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Sherif F. Abdel‐Ghafar

Observed names: Abdel-Ghafar, Sherif F, S.F. Abdel‐Ghafar, Sherif F Abdel-Ghafar, Sherif F. Abdel Ghafar, Sherif F. Abdel-Ghafar
ORCID: 0000-0001-5826-084X
Observed ORCID: 0000-0001-5826-084X
OpenAlex ID: A5000119036
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly
2020 · Guoliang Chai, Alice Webb, et al. · Neuron · 51
PGAP3 ‐related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation
2017 · M.S. Abdel‐Hamid, M.Y. Issa, et al. · Clinical Genetics · 26
Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights
2020 · Mohamed S. Abdel‐Hamid, Sherif F. Abdel‐Ghafar, et al. · Clinical Genetics · 24
Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects
2019 · Mohamed S. Abdel-Hamid, Mahmoud Y. Issa, et al. · Journal of Human Genetics · 18
Bruck syndrome in 13 new patients: Identification of five novel FKBP10 and PLOD2 variants and further expansion of the phenotypic spectrum
2022 · Ghada A. Otaify, Mohamed S. Abdel‐Hamid, et al. · American Journal of Medical Genetics Part A · 13
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation
2020 · Ghada M. H. Abdel‐Salam, Inas S. M. Sayed, et al. · American Journal of Medical Genetics Part A · 13
Aicardi-Goutières syndrome: unusual neuro-radiological manifestations
2017 · Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid, et al. · Metabolic Brain Disease · 12
Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature
2023 · Inas H. Mazen, Mona A. El-Gammal, et al. · Molecular Genetics and Genomics · 11
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation
2025 · Zain Dardas, Laura Harrold, et al. · The American Journal of Human Genetics · 10
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The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children
2024 · Nour Elkhateeb, Mahmoud Y. Issa, et al. · Clinical Genetics · 8
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A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C
2023 · Maha S. Zaki, Sherif F. Abdel-Ghafar, et al. · Journal of Human Genetics · 8
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Delineating the phenotype of PNPLA8‐related mitochondriopathies
2023 · Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, et al. · Clinical Genetics · 8
Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification
2020 · Sara H. El‐Dessouky, Mohamed S. Abdel‐Hamid, et al. · Prenatal Diagnosis · 8
Biallelic variants in GTF3C3 encoding a subunit of the TFIIIC2 complex are associated with neurodevelopmental phenotypes in humans and zebrafish
2024 · Mohamed S Abdel-Hamid, Adeline Paimboeuf, et al. · Brain Communications · 6
CHST3 ‐related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum
2023 · Ghada A. Otaify, Rasha M. Elhossini, et al. · American Journal of Medical Genetics Part A · 6
Osteoporosis-pseudoglioma syndrome in four new patients: identification of two novel LRP5 variants and insights on patients’ management using bisphosphonates therapy
2022 · Mohamed S. Abdel-Hamid, Rasha M. Elhossini, et al. · Osteoporosis International · 6
Novel homozygous ESAM variants in two families with perinatal strokes showing variable neuroradiologic and clinical findings
2024 · Ghada M. H. Abdel-Salam, Asmaa Esmail, et al. · Journal of Human Genetics · 4
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An atypical expression of core α-Dystroglycan and Laminin-α2 in skin fibroblasts of patients with congenital muscular dystrophies
2023 · Sahar Sabry, Mahmoud Y Issa, et al. · Molecular Biology Reports · 4
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Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia
2025 · Mohamed S. Abdel-Hamid, Rasha M. Elhossini, et al. · Journal of Human Genetics · 3
Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations
2021 · Mohamed S. Abdel-Hamid, Sahar Sabry, et al. · Neurogenetics · 3
ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant
2025 · Karima Rafat, Asmaa F. Abdel-Aleem, et al. · Scientific Reports · 2
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Refining the phenotypic spectrum of CCDC88A ‐related PEHO ‐like syndrome
2023 · Mahmoud Y. Issa, Mona A. Hafez, et al. · American Journal of Medical Genetics Part A · 2
Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB ‐Related Neurodevelopmental Disorders
2025 · Mohamed S. Abdel‐Hamid, Sherif F. Abdel‐Ghafar, et al. · Clinical Genetics · 1
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Clinical and molecular spectrum of congenital disorders of glycosylation in 80 Egyptian patients
2026 · Mohamed S. Abdel-Hamid, Sherif F. Abdel-Ghafar, et al. · Human Genetics
Clinical and molecular characterization of an Egyptian cohort with autosomal recessive hypophosphatasia
2026 · Dina El Dessouki, Rasha M. Elhossini, et al. · Scientific Reports
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Works count: 32
Citation count: 247
H-index: 9
I10-index: 9
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