Publications:

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A rare homozygous missense GDF2 (BMP9) mutation causing PAH in siblings: Does BMP10 status contribute?

American Journal Of Medical Genetics. Part A

Upton, Paul P; Richards, Susan S; Bates, Angela A; Niederhoffer, Karen Y KY; Morrell, Nicholas W NW; Christian, Susan S

Publication Date: 2022-10-19

Variant appearance in text: BMP9: R110W

PubMed Link: 36259599

Variant Present in the following documents:

• Main text
• AJMG-191-228.pdf

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Expanding the Evidence of a Semi-Dominant Inheritance in GDF2 Associated with Pulmonary Arterial Hypertension.

Cells

Gallego, Natalia N; Cruz-Utrilla, Alejandro A; Guillén, Inmaculada I; Bonora, Amparo Moya AM; Ochoa, Nuria N; Arias, Pedro P; Lapunzina, Pablo P; Escribano-Subias, Pilar P; Nevado, Julián J; Tenorio-Castaño, Jair J

Publication Date: 2021-11-15

Variant appearance in text: GDF2: 328C>T

PubMed Link: 34831401

Variant Present in the following documents:

• Main text
• cells-10-03178.pdf

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Endoplasmic Reticulum Associated Protein Degradation (ERAD) in the Pathology of Diseases Related to TGFβ Signaling Pathway: Future Therapeutic Perspectives.

Frontiers In Molecular Biosciences

Gariballa, Nesrin N; Ali, Bassam R BR

Publication Date: 2020

Variant appearance in text: BMP9: 328C>T

PubMed Link: 33195419

Variant Present in the following documents:

• Main text

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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: GDF2: 328C>T

PubMed Link: 33066286

Variant Present in the following documents:

• Main text
• genes-11-01191.pdf

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: GDF2: R110W

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

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Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension.

American Journal Of Respiratory And Critical Care Medicine

Hodgson, Joshua J; Swietlik, Emilia M EM; Salmon, Richard M RM; Hadinnapola, Charaka C; Nikolic, Ivana I; Wharton, John J; Guo, Jingxu J; Liley, James J; Haimel, Matthias M; Bleda, Marta M; Southgate, Laura L; 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; 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; Lawrie, Allan A; MacKenzie Ross, Robert V RV; Moledina, Shahin S; Montani, David D; Olschewski, Andrea A; Olschewski, Horst H; Ouwehand, Willem H WH; Peacock, Andrew J AJ; Pepke-Zaba, Joanna J; Prokopenko, Inga I; Rhodes, Christopher J CJ; Scelsi, Laura L; Seeger, Werner W; Soubrier, Florent F; Suntharalingam, Jay J; Toshner, Mark R MR; Trembath, Richard C RC; Vonk Noordegraaf, Anton A; Wort, Stephen J SJ; Wilkins, Martin R MR; Yu, Paul B PB; Li, Wei W; Gräf, Stefan S; Upton, Paul D PD; Morrell, Nicholas W NW

Publication Date: 2020-03-01

Variant appearance in text: BMP9: 328C>T

PubMed Link: 31661308

Variant Present in the following documents:

• Main text

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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: GDF2: 328C>T; Arg110Trp

PubMed Link: 29650961

Variant Present in the following documents:

• Main text
• 41467_2018_3672_MOESM3_ESM.xlsx, sheet 1
• 41467_2018_Article_3672.pdf

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