Biography and Research Information
OverviewAI-generated summary
Amira Masri's research focuses on the genetic basis of neurodevelopmental disorders in children, particularly in resource-limited settings. Her work utilizes advanced genomic techniques such as exome sequencing to identify novel gene variants and understand shared mechanisms underlying conditions like polymicrogyria, global developmental delay, and intellectual disability. Masri has investigated the clinical characteristics of various pediatric neurological conditions, including Dandy-Walker malformation and pseudotumor cerebri syndrome. She also examines the challenges and strategies for diagnosing genetic disorders and providing autism services in areas with limited resources. Her publications address the role of singleton whole exome sequencing in diagnosing congenital muscle dystrophies and highlight the importance of genomic approaches in understanding rare neurodevelopmental disorders. Masri has an h-index of 19 and has published 88 papers, accumulating over 1,600 citations.
Metrics
- h-index: 19
- Publications: 88
- Citations: 1,619
Selected Publications
-
Strangulation by Hair: An Uncommon Cause of a Common Accident in Children (2025)
Collaboration Network
Top Collaborators
- Autism services in low-resource areas
- Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources
- Aseptic Meningitis and Its Viral Etiologies, Clinical Characteristics and Management Practices in Children: A Retrospective Hospital-Based Study From Jordan
- Facemask wearing does not impact neuro-electrical brain activity
- Genetic evaluation of children with autism spectrum disorders in developing and low-resource areas
Showing 5 of 6 shared publications
- Autism services in low-resource areas
- Pediatricians’ perspectives on childhood behavioral and mental health problems in Jordan
- Genetic evaluation of children with autism spectrum disorders in developing and low-resource areas
- Arabic Language Autism Diagnostic Interview (ALADIN): A Validation Study
- Generation 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
- Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene
- Coenzyme Q10 Ameliorates Chemotherapy-Induced Neurotoxicity in iPSC-Derived Neurons by Reducing Oxidative Stress
- Generation 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
- Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene
- Coenzyme Q10 Ameliorates Chemotherapy-Induced Neurotoxicity in iPSC-Derived Neurons by Reducing Oxidative Stress
- Pseudotumor cerebri syndrome in children: Clinical characteristic and re-classification
- Post SARS-CoV-2 Guillain-Barré syndrome in a child: case report and review of the literature
- Enhancing Diagnostic Accuracy Through Neuroimaging Revisions in Pediatric Pseudotumor Cerebri Syndrome: A Cross-Sectional Study
- Pseudotumor cerebri syndrome in children: Clinical characteristic and re-classification
- Post SARS-CoV-2 Guillain-Barré syndrome in a child: case report and review of the literature
- Enhancing Diagnostic Accuracy Through Neuroimaging Revisions in Pediatric Pseudotumor Cerebri Syndrome: A Cross-Sectional Study
- Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas
- Pseudotumor cerebri syndrome in children: Clinical characteristic and re-classification
- Enhancing Diagnostic Accuracy Through Neuroimaging Revisions in Pediatric Pseudotumor Cerebri Syndrome: A Cross-Sectional Study
- Global developmental delay and intellectual disability in the era of genomics: Diagnosis and challenges in resource limited areas
- Cost Effectiveness of Whole Exome Sequencing for Children with Developmental Delay in a Developing Country: A Study from Jordan
- Autism services in low-resource areas
- Genetic evaluation of children with autism spectrum disorders in developing and low-resource areas
- Autism services in low-resource areas
- Genetic evaluation of children with autism spectrum disorders in developing and low-resource areas
- Autism services in low-resource areas
- Genetic evaluation of children with autism spectrum disorders in developing and low-resource areas
- Autism services in low-resource areas
- Genetic evaluation of children with autism spectrum disorders in developing and low-resource areas
- Autism services in low-resource areas
- Genetic evaluation of children with autism spectrum disorders in developing and low-resource areas
- Generation 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
- Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene
- Generation 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
- Establishment of a human induced pluripotent stem cell (iPSC) line (JUCTCi018-A) from a patient with Charcot-Marie-Tooth disease type 2EE (CMT2EE) due to a homozygous c.122G > A p.(Arg41Gln) mutation in the MPV17 gene
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