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: 1471C>T; Arg491Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Structural basis for ALK2/BMPR2 receptor complex signaling through kinase domain oligomerization.

Nature Communications

Agnew, Christopher C; Ayaz, Pelin P; Kashima, Risa R; Loving, Hanna S HS; Ghatpande, Prajakta P; Kung, Jennifer E JE; Underbakke, Eric S ES; Shan, Yibing Y; Shaw, David E DE; Hata, Akiko A; Jura, Natalia N

Publication Date: 2021-08-16

Variant appearance in text: BMPR2: R491W

PubMed Link: 34400635

Variant Present in the following documents:

• Main text
• 41467_2021_Article_25248.pdf

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Screening for pulmonary arterial hypertension in adults carrying a BMPR2 mutation.

The European Respiratory Journal

Montani, David D; Girerd, Barbara B; Jaïs, Xavier X; Laveneziana, Pierantonio P; Lau, Edmund M T EMT; Bouchachi, Amir A; Hascoët, Sébastien S; Günther, Sven S; Godinas, Laurent L; Parent, Florence F; Guignabert, Christophe C; Beurnier, Antoine A; Chemla, Denis D; Hervé, Philippe P; Eyries, Mélanie M; Soubrier, Florent F; Simonneau, Gérald G; Sitbon, Olivier O; Savale, Laurent L; Humbert, Marc M

Publication Date: 2021-07

Variant appearance in text: BMPR2: 1471C>T; Arg491Trp

PubMed Link: 33380512

Variant Present in the following documents:

• ERJ-04229-2020.Supplement.pdf

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Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.

Genes

van den Heuvel, Lieke M LM; Jansen, Samara M A SMA; Alsters, Suzanne I M SIM; Post, Marco C MC; van der Smagt, Jasper J JJ; Handoko-De Man, Frances S FS; van Tintelen, J Peter JP; Gille, Hans H; Christiaans, Imke I; Vonk Noordegraaf, Anton A; Bogaard, HarmJan H; Houweling, Arjan C AC

Publication Date: 2020-10-13

Variant appearance in text: BMPR2: 1471C>T; Arg491Trp

PubMed Link: 33066286

Variant Present in the following documents:

• Main text

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Prevalence and clinical features of bone morphogenetic protein receptor type 2 mutation in Korean idiopathic pulmonary arterial hypertension patients: The PILGRIM explorative cohort.

Plos One

Jang, Albert Youngwoo AY; Kim, Bo-Gyeong BG; Kwon, Sunkoo S; Seo, Jiyoung J; Kim, Hyung Kwan HK; Chang, Hyuk-Jae HJ; Chang, Sung-A SA; Cho, Goo-Yeong GY; Rhee, Sang Jae SJ; Jung, Hae Ok HO; Kim, Kyung-Hee KH; Seo, Hye Sun HS; Kim, Kye Hun KH; Shin, Jinho J; Lee, Jun Soo JS; Kim, Minsu M; Lee, Young Jae YJ; Chung, Wook-Jin WJ

Publication Date: 2020

Variant appearance in text: BMPR2: 1471C>T; Arg491Trp

PubMed Link: 32966279

Variant Present in the following documents:

• Main text
• pone.0238698.pdf

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Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: BMPR2: R491W

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

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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: R491W

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Structural consequences of BMPR2 kinase domain mutations causing pulmonary arterial hypertension.

Scientific Reports

Chaikuad, Apirat A; Thangaratnarajah, Chancievan C; von Delft, Frank F; Bullock, Alex N AN

Publication Date: 2019-12-04

Variant appearance in text: BMPR2: R491W

PubMed Link: 31797984

Variant Present in the following documents:

• Main text
• 41598_2019_Article_54830.pdf

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Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.

Molecular Genetics & Genomic Medicine

Abbasi, Yeganeh Y; Jabbari, Javad J; Jabbari, Reza R; Glinge, Charlotte C; Izadyar, Seyed Bahador SB; Spiekerkoetter, Edda E; Zamanian, Roham T RT; Carlsen, Jørn J; Tfelt-Hansen, Jacob J

Publication Date: 2018-09

Variant appearance in text: BMPR2: R491W

PubMed Link: 30084161

Variant Present in the following documents:

• Main text
• MGG3-6-835.pdf

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Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.

Bmc Medical Genetics

Abou Hassan, Ossama K OK; Haidar, Wiam W; Nemer, Georges G; Skouri, Hadi H; Haddad, Fadi F; BouAkl, Imad I

Publication Date: 2018-05-30

Variant appearance in text: BMPR2: R491W

PubMed Link: 29843651

Variant Present in the following documents:

• Main text

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Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients.

Respiratory Research

Yang, Hang H; Zeng, Qixian Q; Ma, Yanyun Y; Liu, Bingyang B; Chen, Qianlong Q; Li, Wenke W; Xiong, Changming C; Zhou, Zhou Z

Publication Date: 2018-05-09

Variant appearance in text: BMPR2: 1471C>T; Arg491Trp

PubMed Link: 29743074

Variant Present in the following documents:

• Main text
• 12931_2018_Article_789.pdf

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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: 1471C>T; Arg491Trp

PubMed Link: 29650961

Variant Present in the following documents:

• 41467_2018_3672_MOESM1_ESM.xlsx, sheet 1

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Codependence of Bone Morphogenetic Protein Receptor 2 and Transforming Growth Factor-β in Elastic Fiber Assembly and Its Perturbation in Pulmonary Arterial Hypertension.

Arteriosclerosis, Thrombosis, And Vascular Biology

Tojais, Nancy F NF; Cao, Aiqin A; Lai, Ying-Ju YJ; Wang, Lingli L; Chen, Pin-I PI; Alcazar, Miguel A Alejandre MAA; de Jesus Perez, Vinicio A VA; Hopper, Rachel K RK; Rhodes, Christopher J CJ; Bill, Matthew A MA; Sakai, Lynn Y LY; Rabinovitch, Marlene M

Publication Date: 2017-08

Variant appearance in text: BMPR2: 1471C>T; R491W

PubMed Link: 28619995

Variant Present in the following documents:

• Main text

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BMPR2: 1471C>T; Arg491Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.

Bmc Pulmonary Medicine

Higasa, Koichiro K; Ogawa, Aiko A; Terao, Chikashi C; Shimizu, Masakazu M; Kosugi, Shinji S; Yamada, Ryo R; Date, Hiroshi H; Matsubara, Hiromi H; Matsuda, Fumihiko F

Publication Date: 2017-04-07

Variant appearance in text: BMPR2: 1471C>T; Arg491Trp; rs137852746

PubMed Link: 28388887

Variant Present in the following documents:

• Main text
• 12890_2017_Article_400.pdf

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Induced Pluripotent Stem Cell Model of Pulmonary Arterial Hypertension Reveals Novel Gene Expression and Patient Specificity.

American Journal Of Respiratory And Critical Care Medicine

Sa, Silin S; Gu, Mingxia M; Chappell, James J; Shao, Ning-Yi NY; Ameen, Mohamed M; Elliott, Kathryn A T KA; Li, Dan D; Grubert, Fabian F; Li, Caiyun G CG; Taylor, Shalina S; Cao, Aiqin A; Ma, Yu Y; Fong, Ryan R; Nguyen, Long L; Wu, Joseph C JC; Snyder, Michael P MP; Rabinovitch, Marlene M

Publication Date: 2017-04-01

Variant appearance in text: BMPR2: 1471C>T; R491W

PubMed Link: 27779452

Variant Present in the following documents:

• Main text

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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: 1471C>T; R491W

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: PPH1: R491W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: 1471C>T

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: BMPR2: R491W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Elafin Reverses Pulmonary Hypertension via Caveolin-1-Dependent Bone Morphogenetic Protein Signaling.

American Journal Of Respiratory And Critical Care Medicine

Nickel, Nils P NP; Spiekerkoetter, Edda E; Gu, Mingxia M; Li, Caiyun G CG; Li, Hai H; Kaschwich, Mark M; Diebold, Isabel I; Hennigs, Jan K JK; Kim, Ki-Yoon KY; Miyagawa, Kazuya K; Wang, Lingli L; Cao, Aiqin A; Sa, Silin S; Jiang, Xinguo X; Stockstill, Raymond W RW; Nicolls, Mark R MR; Zamanian, Roham T RT; Bland, Richard D RD; Rabinovitch, Marlene M

Publication Date: 2015-06-01

Variant appearance in text: BMPR2: 1471C>T

PubMed Link: 25853696

Variant Present in the following documents:

• Main text

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: BMPR2: R491W

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

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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: 1471C>T; R491W

PubMed Link: 21801371

Variant Present in the following documents:

• Main text
• 1465-9921-12-99.pdf

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Bone morphogenetic protein receptor type II C-terminus interacts with c-Src: implication for a role in pulmonary arterial hypertension.

American Journal Of Respiratory Cell And Molecular Biology

Wong, Wai K P WK; Knowles, James A JA; Morse, Jane H JH

Publication Date: 2005-11

Variant appearance in text: BMPR2: R491W

PubMed Link: 16002577

Variant Present in the following documents:

• Main text

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Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.

American Journal Of Human Genetics

Deng, Z Z; Morse, J H JH; Slager, S L SL; Cuervo, N N; Moore, K J KJ; Venetos, G G; Kalachikov, S S; Cayanis, E E; Fischer, S G SG; Barst, R J RJ; Hodge, S E SE; Knowles, J A JA

Publication Date: 2000-09

Variant appearance in text: BMPR2: R491W

PubMed Link: 10903931

Variant Present in the following documents:

• Main text

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