Publications:

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: 5496+2_5496+5del

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Analysis of Clinical and Genetic Characterization of Three Ataxia-Telangiectasia Pedigrees With Novel ATM Gene Mutations.

Frontiers In Pediatrics

Huang, Peng P; Zhang, Lu L; Tang, Li L; Ren, Yi Y; Peng, Hong H; Xiong, Jie J; Liu, Lingjuan L; Xu, Jie J; Xiao, Yangyang Y; Li, Jian J; Mao, Dingan D; Liu, Liqun L

Publication Date: 2022

Variant appearance in text: ATM: 5495_5496+2del

PubMed Link: 35586824

Variant Present in the following documents:

• Main text
• fped-10-877826.pdf

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The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets.

Nature Communications

van Riet, Job J; van de Werken, Harmen J G HJG; Cuppen, Edwin E; Eskens, Ferry A L M FALM; Tesselaar, Margot M; van Veenendaal, Linde M LM; Klümpen, Heinz-Josef HJ; Dercksen, Marcus W MW; Valk, Gerlof D GD; Lolkema, Martijn P MP; Sleijfer, Stefan S; Mostert, Bianca B

Publication Date: 2021-07-29

Variant appearance in text: ATM: 5496+2_5496+5del

PubMed Link: 34326338

Variant Present in the following documents:

• 41467_2021_24812_MOESM4_ESM.xlsx, sheet 7

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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: 5496+2_5496+5del

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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