Publications:

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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: DNMT3A: 1913C>G; S638C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature

Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS

Publication Date: 2022-06

Variant appearance in text: DNMT3A: S638C

PubMed Link: 35650444

Variant Present in the following documents:

• 41586_2022_4785_MOESM9_ESM.xlsx, sheet 1
• 41586_2022_4785_MOESM11_ESM.xlsx, sheet 1
• 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1

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Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

Cancers

González-López, Oscar O; Muñoz-González, Javier I JI; Orfao, Alberto A; Álvarez-Twose, Iván I; García-Montero, Andrés C AC

Publication Date: 2022-05-18

Variant appearance in text: DNMT3A: S638C

PubMed Link: 35626091

Variant Present in the following documents:

• cancers-14-02487.pdf

View BVdb publication page

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Mutation profile of acute myeloid leukaemia in a Chinese cohort by targeted next-generation sequencing.

Cancer Reports (Hoboken, N.J.)

Lit, Benny Man Wai BMW; Guo, Belinda B BB; Malherbe, Jacques A J JAJ; Kwong, Yok Lam YL; Erber, Wendy N WN

Publication Date: 2022-10

Variant appearance in text: DNMT3A: S638C

PubMed Link: 34617422

Variant Present in the following documents:

• CNR2-5-e1573.pdf

View BVdb publication page

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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: DNMT3A: 1913C>G; S638C

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Angioimmunoblastic T-cell lymphoma contains multiple clonal T-cell populations derived from a common TET2 mutant progenitor cell.

The Journal Of Pathology

Yao, Wen-Qing WQ; Wu, Fangtian F; Zhang, Wenyan W; Chuang, Shih-Sung SS; Thompson, Joe S JS; Chen, Zi Z; Zhang, Shao-Wei SW; Clipson, Alexandra A; Wang, Ming M; Liu, Hongxiang H; Bibawi, Hani H; Huang, Yuanxue Y; Campos, Luis L; Grant, John W JW; Wright, Penny P; Ei-Daly, Hesham H; Rásó-Barnett, Lívia L; Farkas, Lorant L; Follows, George A GA; Gao, Zifen Z; Attygalle, Ayoma D AD; Ashton-Key, Margaret M; Liu, Weiping W; Du, Ming-Qing MQ

Publication Date: 2020-03

Variant appearance in text: DNMT3A: S638C

PubMed Link: 31859368

Variant Present in the following documents:

• PATH-250-346-s001.pdf

View BVdb publication page

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