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: TTN: 85090C>T; Arg28364Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.

Jama Cardiology

Yoneda, Zachary T ZT; Anderson, Katherine C KC; Quintana, Joseph A JA; O'Neill, Matthew J MJ; Sims, Richard A RA; Glazer, Andrew M AM; Shaffer, Christian M CM; Crawford, Diane M DM; Stricker, Thomas T; Ye, Fei F; Wells, Quinn Q; Stevenson, Lynne W LW; Michaud, Gregory F GF; Darbar, Dawood D; Lubitz, Steven A SA; Ellinor, Patrick T PT; Roden, Dan M DM; Shoemaker, M Benjamin MB

Publication Date: 2021-12-01

Variant appearance in text: TTN: 85090C>T; Arg28364X

PubMed Link: 34495297

Variant Present in the following documents:

• jamacardiol-e213370-s001.pdf

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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Circulation

Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R

Publication Date: 2020-02-04

Variant appearance in text: TTN: 85090C>T; Arg28364Ter

PubMed Link: 31983221

Variant Present in the following documents:

• cir-141-387-s002.xlsx, sheet 3

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APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.

Cell Reports

Roper, Nitin N; Gao, Shaojian S; Maity, Tapan K TK; Banday, A Rouf AR; Zhang, Xu X; Venugopalan, Abhilash A; Cultraro, Constance M CM; Patidar, Rajesh R; Sindiri, Sivasish S; Brown, Anna-Leigh AL; Goncearenco, Alexander A; Panchenko, Anna R AR; Biswas, Romi R; Thomas, Anish A; Rajan, Arun A; Carter, Corey A CA; Kleiner, David E DE; Hewitt, Stephen M SM; Khan, Javed J; Prokunina-Olsson, Ludmila L; Guha, Udayan U

Publication Date: 2019-03-05

Variant appearance in text: TTN: R28364*

PubMed Link: 30840888

Variant Present in the following documents:

• NIHMS1523294-supplement-6.xlsx, sheet 2
• NIHMS1523294-supplement-6.xlsx, sheet 1

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Withdrawal of pharmacological treatment for heart failure in patients with recovered dilated cardiomyopathy (TRED-HF): an open-label, pilot, randomised trial.

Lancet (London, England)

Halliday, Brian P BP; Wassall, Rebecca R; Lota, Amrit S AS; Khalique, Zohya Z; Gregson, John J; Newsome, Simon S; Jackson, Robert R; Rahneva, Tsveta T; Wage, Rick R; Smith, Gillian G; Venneri, Lucia L; Tayal, Upasana U; Auger, Dominique D; Midwinter, William W; Whiffin, Nicola N; Rajani, Ronak R; Dungu, Jason N JN; Pantazis, Antonis A; Cook, Stuart A SA; Ware, James S JS; Baksi, A John AJ; Pennell, Dudley J DJ; Rosen, Stuart D SD; Cowie, Martin R MR; Cleland, John G F JGF; Prasad, Sanjay K SK

Publication Date: 2019-01-05

Variant appearance in text: TTN: 85090C>T

PubMed Link: 30429050

Variant Present in the following documents:

• mmc1.pdf

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