Author
Mayo ClinicORCID 0000-0001-6068-5505Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Shruthi Mohan, Shannon M. McNulty, Courtney Thaxton…·Conrad Chris Weihl
The paper curates 31 genes associated with limb girdle muscular dystrophy (LGMD) using an expert panel and clinical validity framework, identifying 35 gene-disease relationships with varying levels of evidence.
Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya…·Stephen Francis Kingsmore
The paper analyzes VUS rates in genetic testing and finds lower rates in exome/genome sequencing compared to multi-gene panels, suggesting improvements in variant reporting practices.
Rebecca E. Schmitt, Douglas Y. Smith, Dong Seong Cho…·Jason D. Doles
The paper develops an iPSC-based model of GNE myopathy, revealing myogenic differentiation defects and implicating EIF2 signaling in disease mechanisms.