Abdel-Hamid, M. S.

Top Publications

Top Publications Authored or Co-Authored by "Abdel-Hamid, M. S."

• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• A novel homozygous missense mutation of the leptin gene (N103K) in an obese Egyptian patient

  Molecular Genetics and Metabolism, Volume 97, No. 4, Year 2009, Citations 113
• Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia

  Neuropediatrics, Volume 45, No. 6, Year 2014, Citations 70
• Homozygosity for a novel missense mutation in the leptin receptor gene (P316T) in two Egyptian cousins with severe early onset obesity

  Molecular Genetics and Metabolism, Volume 102, No. 4, Year 2011, Citations 60
• Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: A case-control study

  The Lancet Neurology, Volume 12, No. 12, Year 2013, Citations 56