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Author Details

Majdi Kara
University of Tripoli, Tripoli Children's Hospital
1998
13
11
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
33200442Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.J Inherit Metab Dis2021
33589599Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.Nat Commun2021
32788587Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.Nat Commun2020
32738225De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.Am J Hum Genet2020
29239743Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.Pediatr Neurol2018
30013181Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.Nat Genet2018
27912058Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.Cell2016
26005868Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.Nat Genet2015
24482476Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.Science2014
24360807Mutations in CSPP1 lead to classical Joubert syndrome.Am J Hum Genet2014
22956686Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.Science2012
21837804Clinical features and molecular epidemiology of rotavirus and norovirus infections in Libyan children.J Med Virol2011
27704132Vogt-Koyanagi-Harada Syndrome as a case of aseptic meningitis in Children.Saudi Med J1998
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Collaborators

Joseph G Gleeson
University of California
Co-authored papers 9
Rasim O Rosti
University of Virginia
Co-authored papers 7
Tawfeg Ben-Omran
Hamad Medical Corporation.
Co-authored papers 7
Murat Gunel
Yale School of Medicine
Co-authored papers 5
Eric Scott
Rady Children's Institute for Genomic Medicine, University of California
Co-authored papers 5
Jennifer L Silhavy
University of California
Co-authored papers 4
Jana Schroth
University of California
Co-authored papers 4
Stacey Gabriel
Broad Institute of MIT and Harvard
Co-authored papers 4
Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 4
Ahmet Okay Caglayan
Yale School of Medicine
Co-authored papers 3
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 3
Gaia Novarino
Institute of Science and Technology Austria (ISTA)
Co-authored papers 3
Basak Rosti
Howard Hughes Medical Institute, The Rockefeller University
Co-authored papers 3
Naiara Akizu
University of Pennsylvania
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Kaya Bilguvar
Acibadem Mehmet Ali Aydinlar University
Co-authored papers 3
H??lya Kayserili
Istanbul University
Co-authored papers 3
Faezeh Mojahedi
Blood Borne Infections Research Center, Academic Center for Education
Co-authored papers 2
Keith K Vaux
university of california san diego Health Physician Network
Co-authored papers 2
Anide Johansen
Howard Hughes Medical Institute, University of California
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Lobna Mansour
Cairo University Children Hospital
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Hisham Megahed
Clinical Genetics Department, National Research Centre
Co-authored papers 2
Brett Copeland
University of California
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B??lent Kara
Kocaeli University Faculty of Medicine
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Ali G Fenstermaker
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Ariana Kariminejad
Clinical Genetics Deaprtment
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Mostafa Abdellateef
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