Kato, Shinsuke S; Honda, Ryoko R; Ono, Tomonori T; Shiraishi, Hideaki H; Egawa, Kiyoshi K; Shirai, Kentaro K; Yamamoto, Shinji S; Hayakawa, Itaru I; Kawawaki, Hisashi H; Saida, Ken K; Tsuchida, Naomi N; Uchiyama, Yuri Y; Hamanaka, Kohei K; Miyatake, Satoko S; Mizuguchi, Takeshi T; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Miyake, Noriko N; Kakita, Akiyoshi A; Matsumoto, Naomichi N

Publication Date: 2023-03-02

Variant appearance in text: TSC2: Gly1654Ser

PubMed Link: 36864519

Variant Present in the following documents:

• Main text
• 40478_2023_1532_MOESM1_ESM.pdf
• 40478_2023_Article_1532.pdf

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: TSC2: G1654S; rs771911660

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: TSC2: 4960G>A; Gly1654Ser; rs771911660

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: TSC2: 4960G>A; Gly1654Ser; rs771911660

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: TSC2: 4960G>A; G1654S

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page