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: 107163_107167del; Phe35721fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Yiş, Uluç U; Diniz, Gülden G; Hazan, Filiz F; Daimagüler, Hülya Sevcan HS; Baysal, Bahar Toklu BT; Baydan, Figen F; Akinci, Gülçin G; Ünalp, Aycan A; Aktan, Gül G; Bayram, Erhan E; Hiz, Semra S; Paketçi, Cem C; Okur, Derya D; Özer, Erdener E; Danyeli, Ayça Ersen AE; Polat, Muzaffer M; Uyanik, Gökhan G; Çirak, Sebahattin S

Publication Date: 2018-09

Variant appearance in text: TTN: 107163_107167delTACTT

PubMed Link: 30838351

Variant Present in the following documents:

• Main text
• am-2018-03-210.pdf

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: TTN: 107163_107167delTACTT; Phe35721Leufs

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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