Publications:

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: ATM: S421*

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ATM: 1262C>G; S421*

PubMed Link: 34253785

Variant Present in the following documents:

• Main text
• 41598_2021_Article_93715.pdf
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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Multiregional Sequencing of IDH-WT Glioblastoma Reveals High Genetic Heterogeneity and a Dynamic Evolutionary History.

Cancers

Franceschi, Sara S; Civita, Prospero P; Pasqualetti, Francesco F; Lessi, Francesca F; Modena, Martina M; Barachini, Serena S; Morelli, Mariangela M; Santonocito, Orazio O; Vannozzi, Riccardo R; Pilkington, Geoffrey J GJ; Ortenzi, Valerio V; Naccarato, Antonio Giuseppe AG; Aretini, Paolo P; Mazzanti, Chiara Maria CM

Publication Date: 2021-04-23

Variant appearance in text: ATM: Ser421Ter

PubMed Link: 33922652

Variant Present in the following documents:

• Main text

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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: ATM: 1262C>G; S421*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page