Author
University of MichiganORCID 0000-0003-4473-6725Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Sophie Hespe, G. Powell, Laura Catto…·Jodie Ingles
The paper reclassifies genetic variants in HCM patients using a large registry, finding 10% of variants were reclassified, with most VUS unlikely to be causal.
Christian Cadisch, Victoria Nicole Parikh, Megan E. Grove…·Euan Angus Ashley
The paper integrates genomic and structural data to identify variant intolerance regions in cardiac sarcomere genes and links them to disease mechanisms in hypertrophic cardiomyopathy.
Andrea D. Thompson, Adam S. Helms, Anamika Kannan…·SHaRe investigators
The paper uses STRUM to predict subdomain stability in MYBPC3 variants, showing that variants causing misfolding are associated with higher adverse event rates in HCM patients.