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Author Details

Hisham Megahed
Clinical Genetics Department, National Research Centre
2007
16
10
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
35684946Biallelic loss of EMC10 leads to mild to severe intellectual disability.Ann Clin Transl Neurol2022
35430675Serum homocysteine, lipid profile and BMI as atherosclerotic risk factors in children with numerical chromosomal aberrations.World J Pediatr2022
35597526The potential impact of CYP2D6 (*2/*4/*10) gene variants among Egyptian epileptic children: A preliminary study.Gene2022
33217222Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literature.Mol Genet Genomic Med2021
33763700Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.Blood2021
33939082Association of GSTP1 p.Ile105Val (rs1695, c.313Aâ¿¿>â¿¿G) Variant with the Risk of Breast Carcinoma among Egyptian Women.Biochem Genet2021
30013181Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.Nat Genet2018
27146152Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.Orphanet J Rare Dis2016
24482476Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.Science2014
24330130Homocysteine and other cardiovascular risk factors in patients with lichen planus.J Eur Acad Dermatol Venereol2014
23291781DNA methylation profiling of medulloblastoma allows robust subclassification and improved outcome prediction using formalin-fixed biopsies.Acta Neuropathol2013
22139329MYC family amplification and clinical risk-factors interact to predict an extremely poor prognosis in childhood medulloblastoma.Acta Neuropathol2012
20921458Definition of disease-risk stratification groups in childhood medulloblastoma using combined clinical, pathologic, and molecular variables.J Clin Oncol2011
21325292Rapid diagnosis of medulloblastoma molecular subgroups.Clin Cancer Res2011
21357788TP53 mutations in favorable-risk Wnt/Wingless-subtype medulloblastomas.J Clin Oncol2011
17685006Metabolic encephalopathy in Egyptian children.Bratisl Lek Listy2007
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Jennifer L Silhavy
University of California
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Joseph G Gleeson
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ICM DNA and Cell Bank CNRS UMR7225, INSERM U1127, Sorbonne University
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Ali Benomar
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Release 1.2