Author
Utrecht UniversityORCID 0000-0003-0312-5354Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 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.
Jose G. Gomez‐Arroyo, Arjan C. Houweling, Harm Jan Bogaard…·William C. Nichols
The paper identifies rare FOXF1 missense variants in PAH patients, shows dysregulated FOXF1 expression in PAH lungs, and identifies downstream targets linked to PAH pathogenesis.
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.