Mohamed S. Abdel‐Hamid

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Gillian Rice, Gabriella Forte, Marcin Szynkiewicz et al. · The Lancet Neurology · 2013 · 438 citations

Life Sciences, Genetics, Molecular Genetics +16

Mutation in WDR4 impairs tRNA m7G46 methylation and causes a distinct form of microcephalic primordial dwarfism

Ranad Shaheen, Ghada M. H. Abdel‐Salam, Michael P. Guy et al. · Genome biology · 2015 · 199 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient

Inas Mazen, Mona El Gammal, Mohamed S. Abdel‐Hamid et al. · Molecular Genetics and Metabolism · 2009 · 117 citations

Life Sciences, Genetics, Molecular Genetics +13

Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity

Inas Mazen, Mona El Gammal, Mohamed S. Abdel‐Hamid et al. · Molecular Genetics and Metabolism · 2011 · 74 citations

Life Sciences, Genetics, Molecular Genetics +9