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: ENG: 1334del; Met445fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation

Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E

Publication Date: 2015-12

Variant appearance in text: ENG: 1334delT; M445Rfs*46

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

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Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasia.

Molecular Syndromology

Govani, F S FS; Giess, A A; Mollet, I G IG; Begbie, M E ME; Jones, M D MD; Game, L L; Shovlin, C L CL

Publication Date: 2013-04

Variant appearance in text: ENG: 1334delT

PubMed Link: 23801935

Variant Present in the following documents:

• Main text

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Genetics and genomics of pulmonary arterial hypertension.

Journal Of The American College Of Cardiology

Machado, Rajiv D RD; Eickelberg, Oliver O; Elliott, C Gregory CG; Geraci, Mark W MW; Hanaoka, Masayuki M; Loyd, James E JE; Newman, John H JH; Phillips, John A JA; Soubrier, Florent F; Trembath, Richard C RC; Chung, Wendy K WK

Publication Date: 2009-06-30

Variant appearance in text: ENG: 1334delT

PubMed Link: 19555857

Variant Present in the following documents:

• Main text

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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal Of Medical Genetics

Abdalla, S A SA; Letarte, M M

Publication Date: 2006-02

Variant appearance in text: ENG: 1334delT

PubMed Link: 15879500

Variant Present in the following documents:

• Main text

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