Publications:

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Molecular and Genetic Profiling for Precision Medicines in Pulmonary Arterial Hypertension.

Cells

Fazal, Shahood S; Bisserier, Malik M; Hadri, Lahouaria L

Publication Date: 2021-03-13

Variant appearance in text: BMPR2: C123S

PubMed Link: 33805595

Variant Present in the following documents:

• Main text
• cells-10-00638.pdf

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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: C123S

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: C123S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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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: C123S

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: BMPR-II: C123S

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: C123S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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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: BMPR2: C123S

PubMed Link: 11115378

Variant Present in the following documents:

• Main text

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