Mohammad K. Eldomery

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon et al. · Journal of Allergy and Clinical Immunology · 2016 · 269 citations · Full text

Primary Immunodeficiency, Mendelian Disorder, Autoimmune Disease +9

Lessons learned from additional research analyses of unsolved clinical exome cases

Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Tamar Harel et al. · Genome Medicine · 2017 · 230 citations · Full text

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

Tamar Harel, Wan Hee Yoon, Caterina Garone et al. · The American Journal of Human Genetics · 2016 · 186 citations · Full text

Distinct Neurological Syndromes, Neurodegenerative Diseases, Recurrent De Novo +10

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

Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld et al. · The American Journal of Human Genetics · 2016 · 139 citations · Full text

Bi-allelic Tango2 Mutations, Cardiac Muscle, Cardiomyopathy +9

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

Tomasz Gambin, Zeynep Coban‐Akdemir, Bo Yuan et al. · Nucleic Acids Research · 2016 · 126 citations · Full text

Hmz Deletion, Mendelian Disease Cohort, Genetics +20