Carrie Welch
0000-0003-3521-4458
5 papers found
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Defining the clinical validity of genes reported to cause pulmonary arterial hypertension
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality
First genotype-phenotype study in TBX4 syndrome: gain-of-function mutations causative for lung disease
Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension
Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate FBLN2, PDGFD and rare de novo variants in PAH
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