Mohammad Eldomery

Mohammad Eldomery

St. Jude Children's Research Hospital - Memphis / United States
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4607940
person_outline Mohammad Eldomery's MOST POPULAR ARTICLES
1-) Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disordersA Stray-Pedersen, HS Sorte, P Samarakoon, T Gambin, IK Chinn, ...Journal of Allergy and Clinical Immunology 139 (1), 232-245, 20172272017
2-) Lessons learned from additional research analyses of unsolved clinical exome casesMK Eldomery, Z Coban-Akdemir, T Harel, JA Rosenfeld, T Gambin, ...Genome medicine 9 (1), 1-15, 20171912017
3-) Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromesT Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ...The American Journal of Human Genetics 99 (4), 831-845, 20161372016
4-) Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutationsSR Lalani, P Liu, JA Rosenfeld, LB Watkin, T Chiang, MS Leduc, W Zhu, ...The American Journal of Human Genetics 98 (2), 347-357, 20161322016
5-) Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohortT Gambin, ZC Akdemir, B Yuan, S Gu, T Chiang, C Carvalho, C Shaw, ...Nucleic acids research 45 (4), 1633-1648, 20171272017