Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Whole-genome sequencing of patients with rare diseases in a national health system

(2020) Ernest Turro et al.   NATURE

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension

(2018) Stefan Gräf et al.   Nature Communications

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

(2018) Miriam S. Reuter et al.   GENETICS IN MEDICINE

The future of humans as model organisms

(2018) Garret FitzGerald et al.   SCIENCE

Endothelial cell FGF signaling is required for injury response but not for vascular homeostasis

(2014) Sunday S. Oladipupo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Diffusion capacity and BMPR2 mutations in pulmonary arterial hypertension

(2013) P. Trip et al.   EUROPEAN RESPIRATORY JOURNAL

A Novel Channelopathy in Pulmonary Arterial Hypertension

(2013) Lijiang Ma et al.   NEW ENGLAND JOURNAL OF MEDICINE

Pulmonary Arterial Hypertension in Patients Treated by Dasatinib

(2012) David Montani et al.   CIRCULATION

A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension

(2009) M Shintani et al.   JOURNAL OF MEDICAL GENETICS