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Nadirah Damseh

ScholarGPS® ID: 52439915817230

Affiliation

Hospital for Sick Children, Toronto, Canada

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Medical Genetics

Metrics Summary

Publication Count

10

Predicted Citations

229

Predicted h-index

5

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy (journal article) Shieh, Joseph T. \| Tintos-Hernandez, Jesus A. \| Murali, Chaya N. \| Penon-Portmann, Monica \| Flores-Mendez, Marco \| Santana, Adrian \| Bulos, Joshua A. \| Du, Kang \| Dupuis, Lucie \| Damseh, Nadirah \| ... \| Ortiz-González, Xilma R. Human Genetics and Genomics Advances, volume 4, issue 4, pages 100236- (2023). 10.1016/j.xhgg.2023.100236 Cited by (1) \| Cite \| Source
Functional Characterization of Novel Lunatic Fringe Variants in Spondylocostal Dysostosis Type-III with Scoliosis (journal article) Wengryn, Parker \| Silveira, Karina da Costa \| Oborn, Connor \| Soltys, Carrie-Lynn \| Beke, Alexander \| Chacon-Fonseca, Inara \| Damseh, Nadirah \| Rodriguez, Marco Quesada \| Badilla-Porras, Ramses \| Kannu, Peter Human Mutation, volume 2023 (2023). 10.1155/2023/5989733 Cited by (1) \| Cite \| Source
Pontocerebellar hypoplasia associated with p. Arg183Trp homozygous variant in EXOSC1 gene: A case report (journal article) Damseh, Nadirah S. \| Obeidat, Ali N. \| Ahammed, Khondakar Sayef \| Al‐Ashhab, Motee \| Awad, Motee Abu \| van Hoof, Ambro American Journal of Medical Genetics Part A, volume 191, issue 7, pages 1923-1928 (2023). 10.1002/ajmg.a.63198 Cited by (1) \| Cite \| Source
Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers–Danlos syndrome (journal article) Damseh, Nadirah \| Dupuis, Lucie \| O'Connor, Constance \| Oh, Rachel Youjin \| Wang, Yi Wen \| Stavropoulos, Dimitri James \| Schwartz, Sarah B. \| Mendoza‐Londono, Roberto American Journal of Medical Genetics Part A, volume 188, issue 5, pages 1376-1383 (2022). 10.1002/ajmg.a.62672 Cited by (3) \| Cite \| Source
Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin? (journal article) Damseh, Nadirah \| Stimec, Jennifer \| O’Brien, Alan \| Marshall, Christian \| Savarirayan, Ravi \| Jawad, Ali \| Laxer, Ronald \| Kannu, Peter Orphanet Journal of Rare Diseases, volume 14, issue 1 (2019). 10.1186/s13023-019-1138-x Cited by (3) \| Cite \| Source
Severe phenotype of X‐linked dominant chondrodysplasia punctata (journal article) Damseh, Nadirah \| Chong, Karen \| Marshall, Christian \| Kratz, Lisa \| Teitelbaum, Ronni \| Shannon, Patrick \| Kannu, Peter Clinical Case Reports, volume 5, issue 9, pages 1435-1437 (2017). 10.1002/ccr3.1008 Cite \| Source \| Open Access
Primary ciliary dyskinesia: mechanisms and management (journal article) Damseh, Nadirah \| Quercia, Nada \| Rumman, Nisreen \| Dell, Sharon \| Kim, Raymond The Application of Clinical Genetics, volume Volume 10 (2017). 10.2147/TACG.S127129 Cited by (49) \| Cite \| Source \| Open Access
Mutations in SLC1A4 , encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination (journal article) Damseh, Nadirah \| Simonin, Alexandre \| Jalas, Chaim \| Picoraro, Joseph A \| Shaag, Avraham \| Cho, Megan T \| Yaacov, Barak \| Neidich, Julie \| Al-Ashhab, Motee \| Juusola, Jane \| ... \| Edvardson, Simon Journal of Medical Genetics, volume 52, issue 8, pages 541-547 (2015). 10.1136/jmedgenet-2015-103104 Cited by (62) \| Cite \| Source
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration (journal article) Damseh, Nadirah \| Danson, Chris M. \| Al-Ashhab, Motee \| Abu-Libdeh, Bassam \| Gallon, Matthew \| Sharma, Kanchan \| Yaacov, Barak \| Coulthard, Elizabeth \| Caldwell, Maeve A. \| Edvardson, Simon \| ... \| Elpeleg, Orly neurogenetics, volume 16, issue 3, pages 215-221 (2015). 10.1007/s10048-015-0446-0 Cited by (39) \| Cite \| Source \| Open Access
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions (journal article) Melchionda, Laura \| Damseh, Nadirah S. \| Abu Libdeh, Bassam Y. \| Nasca, Alessia \| Elpeleg, Orly \| Zanolini, Alice \| Ghezzi, Daniele Frontiers in Genetics, volume 5 (2014). 10.3389/fgene.2014.00397 Cited by (17) \| Cite \| Source \| Open Access