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The Application of Clinical Genetics|October 17, 2017
Primary ciliary dyskinesia: mechanisms and managementNadirah Damseh, Nada Quercia, Nisreen Rumman, et al.Frontiers in Pediatrics|May 28, 2026
Case Report: DGAT1 deficiency in three infants including a novel missense variant: structural insights and comparison with reported casesElie G Malki, Ahmad Adawi, Mayar Idkedek, et al.Clinical Case Reports|September 8, 2017
Severe phenotype of X-linked dominant chondrodysplasia punctataNadirah Damseh, Karen Chong, Christian Marshall, et al.Orphanet Journal of Rare Diseases|June 29, 2019
Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?Nadirah Damseh, Jennifer Stimec, Alan O'Brien, et al.Journal of Genetic Counseling|November 18, 2025
Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian familiesTamer Hodrob, Alaaeddin Abusalameh, Ibrahim Ismail, et al.American Journal of Medical Genetics. Part A|February 7, 2022
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndromeNadirah Damseh, Lucie Dupuis, Constance O'Connor, et al.Clinical Genetics|November 16, 2024
Genetic, Clinical, and Biochemical Characterization of a Large Cohort of Palestinian Patients With Fanconi-Bickel SyndromeTamer Hodrob, Alaaeddin Abusalameh, Ibrahim Ismail, et al.Human Mutation|April 14, 2025
Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with ScoliosisParker Wengryn, Karina da Costa Silveira, Connor Oborn, et al.Neurogenetics|April 21, 2015
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegenerationNadirah Damseh, Chris M Danson, Motee Al-Ashhab, et al.BMC Medical Genomics|June 9, 2026
A founder variant in TANGO2 p.(Leu148Trp) in ten Palestinian families: clinical characterization and haplotype analysis of TANGO2 deficiency disorderChristina Canavati, Motee Ashhab, Grace Rabie, et al.Pageof 3