Publications:

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: BMPR1B: F392L

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

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Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

European Journal Of Human Genetics : Ejhg

Racacho, Lemuel L; Byrnes, Ashley M AM; MacDonald, Heather H; Dranse, Helen J HJ; Nikkel, Sarah M SM; Allanson, Judith J; Rosser, Elisabeth E; Underhill, T Michael TM; Bulman, Dennis E DE

Publication Date: 2015-12

Variant appearance in text: BMPR1B: F392L

PubMed Link: 25758993

Variant Present in the following documents:

• Main text
• ejhg201538a.pdf

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The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension.

Scientifica

Machado, Rajiv D RD

Publication Date: 2012

Variant appearance in text: BMPR1B: F392L

PubMed Link: 24278664

Variant Present in the following documents:

• Main text
• SCIENTIFICA2012-106576.pdf

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