Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: ATM: 4909+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: ATM: 4909+1G>A; rs756987454

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS4.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 2

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: ATM: 4909+1G>A; rs756987454

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Nones, K K; Johnson, J J; Newell, F F; Patch, A M AM; Thorne, H H; Kazakoff, S H SH; de Luca, X M XM; Parsons, M T MT; Ferguson, K K; Reid, L E LE; McCart Reed, A E AE; Srihari, S S; Lakis, V V; Davidson, A L AL; Mukhopadhyay, P P; Holmes, O O; Xu, Q Q; Wood, S S; Leonard, C C; , ; , ; , ; Beesley, J J; Harris, J M JM; Barnes, D D; Degasperi, A A; Ragan, M A MA; Spurdle, A B AB; Khanna, K K KK; Lakhani, S R SR; Pearson, J V JV; Nik-Zainal, S S; Chenevix-Trench, G G; Waddell, N N; Simpson, P T PT

Publication Date: 2019-07-01

Variant appearance in text: ATM: 4909+1G>A

PubMed Link: 31090900

Variant Present in the following documents:

• Main text

View BVdb publication page

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Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

Breast Cancer Research : Bcr

Renault, Anne-Laure AL; Mebirouk, Noura N; Fuhrmann, Laetitia L; Bataillon, Guillaume G; Cavaciuti, Eve E; Le Gal, Dorothée D; Girard, Elodie E; Popova, Tatiana T; La Rosa, Philippe P; Beauvallet, Juana J; Eon-Marchais, Séverine S; Dondon, Marie-Gabrielle MG; d'Enghien, Catherine Dubois CD; Laugé, Anthony A; Chemlali, Walid W; Raynal, Virginie V; Labbé, Martine M; Bièche, Ivan I; Baulande, Sylvain S; Bay, Jacques-Olivier JO; Berthet, Pascaline P; Caron, Olivier O; Buecher, Bruno B; Faivre, Laurence L; Fresnay, Marc M; Gauthier-Villars, Marion M; Gesta, Paul P; Janin, Nicolas N; Lejeune, Sophie S; Maugard, Christine C; Moutton, Sébastien S; Venat-Bouvet, Laurence L; Zattara, Hélène H; Fricker, Jean-Pierre JP; Gladieff, Laurence L; Coupier, Isabelle I; , ; , ; , ; Chenevix-Trench, Georgia G; Hall, Janet J; Vincent-Salomon, Anne A; Stoppa-Lyonnet, Dominique D; Andrieu, Nadine N; Lesueur, Fabienne F

Publication Date: 2018-04-17

Variant appearance in text: ATM: 4909+1G>A

PubMed Link: 29665859

Variant Present in the following documents:

• Main text
• 13058_2018_Article_951.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: 4909+1G>A

PubMed Link: 27304073

Variant Present in the following documents:

• elife-14709-supp1.xlsx, sheet 1

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Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

Journal Of Medical Genetics

Li, Jun J; Meeks, Huong H; Feng, Bing-Jian BJ; Healey, Sue S; Thorne, Heather H; Makunin, Igor I; Ellis, Jonathan J; , ; Campbell, Ian I; Southey, Melissa M; Mitchell, Gillian G; Clouston, David D; Kirk, Judy J; Goldgar, David D; Chenevix-Trench, Georgia G

Publication Date: 2016-01

Variant appearance in text: ATM: 4909+1G>A

PubMed Link: 26534844

Variant Present in the following documents:

• Main text

View BVdb publication page

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