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| AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders EM Valente, F Brancati, JL Silhavy, M Castori, SE Marsh, G Barrano, ... Annals of neurology 59 (3), 527-534, 2006 | 155 | 2006 |
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| Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia MF Elsaid, N Chalhoub, T Ben‐Omran, P Kumar, H Kamel, K Ibrahim, ... Annals of neurology 81 (1), 68-78, 2017 | 86 | 2017 |
| The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families MS Zaki, A Abdel-Aleem, G Abdel-Salam, SE Marsh, JL Silhavy, ... Neurology 70 (7), 556-565, 2008 | 47 | 2008 |
| Chilblains as a diagnostic sign of aicardi-goutieres syndrome GMH Abdel-Salam, GY El-Kamah, GI Rice, M El-Darouti, H Gornall, ... Neuropediatrics 41 (01), 18-23, 2010 | 45 | 2010 |
| Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy A Abdel-Aleem, MS Zaki Journal of neurology 255, 413-419, 2008 | 41 | 2008 |
| Tight junction protein occludin regulates progenitor Self-Renewal and survival in developing cortex RM Bendriem, S Singh, AA Aleem, DA Antonetti, ME Ross Elife 8, e49376, 2019 | 35 | 2019 |
| Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients’ cohort from Qatar. A population specific founder variant AA Aleem, MF Elsaid, N Chalhoub, A Chakroun, KAS Mohamed, ... Neuromuscular Disorders 30 (6), 457-471, 2020 | 21 | 2020 |
| Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance P Kumar, M Al-Shafai, WA Al Muftah, N Chalhoub, MF Elsaid, AA Aleem, ... BMC Research Notes 7, 1-13, 2014 | 21 | 2014 |
| Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum MF Elsaid, H Kamel, N Chalhoub, NA Aziz, K Ibrahim, T Ben-Omran, ... Am J Med Genet A 164 (6), 1614-1617, 2014 | 21 | 2014 |
| Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns AM Olthof, AK White, S Mieruszynski, K Doggett, MF Lee, A Chakroun, ... Nucleic acids research 49 (6), 3524-3545, 2021 | 20 | 2021 |
| Combination of human amniotic fluid derived-mesenchymal stem cells and nano-hydroxyapatite scaffold enhances bone regeneration EEA Mohammed, HH Beherei, M El-Zawahry, ARH Farrag, N Kholoussi, ... Open Access Macedonian Journal of Medical Sciences 7 (17), 2739, 2019 | 19 | 2019 |
| NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup MF Elsaid, K Ibrahim, N Chalhoub, A Elsotouhy, N El Mudehki, ... BMC Medical Genetics 18, 1-7, 2017 | 18 | 2017 |
| Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum AA Aleem, N Abu-Shahba, D Swistun, J Silhavy, SL Bielas, S Sattar, ... European journal of medical genetics 54 (1), 82-85, 2011 | 18 | 2011 |
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| Systems biology analysis of human genomes points to key pathways conferring spina bifida risk V Aguiar-Pulido, P Wolujewicz, A Martinez-Fundichely, E Elhaik, ... Proceedings of the National Academy of Sciences 118 (51), e2106844118, 2021 | 16 | 2021 |
| Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients IG Mahmoud, M Mahmoud, M Refaat, M Girgis, N Waked, A El Badawy, ... Pediatric Neurology 50 (2), 140-148, 2014 | 15 | 2014 |
| Non‐truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction? MF Elsaid, N Chalhoub, H Kamel, M Ehlayel, N Ibrahim, A Elsaid, ... Clinical Genetics 89 (2), 210-216, 2016 | 12 | 2016 |
| Homozygous nonsense mutation in SCHIP1/IQCJ‐SCHIP1 causes a neurodevelopmental brain malformation syndrome MF Elsaid, N Chalhoub, T Ben‐Omran, H Kamel, M Al Mureikhi, K Ibrahim, ... Clinical Genetics 93 (2), 387-391, 2018 | 7 | 2018 |
