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N. Damseh · SciRah

Researcher profile · Semantic Scholar

N. Damseh

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N. Damseh — researcher profile on SciRah

h-index: 9
Works: 37
Citations: 409

Most-cited papers

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination
N. Damseh, Alexandre Simonin, C. Jalas, J. Picoraro +18 more
2015Journal of Medical Genetics84 citations
Semantic Scholar
Primary ciliary dyskinesia: mechanisms and management
N. Damseh, N. Quercia, Nisreen Rumman, S. Dell +1 more
2017The Application of Clinical Genetics64 citations Open access
Semantic Scholar
Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability
S. Edvardson, Y. Murakami, T. Nguyen, M. Shahrour +9 more
2016Journal of Medical Genetics48 citations
Semantic Scholar
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration
N. Damseh, C. Danson, Motee Al-Ashhab, B. Abu-Libdeh +8 more
2015Neurogenetics40 citations Open access
Semantic Scholar
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations
M. A. Shahrour, O. Staretz-Chacham, D. Dayan, J. Stephen +16 more
2016Clinical Genetics38 citations Open access
Semantic Scholar
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
Joseph T. Shieh, Jesus A. Tintos-Hernández, C. Murali, Monica Penon-Portmann +13 more
2023HGG advances23 citations Open access
Semantic Scholar
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions
L. Melchionda, N. Damseh, B. Abu-Libdeh, A. Nasca +3 more
2014Frontiers in Genetics17 citations Open access
Semantic Scholar
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial–temporal regulation of histone arginine methylation in neurodevelopment
Xiaolin Lin, Wei Wang, Ming-Yi Yang, N. Damseh +25 more
2023Genome Biology13 citations Open access
Semantic Scholar
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
T. Hartley, Élisabeth C Soubry, Meryl Acker, M. Osmond +69 more
2022Clinical Genetics10 citations
Semantic Scholar
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers–Danlos syndrome
N. Damseh, L. Dupuis, C. O'Connor, R. Oh +4 more
2022American Journal of Medical Genetics. Part A9 citations
Semantic Scholar
CRISPR knockout screens reveal genes and pathways essential for neuronal differentiation and implicate PEDS1 in neurodevelopment.
Alana Amelan, Stephan C. Collins, N. Damseh, Nanako Hamada +7 more
2026Nature Neuroscience8 citations
Semantic Scholar
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Dana E. Layo-Carris, Emily E. Lubin, Annabel K. Sangree, Kelly J. Clark +84 more
2024European Journal of Human Genetics8 citations Open access
Semantic Scholar
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals
H. Sczakiel, Max Zhao, B. Wollert-Wulf, M. Danyel +29 more
2023European Journal of Human Genetics8 citations Open access
Semantic Scholar
Pontocerebellar hypoplasia associated with p.Arg183Trp homozygous variant in EXOSC1 gene: A Case Report
N. Damseh, Ali N. Obeidat, Khondakar Sayef Ahammed, Motee Al-Ashhab +2 more
2023American Journal of Medical Genetics. Part A7 citations Open access
Semantic Scholar
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
J. Rips, Orli Halstuk, Adina Fuchs, Ziv Lang +21 more
2024Genetics in Medicine4 citations
Semantic Scholar
Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin?
N. Damseh, J. Stimec, Alan O'Brien, C. Marshall +4 more
2019Orphanet Journal of Rare Diseases4 citations Open access
Semantic Scholar
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification
Shlomit Ezer, Tal Sido, J. Rips, Ronit Hoffman Lipschuetz +16 more
2025Journal of Medical Genetics3 citations
Semantic Scholar
Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay
Soren H. Hough, Satpal S. Jhujh, Samah W. Awwad, Olive E Lewis +24 more
2025bioRxiv3 citations Open access
Semantic Scholar
LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort
Sivan Reytan Miron, Alina Kurolap, B. Abu-Libdeh, Abdel Salam Abu-Libdeh +12 more
2025Journal of Medical Genetics3 citations
Semantic Scholar
ELFN1 Deficiency: the mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy
Rhys Dore, Chu-Ting Chang, Amber Declève, Gloria Brunori +28 more
2025Genetics in Medicine3 citations Open access
Semantic Scholar
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia
Suha Daas, Nasser Abu Salah, Y. Anikster, O. Barel +25 more
2022Journal of Inherited Metabolic Disease3 citations
Semantic Scholar
Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with Scoliosis
Parker Wengryn, Karina da Costa Silveira, Connor Oborn, Carrie-Lynn Soltys +6 more
2023Human Mutation2 citations Open access
Semantic Scholar
Hereditary orotic aciduria identified by newborn screening
O. Staretz-Chacham, N. Damseh, Suha Daas, Nasser Abu Salah +20 more
2023Frontiers in Genetics2 citations Open access
Semantic Scholar
Recessive Loss of DIAPH1 Function Causes a Progressive Neurodevelopmental Syndrome with Variable Immunological Involvement.
V. G. Deforie, R. Maroofian, I. Karagoz, A. Godwin +62 more
2026Genetics in Medicine1 citations Open access
Semantic Scholar
Whole‐exome sequencing for genetic screening in high‐risk populations: Insights from consanguineous Palestinian families
Tamer Hodrob, Alaaeddin Abusalameh, Ibrahim Ismail, Bayan Awesat +5 more
2025Journal of Genetic Counseling1 citations
Semantic Scholar
Pancrelipase as Adjunctive Therapy in Severe SCOT Deficiency: A Case of a Novel OXCT1 Gene Deletion
Mo’ath Abu Hamdeh, L. Jaber, Jamal Abdullah, Anas Manhal +6 more
2025JIMD Reports1 citations Open access
Semantic Scholar
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects.
Saikat Ghosh, Jaskaran Singh, N. Damseh, M. Severino +30 more
2025Brain : a journal of neurology1 citations Open access
Semantic Scholar
Genetic, Clinical, and Biochemical Characterization of a Large Cohort of Palestinian Patients With Fanconi‐Bickel Syndrome
Tamer Hodrob, Alaaeddin Abusalameh, Ibrahim Ismail, Imad Dweikat +6 more
2024Clinical Genetics1 citations
Semantic Scholar
Severe phenotype of X‐linked dominant chondrodysplasia punctata
N. Damseh, K. Chong, C. Marshall, L. Kratz +3 more
2017Clinical Case Reports1 citations Open access
Semantic Scholar
Case Report: DGAT1 deficiency in three infants including a novel missense variant: structural insights and comparison with reported cases
Elie G. Malki, Ahmad Adawi, Mayar Idkedek, Y. Ashhab +2 more
2026Frontiers in Pediatrics0 citations Open access
Semantic Scholar
Stepwise Humanization of the Yeast TRAPP Core Enables Functional Analysis of TRAPP Variants
Chelsea Abboud, Rozmehr Shokohi, O. Pape, M. Mehranfar +3 more
2026Cells0 citations Open access
Semantic Scholar
Recurrent homozygous GLRB p.Arg472Ter variant in Palestinian hereditary hyperekplexia: a retrospective genotype–phenotype case series of nine children
Samir A. Nasser, O. Salah, Majd Shehadeh, Raghad Waheed Khanfar +4 more
2026BMC Medical Genomics0 citations Open access
Semantic Scholar
Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder
Qin Wang, Andrew K. Sobering, Christian F. Tirrito, S. Haghshenas +54 more
2026Journal of Clinical Investigation0 citations Open access
Semantic Scholar
A founder variant in TANGO2 p.(Leu148Trp) in ten Palestinian families: clinical characterization and haplotype analysis of TANGO2 deficiency disorder
Christina Canavati, Motee Ashhab, Grace Rabie, Lina Hreimat +11 more
2026BMC Medical Genomics0 citations Open access
Semantic Scholar
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders
Beatrice Valtorta, Z. Poláčková, R. Maroofian, Aveeva Herold +29 more
2026Genome Medicine0 citations Open access
Semantic Scholar
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Dana E. Layo-Carris, Emily E. Lubin, Annabel K. Sangree, Kelly J. Clark +84 more
2024European Journal of Human Genetics0 citations Open access
Semantic Scholar
Loss-of-function mutation in human Oxidation Resistance gene 1 disrupts the spatial-temporal regulation of histone arginine methylation in early brain development
Xiaolin Lin, Wei Wang, Ming-Yi Yang, N. Damseh +25 more
2022bioRxiv0 citations Open access
Semantic Scholar

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