Publications:

Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders.

Human Mutation

DeRoin, Lia L; Cavalcante de Andrade Silva, Marcela M; Petras, Kristin K; Arndt, Kelly K; Phillips, Nathaniel N; Wanjari, Pankhuri P; Subramanian, Hari Prasanna HP; Montes, David D; McElherne, James J; Theissen, Megan M; Briese, Renee R; Das, Soma S; Godley, Lucy A LA; Segal, Jeremy J; Del Gaudio, Daniela D; Fitzpatrick, Carrie C; Churpek, Jane E JE

Publication Date: 2022-07

Variant appearance in text: ATM: 352C>T; Gln118*

PubMed Link: 35419889

Variant Present in the following documents:

• HUMU-43-950-s001.xlsx, sheet 6

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: ATM: 352C>T; Q118*

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

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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: 352C>T; Q118*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Seifert, Bryce A BA; O'Daniel, Julianne M JM; Amin, Krunal K; Marchuk, Daniel S DS; Patel, Nirali M NM; Parker, Joel S JS; Hoyle, Alan P AP; Mose, Lisle E LE; Marron, Andrew A; Hayward, Michele C MC; Bizon, Christopher C; Wilhelmsen, Kirk C KC; Evans, James P JP; Earp, H Shelton HS; Sharpless, Norman E NE; Hayes, D Neil DN; Berg, Jonathan S JS

Publication Date: 2016-08-15

Variant appearance in text: ATM: 352C>T; Gln118Ter

PubMed Link: 27083775

Variant Present in the following documents:

• Main text

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