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: RB1: 2106+2T>C

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: RB1: 2106+2T>C

PubMed Link: 34326338

Variant Present in the following documents:

• 41467_2021_24812_MOESM4_ESM.xlsx, sheet 7

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Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.

European Journal Of Human Genetics : Ejhg

Imperatore, Valentina V; Pinto, Anna Maria AM; Gelli, Elisa E; Trevisson, Eva E; Morbidoni, Valeria V; Frullanti, Elisa E; Hadjistilianou, Theodora T; De Francesco, Sonia S; Toti, Paolo P; Gusson, Elena E; Roversi, Gaia G; Accogli, Andrea A; Capra, Valeria V; Mencarelli, Maria Antonietta MA; Renieri, Alessandra A; Ariani, Francesca F

Publication Date: 2018-07

Variant appearance in text: RB1: 2106+2T>C

PubMed Link: 29662154

Variant Present in the following documents:

• Main text

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