Bayoumi A. Emam

Most-cited papers

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

   R. Shaheen, G. Abdel-Salam, Michael P Guy, Rana Alomar +6 more

   2015Genome Biology168 citations Open access

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2. Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations

   M. Abdel-Hamid, G. Abdel-Salam, M. Issa, Bayoumi A. Emam +1 more

   2017Journal of Human Genetics20 citations

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3. Long‐term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18‐year‐old male with g.55G>A homozygous mutation in RNU4ATAC

   G. Abdel-Salam, Bayoumi A. Emam, Y. Khalil, M. Abdel-Hamid

   2016American Journal of Medical Genetics. Part A9 citations

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

   R. Shaheen, G. Abdel-Salam, Michael P Guy, Rana Alomar +6 more

   2015Genome Biology6 citations Open access

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5. A Rare Case of a Child with X-linked Opitz G/BBB Syndrome Caused by a Novel Partial Microduplication in the MID1 gene: Implications for Genetic Diagnosis.

   M. Alsulami, H. Elghezal, Saeed Alghamdi, N. Almobadel +8 more

   2025Journal of Biochemical and Clinical Genetics0 citations Open access

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6. Screening for TSEN54 Variants in Egyptian Patients with Pontocerebellar Malformations

   Bayoumi A. Emam, M. Abdel-Hamid, Maha M. Eid, Marian Y. Girgis +5 more

   2024Molecular Syndromology0 citations

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