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: TERT: 887A>C; His296Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4

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Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A

Publication Date: 2022-08-15

Variant appearance in text: TERT: H296P; rs778187343

PubMed Link: 35653148

Variant Present in the following documents:

• ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5

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Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.

Breast Cancer Research : Bcr

Li, Na N; Rowley, Simone M SM; Thompson, Ella R ER; McInerny, Simone S; Devereux, Lisa L; Amarasinghe, Kaushalya C KC; Zethoven, Magnus M; Lupat, Richard R; Goode, David D; Li, Jason J; Trainer, Alison H AH; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2018-01-09

Variant appearance in text: TERT: 887A>C; His296Pro

PubMed Link: 29316957

Variant Present in the following documents:

• 13058_2017_929_MOESM1_ESM.xlsx, sheet 3

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Telomerase reverse transcriptase germline mutations and hepatocellular carcinoma in patients with nonalcoholic fatty liver disease.

Cancer Medicine

Donati, Benedetta B; Pietrelli, Alessandro A; Pingitore, Piero P; Dongiovanni, Paola P; Caddeo, Andrea A; Walker, Lucy L; Baselli, Guido G; Pelusi, Serena S; Rosso, Chiara C; Vanni, Ester E; Daly, Ann A; Mancina, Rosellina Margherita RM; Grieco, Antonio A; Miele, Luca L; Grimaudo, Stefania S; Craxi, Antonio A; Petta, Salvatore S; De Luca, Laura L; Maier, Silvia S; Soardo, Giorgio G; Bugianesi, Elisabetta E; Colli, Fabio F; Romagnoli, Renato R; Anstee, Quentin M QM; Reeves, Helen L HL; Fracanzani, Anna Ludovica AL; Fargion, Silvia S; Romeo, Stefano S; Valenti, Luca L

Publication Date: 2017-08

Variant appearance in text: TERT: His296Pro; rs778187343

PubMed Link: 28677271

Variant Present in the following documents:

• Main text
• CAM4-6-1930.pdf

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