Emilia M. Swietlik

Unlocking the Potential of Genetic Research in Pulmonary Arterial Hypertension: Insights from Clinicians, Researchers and Study Team.

This study explores attitudes toward genetic research in PAH among clinicians, researchers, and study teams through interviews, highlighting challenges and opportunities for integrating genetic insights into clinical practice.

Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension

This paper classifies PAH-related genes based on evidence strength using a semi-quantitative scoring system, identifying twelve genes with definitive evidence and recommending their inclusion in genetic testing panels.

The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

The paper introduces the GA4GH Phenopacket schema to standardize the exchange of phenotypic data for precision medicine applications.

Rare variant analysis of 4,241 pulmonary arterial hypertension cases from an international consortium implicate FBLN2, PDGFD and rare de novo variants in PAH

This study identifies two new PAH risk genes, FBLN2 and PDGFD, through rare variant analysis of 4,241 PAH cases, with de novo variants contributing to ~15% of pediatric IPAH.

Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension

Identification of novel rare sequence variation underlying heritable pulmonary arterial hypertension

This study identifies novel rare genetic variants associated with heritable pulmonary arterial hypertension through whole genome sequencing of cases and controls.