Author
Utrecht UniversityORCID 0000-0001-6373-5416Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Christina A. Eichstaedt, Gabriel Maldonado-Velez, Rajiv D. Machado…·Micheala A. Aldred
The paper develops adapted ACMG/AMP guidelines for classifying BMPR2 variants in PAH, resolving 66% of uncertain variants as benign or likely benign.
Kathryn A. McGurk, Xiaolei Zhang, Pantazis I. Theotokis…·James S. Ware
This paper estimates the penetrance of rare variants in cardiomyopathy genes using cross-sectional data from genetic testing, finding substantial penetrance for dominant cardiomyopathies and variant-specific differences.
Carrie L. Welch, Micheala A. Aldred, Srimmitha Balachandar…·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.
Carlos G. Vanoye, Reshma R. Desai, Katarina L. Fabre…·Alfred L. George
This study evaluates KCNQ1 variants using high-throughput electrophysiology, classifying 70% of unstudied variants and showing allele frequency is not a reliable predictor of function.