Publications:

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: ATM: A2622V

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

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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: 7865C>T; A2622V

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.

Biomedicines

Jaudon, Fanny F; Baldassari, Simona S; Musante, Ilaria I; Thalhammer, Agnes A; Zara, Federico F; Cingolani, Lorenzo A LA

Publication Date: 2020-09-05

Variant appearance in text: ATM: A2622V

PubMed Link: 32899500

Variant Present in the following documents:

• Main text
• biomedicines-08-00332.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: 7865C>T; Ala2622Val

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

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Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.

Nucleic Acid Therapeutics

Siva, Kavitha K; Covello, Giuseppina G; Denti, Michela A MA

Publication Date: 2014-02

Variant appearance in text: ATM: 7865C>T; A2622V

PubMed Link: 24506781

Variant Present in the following documents:

• Main text

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Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites.

Bmc Bioinformatics

Faber, Kirsten K; Glatting, Karl-Heinz KH; Mueller, Phillip J PJ; Risch, Angela A; Hotz-Wagenblatt, Agnes A

Publication Date: 2011

Variant appearance in text: ATM: A2622V

PubMed Link: 21992029

Variant Present in the following documents:

• 1471-2105-12-S4-S2-S1.pdf

View BVdb publication page

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: ATM: A2622V

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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Arginine-rich cell-penetrating peptide dramatically enhances AMO-mediated ATM aberrant splicing correction and enables delivery to brain and cerebellum.

Human Molecular Genetics

Du, Liutao L; Kayali, Refik R; Bertoni, Carmen C; Fike, Francesca F; Hu, Hailiang H; Iversen, Patrick L PL; Gatti, Richard A RA

Publication Date: 2011-08-15

Variant appearance in text: ATM: 7865C>T

PubMed Link: 21576124

Variant Present in the following documents:

• Main text

View BVdb publication page

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Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Du, Liutao L; Pollard, Julianne M JM; Gatti, Richard A RA

Publication Date: 2007-04-03

Variant appearance in text: ATM: A2622V

PubMed Link: 17389389

Variant Present in the following documents:

• Main text

View BVdb publication page

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