Iman G. Mahmoud
Cairo University(EG)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Viral Infections and Vectors, Genomics and Rare Diseases
Most-Cited Works
- → Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders(2014)537 cited
- → Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction(2015)134 cited
- → Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants(2015)116 cited
- → Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study(2016)71 cited
- → Biallelic variants in KIF14 cause intellectual disability with microcephaly(2018)69 cited
- → Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients(2016)48 cited
- → Lysosomal Storage Disorders in Egyptian Children(2016)36 cited
- → The Emergence of Rift Valley Fever in Gedaref State Urges the Need for a Cross-Border One Health Strategy and Enforcement of the International Health Regulations(2021)35 cited
- → An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients(2022)29 cited
- → “Kankasha” in Kassala: A prospective observational cohort study of the clinical characteristics, epidemiology, genetic origin, and chronic impact of the 2018 epidemic of Chikungunya virus infection in Kassala, Sudan(2021)28 cited