Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension
Carrie L. Welch, Micheala A. Aldred, Srimmitha Balachandar, Dennis Dooijes, Christina A. Eichstaedt, Stefan Gräf, Arjan C. Houweling, Rajiv D. Machado, Divya Pandya, Matina Prapa, Memoona Shaukat, Laura Southgate, Jair Antonio Tenorio, Emily P. Callejo, Kristina Day, , Dmitry A. Zateyshchikov
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.
Genetics in Medicine · Jul 5, 2023Peer-reviewedGenetic & Genomic Medicine