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Author Details

Amira Masri
The University of Jordan
2005
69
18
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37236004Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas.Clin Neurol Neurosurg2023
37045462Autism services in low-resource areas.Neurosciences (Riyadh)2023
34781785Genetic evaluation of children with autism spectrum disorders in developing and low-resource areas.Autism2022
35611041Aseptic Meningitis and Its Viral Etiologies, Clinical Characteristics and Management Practices in Children: A Retrospective Hospital-Based Study From Jordan.Cureus2022
35641513Facemask wearing does not impact neuro-electrical brain activity.Sci Rep2022
35468369Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene.Stem Cell Res2022
35533453Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources.Clin Neurol Neurosurg2022
35393129Pseudotumor cerebri syndrome in children: Clinical characteristic and re-classification.Brain Dev2022
35064218Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.Nat Genet2022
34255318Population Pharmacokinetics Modeling of Lamotrigine in Jordanian Epileptic Patients Using Dried Blood Spot Sampling.Drug Res (Stuttg)2021
33824500Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.Genet Med2021
34059570Could vagus nerve stimulation influence bone remodeling?J Musculoskelet Neuronal Interact2021
34026104The clinical characteristics of primary headache and associated factors in children: A retrospective descriptive study.Ann Med Surg (Lond)2021
33130807Frequency of antiepileptic drugs and response change in pediatric patients receiving 2 or more antiepileptic drugs.Neurosciences (Riyadh)2020
31841741Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan.Clin Neurol Neurosurg2020
31987222Parental use of conventional and complementary therapy for autism in Jordan.Complement Ther Med2020
31890842School bullying: an increasingly recognized etiology for psychogenic non-epileptic seizures: report of two cases.Int J Pediatr Adolesc Med2019
29728757Recurrent meningitis in children: etiologies, outcome, and lessons to learn.Childs Nerv Syst2018
30032809Predictors of nonadherence in children and adolescents with epilepsy: A multimethod assessment approach.Epilepsy Behav2018
30805537Anti-NMDA receptor encephalitis in a toddler: A diagnostic challenge.Int J Pediatr Adolesc Med2018
27431290Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.Mol Psychiatry2017
29057851Type and etiology of pediatric epilepsy in Jordan. A multi-center study.Neurosciences (Riyadh)2017
29149668Parental knowledge and attitudes towards epilepsy -A study from Jordan.Seizure2017
28805828Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.Nat Genet2017
28848686Chromatographic Characterization and Method Development for Determination of Levetiracetam in Saliva: Application to Correlation with Plasma Levels.J Anal Methods Chem2017
27843043Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients.Brain Dev2017
27356661Patterns of antiepileptic drugs use in epileptic pediatric patients in Jordan.Neurosciences (Riyadh)2016
26341288Clinical presentation, etiology, and outcome of stroke in children: A hospital-based study.Brain Dev2016
27761255Congenital insensitivity to pain and anhydrosis due to a rare mutation and that is complicated by inflammatory bowel disease and amyloidosis: a case report.Clin Case Rep2016
27889060Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.Am J Hum Genet2016
25231362Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.Neurogenetics2015
26320891Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.Am J Hum Genet2015
26188928Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome.BMC Med Genet2015
26109232Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.Am J Med Genet A2015
25917818Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.Genome Res2015
25848753Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.Nat Genet2015
25656254Bilateral pleural effusion as a complication of central venous catheterization.J Vasc Access2015
25762586Intracranial Hypertension in Children: Etiologies, Clinical Features, and Outcome.J Child Neurol2015
25468513Vagus nerve stimulation therapy in a developing country: a long term follow up study and cost utility analysis.Seizure2015
23998926Manifestations and treatment of epilepsy in children with neurometabolic disorders: a series from Jordan.Seizure2014
25521379Katanin p80 regulates human cortical development by limiting centriole and cilia number.Neuron2014
25044680Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.Hum Mutat2014
24613245Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.Eur J Paediatr Neurol2014
24482476Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.Science2014
24478242Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.Am J Med Genet A2014
23522625Clinical and inheritance profile of familial childhood epilepsy in Jordan.Seizure2013
24108130New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.J Biol Chem2013
24078737Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.Neurology2013
23962635Diagnostic delay of autism in Jordan: review of 84 cases.Libyan J Med2013
22700964Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.J Biol Chem2012
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Collaborators

Istanbul University
Co-authored papers 5
College of Medicine and Health Sciences, United Arab Emirates University
Co-authored papers 5
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 4
Co-authored papers 4
University of California
Co-authored papers 3
Hamad Medical Corporation.
Co-authored papers 3
Institute of Human Genetics, University Medical Center Gottingen
Co-authored papers 3
David Geffen School of Medicine, University of California los angeles
Co-authored papers 3
Max Planck Institute for Molecular Genetics FG Development and Disease
Co-authored papers 3
Max Planck Institute for Molecular Genetics
Co-authored papers 3
university of california los angeles
Co-authored papers 3
King Faisal Specialist Hospital and Research Center
Co-authored papers 3
University of Virginia
Co-authored papers 3
Co-authored papers 3
University of California
Co-authored papers 2
Sydney University Clinical School, Children's Hospital
Co-authored papers 2
Rady Children's Institute for Genomic Medicine, University of California
Co-authored papers 2
Medical University of Vienna
Co-authored papers 2
Kocaeli University Faculty of Medicine
Co-authored papers 2
College of Medicine, University of Duhok
Co-authored papers 2
Boston Children's Hospital
Co-authored papers 2
Wah Medical College
Co-authored papers 2
Yale School of Medicine
Co-authored papers 2
Howard Hughes Medical Institute, The Rockefeller University
Co-authored papers 2
University of Pennsylvania
Co-authored papers 2
Cairo University
Co-authored papers 2
Broad Institute of MIT and Harvard
Co-authored papers 2
Co-authored papers 2
Blood Borne Infections Research Center, Academic Center for Education
Co-authored papers 2
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 2