Publications:

Deciphering spatial genomic heterogeneity at a single cell resolution in multiple myeloma.

Nature Communications

Merz, Maximilian M; Merz, Almuth Maria Anni AMA; Wang, Jie J; Wei, Lei L; Hu, Qiang Q; Hutson, Nicholas N; Rondeau, Cherie C; Celotto, Kimberly K; Belal, Ahmed A; Alberico, Ronald R; Block, AnneMarie W AW; Mohammadpour, Hemn H; Wallace, Paul K PK; Tario, Joseph J; Luce, Jesse J; Glenn, Sean T ST; Singh, Prashant P; Herr, Megan M MM; Hahn, Theresa T; Samur, Mehmet M; Munshi, Nikhil N; Liu, Song S; McCarthy, Philip L PL; Hillengass, Jens J

Publication Date: 2022-02-10

Variant appearance in text: ATM: W1805*

PubMed Link: 35145077

Variant Present in the following documents:

• 41467_2022_28266_MOESM4_ESM.xlsx, sheet 9

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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: 5415G>A; W1805*

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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Dissection of major cancer gene variants in subsets of circulating tumor cells in advanced breast cancer.

Scientific Reports

D'Oronzo, Stella S; Lovero, Domenica D; Palmirotta, Raffaele R; Stucci, Luigia Stefania LS; Tucci, Marco M; Felici, Claudia C; Cascardi, Eliano E; Giardina, Carmela C; Cafforio, Paola P; Silvestris, Franco F

Publication Date: 2019-11-21

Variant appearance in text: ATM: W1805*

PubMed Link: 31754145

Variant Present in the following documents:

• Main text
• 41598_2019_Article_53660.pdf
• 41598_2019_53660_MOESM1_ESM.pdf

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Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife

Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S

Publication Date: 2016-06-15

Variant appearance in text: ATM: 5415G>A; Trp1805*

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

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Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer

Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB

Publication Date: 2015-04-14

Variant appearance in text: ATM: 5415G>A; Trp1805Ter

PubMed Link: 25742471

Variant Present in the following documents:

• bjc201580x7.xls, sheet 1

View BVdb publication page