Publications:

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Deep genomic characterization highlights complexities and prognostic markers of pediatric acute myeloid leukemia.

Communications Biology

Cheng, Chi-Keung CK; Yung, Yuk-Lin YL; Chan, Hoi-Yun HY; Leung, Kam-Tong KT; Chan, Kathy Y Y KYY; Leung, Alex W K AWK; Cheng, Frankie W T FWT; Li, Chi-Kong CK; Wan, Thomas S K TSK; Luo, Xi X; Pitts, Herbert-Augustus HA; Cheung, Joyce S JS; Chan, Natalie P H NPH; Ng, Margaret H L MHL

Publication Date: 2023-03-31

Variant appearance in text: ATM: 512A>G; Y171C; rs1060501616

PubMed Link: 37002311

Variant Present in the following documents:

• 42003_2023_4732_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: ATM: 512A>G; Tyr171Cys

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Atypical ATMs: Broadening the phenotypic spectrum of ATM-associated hereditary cancer.

Frontiers In Oncology

Borja, Nicholas A NA; Silva-Smith, Rachel R; Huang, Marilyn M; Parekh, Dipen J DJ; Sussman, Daniel D; Tekin, Mustafa M

Publication Date: 2023

Variant appearance in text: ATM: 512A>G; Tyr171Cys

PubMed Link: 36865800

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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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: 512A>G; Y171C

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Assessment of the role of translationally controlled tumor protein 1 (TPT1/TCTP) in breast cancer susceptibility and ATM signaling.

Clinical And Translational Radiation Oncology

Neuhäuser, Katharina K; Küper, Leonie L; Christiansen, Hans H; Bogdanova, Natalia N

Publication Date: 2019-02

Variant appearance in text: ATM: Y171C

PubMed Link: 30815593

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas.

Scientific Reports

Chan, Sock Hoai SH; Lim, Weng Khong WK; Ishak, Nur Diana Binte NDB; Li, Shao-Tzu ST; Goh, Wei Lin WL; Tan, Gek San GS; Lim, Kiat Hon KH; Teo, Melissa M; Young, Cedric Ng Chuan CNC; Malik, Simeen S; Tan, Mann Hong MH; Teh, Jonathan Yi Hui JYH; Chin, Francis Kuok Choon FKC; Kesavan, Sittampalam S; Selvarajan, Sathiyamoorthy S; Tan, Patrick P; Teh, Bin Tean BT; Soo, Khee Chee KC; Farid, Mohamad M; Quek, Richard R; Ngeow, Joanne J

Publication Date: 2017-09-06

Variant appearance in text: ATM: Tyr171Cys

PubMed Link: 28878254

Variant Present in the following documents:

• Main text
• 41598_2017_Article_10333.pdf
• 41598_2017_10333_MOESM1_ESM.pdf

View BVdb publication page

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