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: ACVRL1: 1124A>G; Tyr375Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia.

Clinical And Experimental Otorhinolaryngology

Kim, Bo-Gyeong BG; Jung, Joo-Hyun JH; Kim, Mi-Jung MJ; Moon, Eun-Hye EH; Oh, Jae-Hwan JH; Park, Jung-Woo JW; Cha, Heung-Eog HE; Kim, Ju-Hyun JH; Kim, Yoon-Jae YJ; Chung, Jun-Won JW; Hahm, Ki-Baik KB; Jin, Hong-Ryul HR; Jang, Yong-Ju YJ; Kim, Sung Wan SW; Chung, Seung-Kyu SK; Kim, Dae-Woo DW; Lee, Young Jae YJ; Kim, Seon-Tae ST

Publication Date: 2021-11

Variant appearance in text: HHT: 1124A>G

PubMed Link: 33677851

Variant Present in the following documents:

• Main text
• ceo-2020-02124.pdf
• ceo-2020-02124-suppl.pdf

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Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation.

Internal Medicine (Tokyo, Japan)

Yokokawa, Tetsuro T; Sugimoto, Koichi K; Kimishima, Yusuke Y; Misaka, Tomofumi T; Yoshihisa, Akiomi A; Morisaki, Hiroko H; Yamada, Osamu O; Nakazato, Kazuhiko K; Ishida, Takafumi T; Takeishi, Yasuchika Y

Publication Date: 2020-01-15

Variant appearance in text: ACVRL1: 1124A>G

PubMed Link: 31511490

Variant Present in the following documents:

• Main text
• 1349-7235-59-0221.pdf

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Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia.

Molecular Genetics & Genomic Medicine

Zhao, Yali Y; Zhang, Yuan Y; Wang, Xiangdong X; Zhang, Luo L

Publication Date: 2019-09

Variant appearance in text: ACVRL1: 1124A>G

PubMed Link: 31400083

Variant Present in the following documents:

• Main text
• MGG3-7-e893.pdf

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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: ACVRL1: 1124A>G

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

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