Nelly Abdelfatah

Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling

Andreas Brodehl, Darrell D. Belke, Lauren Garnett et al. · PLoS ONE · 2017 · 66 citations · Full text

Characterization of a Unique Form of Arrhythmic Cardiomyopathy Caused by Recessive Mutation in LEMD2

Nelly Abdelfatah, Ruping Chen, Henry J. Duff et al. · JACC Basic to Translational Science · 2019 · 46 citations · Full text

A Novel Deletion in<i>SMPX</i>Causes a Rare form of X-Linked Progressive Hearing Loss in Two Families Due to a Founder Effect

Nelly Abdelfatah, Nancy D. Merner, Jim Houston et al. · Human Mutation · 2012 · 33 citations

Novel Deletion, Genetics, Neurotology +16

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

Justin A. Pater, Cindy Penney, Darren D. O’Rielly et al. · Human Genetics · 2022 · 20 citations · Full text

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect

Justin A. Pater, Tammy Benteau, Anne Griffin et al. · Human Genetics · 2016 · 16 citations · Full text

Genetic Testing, Genetics, Pathology +19