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Mohammad K. Eldomery | Researchclopedia

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Mohammad K. Eldomery

St. Jude Children's Research Hospital ORCID

58

Works

2,083

Citations

19

h-index

21

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders

Affiliations

University of Iowa2020–2020

St. Jude Children's Research Hospital2024–2026

Riyadh Armed Forces Hospital2020–2020

Baylor College of Medicine2015–2022

Yale University2020–2020

Top Works

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen,Hanne Sørmo Sorte,et al.

2016273 citations

Acute Myeloid Leukemia Research

Genetic factors in colorectal cancer

Lessons learned from additional research analyses of unsolved clinical exome cases

Mohammad K. Eldomery,Zeynep Coban‐Akdemir,et al.

2017232 citations

Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Tamar Harel,Wan Hee Yoon,et al.

2016187 citations

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Seema R. Lalani,Pengfei Liu,et al.

2016141 citations

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

Tomasz Gambin,Zeynep Coban‐Akdemir,et al.

2016126 citations

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

Davor Lessel,Claudia Schob,et al.

2017107 citations

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Xi Luo,Jill A. Rosenfeld,et al.

201789 citations

Phenotypic expansion in <i> <scp>DDX</scp> 3X </i> – a common cause of intellectual disability in females

Xia Wang,Jennifer E. Posey,et al.

201889 citations

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

Hanyin Cheng,Avinash V. Dharmadhikari,et al.

201887 citations