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Alice K. Abdel Aleem

Observed names: A. Abdel Aleem, A. Abdel-Aleem, A. K. Abdel-Aleem, A.K. Abdel Aleem, Abdel-Aziz Al-Byoumy Abdel-Aleem, AbdelAleem, Alice, Alice Abd El-Aleem, Alice Abd El‐Aleem, Alice Abdel Aleem, Alice Abdel-Aleem, Alice AbdelAleem, Alice Abdelaleem, Alice Abdel‐Aleem, AliceAbd El-Aleem, Alice K Abdel Aleem
Observed institutions: Cairo University, University of California, San Francisco, Cornell University, Medizinische Hochschule Hannover, University of California San Diego, Sidra Medical and Research Center, National Research Centre, Hamad bin Khalifa University, Weill Cornell Medical College in Qatar, Weill Cornell Medicine, Hamad Medical Corporation, Qatar Foundation
ORCID: 0000-0001-5137-3382
Observed ORCID: 0000-0001-5137-3382
OpenAlex ID: A5083045981
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
2009 · Stephanie L Bielas, Jennifer L Silhavy, et al. · Nature Genetics · 409
AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders
2006 · Enza Maria Valente, Francesco Brancati, et al. · Annals of Neurology · 143
Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia
2016 · Mahmoud Fawzi Elsaid, Nader Chalhoub, et al. · Annals of Neurology · 97
Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation
2007 · Maha Zaki, Marwa Shehab, et al. · American Journal of Medical Genetics Part A · 78
The molar tooth sign
2008 · M. S. Zaki, A. Abdel-Aleem, et al. · Neurology · 49
Tight junction protein occludin regulates progenitor Self-Renewal and survival in developing cortex
2019 · Raphael M Bendriem, Shawn Singh, et al. · eLife · 47
Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome
2010 · G. M. H. Abdel-Salam, G. Y. El-Kamah, et al. · Neuropediatrics · 39
Spinocerebellar ataxia type 2 (SCA2) in an Egyptian family presenting with polyphagia and marked CAG expansion in infancy
2008 · A. Abdel-Aleem, M. S. Zaki · Journal of Neurology · 39
Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients’ cohort from Qatar. A population specific founder variant
2020 · Alice Abdel Aleem, Mahmoud F. Elsaid, et al. · Neuromuscular Disorders · 38
Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns
2021 · Anouk M Olthof, Alisa K White, et al. · Nucleic Acids Research · 31
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NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup
2017 · Mahmoud F. Elsaid, Khalid Ibrahim, et al. · BMC Medical Genetics · 22
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Combination of Human Amniotic Fluid Derived-Mesenchymal Stem Cells and Nano-hydroxyapatite Scaffold Enhances Bone Regeneration
2019 · Eman E. A. Mohammed, Hanan Beherei, et al. · Open Access Macedonian Journal of Medical Sciences · 19
Osteogenic Differentiation Potential of Human Bone Marrow and Amniotic Fluid-Derived Mesenchymal Stem Cells in Vitro & in Vivo
2019 · Eman E. A. Mohammed, Mohamed El-Zawahry, et al. · Open Access Macedonian Journal of Medical Sciences · 18
Whole genome sequencing identifies a novel occludin mutation in microcephaly with band‐like calcification and polymicrogyria that extends the phenotypic spectrum
2014 · Mahmoud F. Elsaid, Hussein Kamel, et al. · American Journal of Medical Genetics Part A · 18
Clinical, Neuroimaging, and Genetic Characteristics of Megalencephalic Leukoencephalopathy With Subcortical Cysts in Egyptian Patients
2013 · Iman G. Mahmoud, Marwa Mahmoud, et al. · Pediatric Neurology · 17
Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection
1995 · AliceAbd El-Aleem, Ingolf B�hm, et al. · Human Genetics · 17
Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum
2010 · Alice Abdel Aleem, Nourhan Abu-Shahba, et al. · European Journal of Medical Genetics · 16
Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome
1999 · Alice Abd El-Aleem, Matthias Karck, et al. · Human Mutation · 16
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Evaluation of SNP calling using single and multiple-sample calling algorithms by validation against array base genotyping and Mendelian inheritance
2014 · Pankaj Kumar, Mashael Al-Shafai, et al. · BMC Research Notes · 15
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Non‐truncating LIFR mutation: causal for prominent congenital pain insensitivity phenotype with progressive vertebral destruction?
2015 · M.F. Elsaid, N. Chalhoub, et al. · Clinical Genetics · 14
Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort
2024 · Afif Ben-Mahmoud, Vijay Gupta, et al. · International Journal of Molecular Sciences · 13
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Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum
2023 · Doaa M. A. Ibrahim, Ola S. M. Ali, et al. · Orphanet Journal of Rare Diseases · 11
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Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
2025 · Hormos Salimi Dafsari, Celine Deneubourg, et al. · Annals of Neurology · 10
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Stability-indicating High Performance Liquid Chromatographic Determination of Fluconazole in the Presence of Its Oxidative Degradation Product - Kinetic and Stress Study
2013 · Hayam Mahmoud Lotfy, Abdel-Aziz Al-Byoumy Abdel-Aleem, et al. · Journal of Liquid Chromatography & Related Technologies · 10
Cohen syndrome and early-onset epileptic encephalopathy in male triplets: two disease-causing mutations in VPS13B and NAPB
2023 · Alice AbdelAleem, Naim Haddad, et al. · Neurogenetics · 8
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Works count: 40
Citation count: 1,205
H-index: 16
I10-index: 24
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