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Author Details

Laila Selim
Cairo University
2012
42
18
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36609685Organic acidurias in Egyptian children: The urge for high-risk screening.Pediatr Int2023
37596900Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.Am J Med Genet A2023
36032483Clinical and biochemical spectrum of metabolic cardiomyopathy in Egyptian children.Afr Health Sci2022
35614200An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.Eur J Hum Genet2022
35373813Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.Brain2022
35750291Clinical and genetic spectrum of mitochondrial DNA depletion syndromes: A report of 6 cases with 4 novel variants.Mitochondrion2022
36130657Creatine Deficiency Syndromes: Comparison of Screening Methods and Characterization of Four Novel Intronic Variants.Clin Chim Acta2022
32901138A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.Eur J Hum Genet2021
34378789A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion.Clin Genet2021
33123925A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder.Neurol Sci2021
31586943Recurrent homozygous damaging mutation in <i>TMX2</i>, encoding a protein disulfide isomerase, in four families with microlissencephaly.J Med Genet2020
33077719Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.Nat Commun2020
33150406KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Brain2020
32917887Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.Nat Commun2020
32875576ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.Clin Genet2020
32449975ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.Hum Mutat2020
30633340Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.Clin Genet2019
31668703Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.Am J Hum Genet2019
31455396Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.Orphanet J Rare Dis2019
29193034Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.Clin Genet2018
30619711Implementation of ketogenic diet in children with drug-resistant epilepsy in a medium resources setting: Egyptian experience.Epilepsy Behav Case Rep2018
29343805Biallelic variants in KIF14 cause intellectual disability with microcephaly.Eur J Hum Genet2018
28840556Mitochondrial Diseases as Model of Neurodegeneration.Adv Exp Med Biol2017
28379373Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.Brain2017
26790708Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.J Med Screen2016
29485812Mitochondrial Neurogastrointestinal Encephalopathy: Clinical, Biochemical and Molecular Study in Three Egyptian Patients.Genet Couns2016
26312827Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants.Genet Med2016
28050459Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses.J Clin Diagn Res2016
27231142Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.Nat Commun2016
27289259Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients.Eur J Paediatr Neurol2016
27130255PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.Ann Neurol2016
26830282Lysosomal Storage Disorders in Egyptian Children.Indian J Pediatr2016
25496456Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis.Clin Genet2015
26471939Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.BMC Neurol2015
25848753Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.Nat Genet2015
24177195Blood spot versus plasma chitotriosidase: a systematic clinical comparison.Clin Biochem2014
24731791Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: a 5 year report.Clin Biochem2014
24315536Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.Pediatr Neurol2014
24482476Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.Science2014
24101679PRRT2 mutations: exploring the phenotypical boundaries.J Neurol Neurosurg Psychiatry2014
22525402ÿ-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.Biochim Biophys Acta2012
22700954Exome sequencing can improve diagnosis and alter patient management.Sci Transl Med2012
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Collaborators

Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 14
University of California
Co-authored papers 12
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 7
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 5
Broad Institute of MIT and Harvard
Co-authored papers 4
Institute of Neurology, University College London (UCL)
Co-authored papers 4
Cairo University Children Hospital
Co-authored papers 4
Wah Medical College
Co-authored papers 4
Istanbul University
Co-authored papers 4
University of California
Co-authored papers 3
Hamad Medical Corporation.
Co-authored papers 3
University of California
Co-authored papers 3
Howard Hughes Medical Institute, University of California
Co-authored papers 3
University of Pennsylvania
Co-authored papers 3
Baylor College of Medicine
Co-authored papers 2
Baylor College of Medicine
Co-authored papers 2
university of california san diego Health Physician Network
Co-authored papers 2
Children's Hospital of Philadelphia
Co-authored papers 2
Rady Children's Institute for Genomic Medicine, University of California
Co-authored papers 2
Institute of Science and Technology Austria (ISTA)
Co-authored papers 2
The University of Jordan
Co-authored papers 2
University of Virginia
Co-authored papers 2
Yale School of Medicine
Co-authored papers 2
Cairo University Children's Hospital
Co-authored papers 2
Co-authored papers 2
Howard Hughes Medical Institute, The Rockefeller University
Co-authored papers 2
Baylor College of Medicine
Co-authored papers 2
Blood Borne Infections Research Center, Academic Center for Education
Co-authored papers 2
ICM DNA and Cell Bank CNRS UMR7225, INSERM U1127, Sorbonne University
Co-authored papers 1
Co-authored papers 1