Concepedia

Author

Nelly Abdelfatah

Memorial University of Newfoundland

Also Known As

Nelly Abdelfatah, Nelly Raafat Abdelfatah

17

Publications

242

Citations

9

H-Index

19

Concepts

All Affiliations

Memorial University of NewfoundlandWestern UniversityUniversity of CalgaryHospital for Sick ChildrenUniversity of Manitoba
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About

Nelly Abdelfatah is an author at Memorial University of Newfoundland specializing in medicine, genetics, and genomics.

Top Concepts

#ConceptH-IndexPublicationsCitations

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Medicine

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Arts

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Natural Sciences

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Biochemistry

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Molecular Biology

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Nelly Abdelfatah

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9

Publications

233

Citations

9

H-Index

YearCitations

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

Andreas Brodehl, Darrell D. Belke, Lauren Garnett,

PLoS ONE

2017

66

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

Nelly Abdelfatah, Ruping Chen, Henry J. Duff,

JACC Basic to Translational Science

2019

46

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,

Human Mutation

2012

33

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,

Human Genetics

2022

20

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,

Human Genetics

2016

16

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL

Nelly Abdelfatah, David A. McComiskey, Lance P. Doucette,

European Journal of Human Genetics

2013

15

A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene

Nelly Abdelfatah, Ahmed Mostafa, Curtis R. French,

Human Genetics

2021

14

X-Linked Hearing Loss: Two Gene Mutation Examples Provide Generalizable Implications for Clinical Care

Susan G. Stanton, Anne Griffin, Tracy Stockley,

American Journal of Audiology

2014

13

The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate

Jane S. Green, Darren D. O’Rielly, Justin A. Pater,

European Journal of Human Genetics

2020

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