Centre for Arab Genomic Studies

Recent papers from Centre for Arab Genomic Studies

1. Pathogenic variation underlying rare diseases in an Arab population: implications for screening programsGenetics in Medicine Open · 2025
2. Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA databaseFrontiers in Genetics · 2023
3. Spectrum of Genetic Disorders and Gene Variants in the United Arab Emirates National Population: Insights from the CTGA Database2023
4. A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International EffortJournal of Neuromuscular Diseases · 2021
5. Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic DisordersGenes · 2021
6. Epidermal growth factor receptor signaling uncouples germ cells from the somatic follicular compartment at ovulationNature Communications · 2021
7. Clinical and Molecular Update on the Fourth Reported Family with Hamamy SyndromeMolecular Syndromology · 2021
8. A Report on a Family with TMTC3-Related Syndrome and ReviewCase Reports in Medicine · 2020
9. SOX11-related syndrome: report on a new case and reviewClinical Dysmorphology · 2020
10. Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG GenesJournal of Pediatric Hematology/Oncology · 2020
11. Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndromeAmerican Journal of Medical Genetics Part A · 2020
12. The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase DeficiencyJournal of Pediatric Genetics · 2019
13. Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 casesMolecular Genetics & Genomic Medicine · 2018
14. COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic VariantsMolecular Syndromology · 2018
15. Single‐center experience of N‐linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in ArabsAnnals of Human Genetics · 2017
16. Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case reportBMC Medical Genetics · 2017
17. Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI‐related genes from the United Arab EmiratesInternational Journal of Dermatology · 2017
18. A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati ChildMedical Principles and Practice · 2017
19. Meta-analyses of the association of HLA-DRB1 alleles with rheumatoid arthritis among ArabsInternational Journal of Rheumatic Diseases · 2016
20. Microcephalic primordial dwarfism in an Emirati patient with PNKP mutationAmerican Journal of Medical Genetics Part A · 2016