Publications:

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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: BMPR2: 251G>T; Cys84Phe

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: BMPR2: C84F

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: BMPR2: C84F

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension.

Scientific Reports

Pousada, Guillermo G; Lupo, Vincenzo V; Cástro-Sánchez, Sheila S; Álvarez-Satta, María M; Sánchez-Monteagudo, Ana A; Baloira, Adolfo A; Espinós, Carmen C; Valverde, Diana D

Publication Date: 2017-05-15

Variant appearance in text: BMPR2: 251G>T

PubMed Link: 28507310

Variant Present in the following documents:

• Main text
• 41598_2017_Article_2074.pdf

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Complex inheritance in Pulmonary Arterial Hypertension patients with several mutations.

Scientific Reports

Pousada, Guillermo G; Baloira, Adolfo A; Valverde, Diana D

Publication Date: 2016-09-15

Variant appearance in text: BMPR2: C84F

PubMed Link: 27630060

Variant Present in the following documents:

• Main text
• srep33570.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: BMPR-II: C84F

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

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Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.

Plos One

Pousada, Guillermo G; Baloira, Adolfo A; Vilariño, Carlos C; Cifrian, Jose Manuel JM; Valverde, Diana D

Publication Date: 2014

Variant appearance in text: BMPR2: 251G>T; C84F

PubMed Link: 24936649

Variant Present in the following documents:

• Main text
• pone.0100261.pdf

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