| Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) NC Bramswig, AM Bertoli-Avella, B Albrecht, AI Al Aqeel, A Alhashem, ... Human genetics 137, 753-768, 2018 | 51 | 2018 |
| Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation MS Zaki, MY Issa, HM Elbendary, H El‐Karaksy, H Hosny, C Ghobrial, ... Clinical genetics 93 (4), 905-912, 2018 | 31 | 2018 |
| Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder S Kour, DS Rajan, TR Fortuna, EN Anderson, C Ward, Y Lee, S Lee, ... Nature communications 12 (1), 2558, 2021 | 28 | 2021 |
| PGAP3‐related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation MS Abdel‐Hamid, MY Issa, GA Otaify, SF Abdel‐Ghafar, HM Elbendary, ... Clinical genetics 93 (1), 84-91, 2018 | 22 | 2018 |
| Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome S Donkervoort, P Mohassel, L Laugwitz, MS Zaki, EJ Kamsteeg, ... American Journal of Medical Genetics Part A 182 (10), 2272-2283, 2020 | 21 | 2020 |
| Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals K Saida, R Maroofian, T Sengoku, T Mitani, AT Pagnamenta, D Marafi, ... Genetics in Medicine 25 (1), 90-102, 2023 | 17 | 2023 |
| In-depth characterization of neuroradiological findings in a large sample of individuals with autism spectrum disorder and controls S Ambrosino, H Elbendary, M Lequin, D Rijkelijkhuizen, T Banaschewski, ... NeuroImage: Clinical 35, 103118, 2022 | 10 | 2022 |
| Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate … M Scala, SB Wortmann, N Kaya, MD Stellingwerff, A Pistorio, E Glamuzina, ... Human mutation 43 (3), 403-419, 2022 | 9 | 2022 |
| Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy AK Saad, D Marafi, T Mitani, A Jolly, H Du, HM Elbendary, SN Jhangiani, ... Brain 143 (10), e83-e83, 2020 | 8 | 2020 |
| Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects MS Abdel-Hamid, MY Issa, HM Elbendary, SF Abdel-Ghafar, K Rafaat, ... Journal of Human Genetics 64 (9), 859-865, 2019 | 8 | 2019 |
| El‐Hattab‐Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype M Almannai, D Marafi, GMH Abdel‐Salam, MS Zaki, R Duan, D Calame, ... Clinical genetics 101 (5-6), 530-540, 2022 | 7 | 2022 |
| RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability M Scala, M Mojarrad, S Riazuddin, KW Brigatti, Z Ammous, JS Cohen, ... Brain 143 (4), e31-e31, 2020 | 6 | 2020 |
| Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families MY Issa, Z Chechlacz, V Stanley, RD George, J McEvoy-Venneri, ... BMC medical genomics 13, 1-10, 2020 | 4 | 2020 |
| Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations RM Elhossini, HM Elbendary, K Rafat, RM Ghorab, MS Abdel-Hamid Molecular Genetics and Genomics 298 (3), 709-720, 2023 | 3 | 2023 |
| Taking action on climate change: Testimonials and position statement from the International League Against Epilepsy Climate Change Commission A Aledo-Serrano, G Battaglia, S Blenkinsop, N Delanty, HM Elbendary, ... Seizure 106, 68-75, 2023 | 3 | 2023 |
| Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking R Duan, D Marafi, ZJ Xia, BG Ng, R Maroofian, FT Sumya, AK Saad, H Du, ... Journal of inherited metabolic disease 46 (6), 1195-1205, 2023 | 1 | 2023 |
| Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits HM Elbendary, D Marafi, AK Saad, R Elhossini, R Duan, K Rafat, ... Clinical Genetics 104 (3), 344-349, 2023 | 1 | 2023 |
| Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS MS Zaki, WE Sharaf‐Eldin, K Rafat, HM Elbendary, M Kamel, N Elkhateeb, ... Clinical Genetics 104 (2), 238-244, 2023 | 1 | 2023 |
| Phenotypic continuum of NFU1‐related disorders R Kaiyrzhanov, MS Zaki, T Lau, S Sen, R Azizimalamiri, M Zamani, ... Annals of Clinical and Translational Neurology 9 (12), 2025-2035, 2022 | 1 | 2022 |
| A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder MS Zaki, MY Issa, MM Thomas, HM Elbendary, K Rafat, NM Al Menabawy, ... Neurological Sciences 42, 2737-2745, 2021 | 1 | 2021 |
