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: 1750C>T; Arg584Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The Role of Bone Morphogenetic Protein Receptor Type 2 (BMPR2) and the Prospects of Utilizing Induced Pluripotent Stem Cells (iPSCs) in Pulmonary Arterial Hypertension Disease Modeling.

Cells

Devendran, Anichavezhi A; Kar, Sumanta S; Bailey, Rasheed R; Trivieri, Maria Giovanna MG

Publication Date: 2022-11-29

Variant appearance in text: BMPR2: R584X

PubMed Link: 36497082

Variant Present in the following documents:

• Main text
• cells-11-03823.pdf

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Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)

Michorowska, Sylwia S

Publication Date: 2021-08-09

Variant appearance in text: BMPR2: R584X

PubMed Link: 34451881

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00785.pdf

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Pulmonary arterial hypertension-associated genetic variants in combined post-capillary and pre-capillary pulmonary hypertension: a case report.

Pulmonary Circulation

L, Chomette C; S, Caravita C; C, Dewachter D; M, Abramowicz A; Jl, Vachiery V; Antoine, Bondue B

Publication Date: 2021

Variant appearance in text: BMPR2: 1750C>T; Arg584Ter

PubMed Link: 33738094

Variant Present in the following documents:

• Main text
• 10.1177_2045894021996571.pdf

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Approaches to treat pulmonary arterial hypertension by targeting BMPR2: from cell membrane to nucleus.

Cardiovascular Research

Dunmore, Benjamin J BJ; Jones, Rowena J RJ; Toshner, Mark R MR; Upton, Paul D PD; Morrell, Nicholas W NW

Publication Date: 2021-09-28

Variant appearance in text: BMPR2: R584X

PubMed Link: 33399862

Variant Present in the following documents:

• Main text

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Targeting translational read-through of premature termination mutations in BMPR2 with PTC124 for pulmonary arterial hypertension.

Pulmonary Circulation

Long, Lu L; Yang, Xudong X; Southwood, Mark M; Moore, Stephen S; Crosby, Alexi A; Upton, Paul D PD; Dunmore, Benjamin J BJ; Morrell, Nicholas W NW

Publication Date: 2020

Variant appearance in text: BMPR2: R584X

PubMed Link: 32733669

Variant Present in the following documents:

• Main text
• sj-pdf-1-pul-10.1177_2045894020935783.pdf
• 10.1177_2045894020935783.pdf

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: BMPR2: 1750C>T; Arg584*

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s002.xlsx, sheet 1

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Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Nature Communications

Gräf, Stefan S; Haimel, Matthias M; Bleda, Marta M; Hadinnapola, Charaka C; Southgate, Laura L; Li, Wei W; Hodgson, Joshua J; Liu, Bin B; Salmon, Richard M RM; Southwood, Mark M; Machado, Rajiv D RD; Martin, Jennifer M JM; Treacy, Carmen M CM; Yates, Katherine K; Daugherty, Louise C LC; Shamardina, Olga O; Whitehorn, Deborah D; Holden, Simon S; Aldred, Micheala M; Bogaard, Harm J HJ; Church, Colin C; Coghlan, Gerry G; Condliffe, Robin R; Corris, Paul A PA; Danesino, Cesare C; Eyries, Mélanie M; Gall, Henning H; Ghio, Stefano S; Ghofrani, Hossein-Ardeschir HA; Gibbs, J Simon R JSR; Girerd, Barbara B; Houweling, Arjan C AC; Howard, Luke L; Humbert, Marc M; Kiely, David G DG; Kovacs, Gabor G; MacKenzie Ross, Robert V RV; Moledina, Shahin S; Montani, David D; Newnham, Michael M; Olschewski, Andrea A; Olschewski, Horst H; Peacock, Andrew J AJ; Pepke-Zaba, Joanna J; Prokopenko, Inga I; Rhodes, Christopher J CJ; Scelsi, Laura L; Seeger, Werner W; Soubrier, Florent F; Stein, Dan F DF; Suntharalingam, Jay J; Swietlik, Emilia M EM; Toshner, Mark R MR; van Heel, David A DA; Vonk Noordegraaf, Anton A; Waisfisz, Quinten Q; Wharton, John J; Wort, Stephen J SJ; Ouwehand, Willem H WH; Soranzo, Nicole N; Lawrie, Allan A; Upton, Paul D PD; Wilkins, Martin R MR; Trembath, Richard C RC; Morrell, Nicholas W NW

Publication Date: 2018-04-12

Variant appearance in text: BMPR2: 1750C>T; Arg584Ter

PubMed Link: 29650961

Variant Present in the following documents:

• 41467_2018_3672_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: BMPR2: 1750C>T; R584*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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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: BMPR2: R584*

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

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Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing.

Molecular Genetics & Genomic Medicine

Vattulainen, Sanna S; Aho, Joonas J; Salmenperä, Pertteli P; Bruce, Siina S; Tallila, Jonna J; Gentile, Massimiliano M; Sankelo, Marja M; Laitinen, Tarja T; Koskenvuo, Juha W JW; Alastalo, Tero-Pekka TP; Myllykangas, Samuel S

Publication Date: 2015-07

Variant appearance in text: BMPR2: 1750C>T; Arg584X

PubMed Link: 26247051

Variant Present in the following documents:

• Main text
• mgg30003-0354.pdf

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Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations.

Respiratory Research

Pfarr, Nicole N; Szamalek-Hoegel, Justyna J; Fischer, Christine C; Hinderhofer, Katrin K; Nagel, Christian C; Ehlken, Nicola N; Tiede, Henning H; Olschewski, Horst H; Reichenberger, Frank F; Ghofrani, Ardeschir H A AH; Seeger, Werner W; Grünig, Ekkehard E

Publication Date: 2011-07-29

Variant appearance in text: BMPR2: 1750C>T; R584X

PubMed Link: 21801371

Variant Present in the following documents:

• Main text
• 1465-9921-12-99.pdf

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BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension.

American Journal Of Human Genetics

Machado, R D RD; Pauciulo, M W MW; Thomson, J R JR; Lane, K B KB; Morgan, N V NV; Wheeler, L L; Phillips, J A JA; Newman, J J; Williams, D D; Galiè, N N; Manes, A A; McNeil, K K; Yacoub, M M; Mikhail, G G; Rogers, P P; Corris, P P; Humbert, M M; Donnai, D D; Martensson, G G; Tranebjaerg, L L; Loyd, J E JE; Trembath, R C RC; Nichols, W C WC

Publication Date: 2001-01

Variant appearance in text: BMPR-II: R584X

PubMed Link: 11115378

Variant Present in the following documents:

• Main text

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