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Hasnaa M. Elbendary

Observed names: Elbendary, Hasnaa M, Elbendary, Hasnaa M., H.M. Elbendary, Hasnaa Elbendary, Hasnaa M Elbendary, Hasnaa M. Elbendary (8839706)
Observed institution: National Research Centre
ORCID: 0000-0002-4127-7896
Observed ORCID: 0000-0002-4127-7896
OpenAlex ID: A5047385275
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
2018 · Nuria C. Bramswig, Aida M. Bertoli-Avella, et al. · Human Genetics · 61
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
2021 · Sukhleen Kour, Deepa S. Rajan, et al. · Nature Communications · 53
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Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation
2017 · M.S. Zaki, M.Y. Issa, et al. · Clinical Genetics · 46
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
2022 · Ken Saida, Reza Maroofian, et al. · Genetics in Medicine · 36
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Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome
2020 · Sandra Donkervoort, Payam Mohassel, et al. · American Journal of Medical Genetics Part A · 29
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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 · 25
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders
2024 · Jai Sidpra, Sniya Sudhakar, et al. · Brain · 17
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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 · 16
Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families
2020 · Mahmoud Y. Issa, Zinayida Chechlacz, et al. · BMC Medical Genomics · 13
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Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations
2023 · Rasha M. Elhossini, Hasnaa M. Elbendary, et al. · Molecular Genetics and Genomics · 12
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RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability
2020 · Marcello Scala, Majid Mojarrad, et al. · Brain · 11
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El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype
2022 · Mohammed Almannai, Dana Marafi, et al. · Clinical Genetics · 10
In-depth characterization of neuroradiological findings in a large sample of individuals with autism spectrum disorder and controls
2022 · Sara Ambrosino, Hasnaa Elbendary, et al. · NeuroImage Clinical · 10
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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
2023 · Vincenzo Salpietro, Reza Maroofian, et al. · The American Journal of Human Genetics · 9
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Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy
2020 · Ahmed K Saad, Dana Marafi, et al. · Brain · 9
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Phenotypic continuum of NFU1 ‐related disorders
2022 · Rauan Kaiyrzhanov, Maha S. Zaki, et al. · Annals of Clinical and Translational Neurology · 8
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Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS ‐related rare disease traits
2023 · Hasnaa M. Elbendary, Dana Marafi, et al. · Clinical Genetics · 7
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Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission
2023 · Angel Aledo-Serrano, Giulia Battaglia, et al. · Seizure · 7
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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 · 6
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Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking
2023 · Ruizhi Duan, Dana Marafi, et al. · Journal of Inherited Metabolic Disease · 6
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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
2024 · Elisa Cali, Tania Quirin, et al. · Genetics in Medicine · 5
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A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder
2020 · Maha S. Zaki, Mahmoud Y. Issa, et al. · Neurological Sciences · 5
Mutation spectrum in the gene encoding methyl-CpG-binding protein 2 in Egyptian patients with Rett syndrome
2019 · Wessam E. Sharaf-Eldin, Hala N. Soliman, et al. · Meta Gene · 4
Clinical and molecular spectrum of a large Egyptian cohort with ALS2 ‐related disorders of infantile‐onset of clinical continuum IAHSP / JPLS
2023 · Maha S. Zaki, Wessam E. Sharaf‐Eldin, et al. · Clinical Genetics · 3
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First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease
2023 · Nesma M. Elaraby, Eman Reda Galal, et al. · Journal of Molecular Neuroscience · 2
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Works count: 44
Citation count: 414
H-index: 11
I10-index: 13
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