Author
National Institutes of HealthORCID 0000-0001-5313-9514Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Pooja Varma, Mayra Saintilus, Morin Nessim…·Tokunbor A. Lawal
The paper identifies plasma microRNA signatures associated with RYR1-related myopathies, finding hsa-miR-4454 and hsa-miR-7975 are significantly overexpressed in patients.
Payam Mohassel, Jachinta E. Rooney, Yaqun Zou…·Carsten G. Bönnemann
This study identifies dysregulation of the TGFβ pathway in a mouse model of collagen VI-related disorders, linking ECM collagen VI deficiency to altered TGFβ bioavailability and muscle dysfunction.
Hong Joo Kim, Payam Mohassel, Sandra C. Donkervoort…·J. Paul Taylor
The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.
Pejman Mohammadi, Stephane E. Castel, Beryl B. Cummings…·Tuuli Lappalainen
ANEVA quantifies genetic regulatory variation using allelic expression data, improving transcriptome analysis and aiding in rare disease diagnosis.