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Diagnostic outcomes for molecular genetic testing in children with suspected Ehlers-Danlos syndrome.
Am J Med Genet A. 2022 May;188(5):1376-1383. doi: 10.1002/ajmg.a.62672. Epub 2022 Feb 6.
Am J Med Genet A. 2022.
PMID: 35128800
The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.
Heikoop D, Brick L, Chitayat D, Colaiacovo S, Dupuis L, Faghfoury H, Goobie S, Mendoza R, Napier M, Nowaczyk M, Oh R, Silver J, Prasad C, Saleh M.
Heikoop D, et al.
Am J Med Genet A. 2021 Dec;185(12):3793-3803. doi: 10.1002/ajmg.a.62452. Epub 2021 Aug 20.
Am J Med Genet A. 2021.
PMID: 34414661
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De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III).
Oh RY, Chun K, Kowalski PE, Chitayat D.
Oh RY, et al.
Am J Med Genet A. 2023 Jun;191(6):1607-1613. doi: 10.1002/ajmg.a.63175. Epub 2023 Mar 21.
Am J Med Genet A. 2023.
PMID: 36942595
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A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
Oh RY, AlMail A, Cheerie D, Guirguis G, Hou H, Yuki KE, Haque B, Thiruvahindrapuram B, Marshall CR, Mendoza-Londono R, Shlien A, Kyriakopoulou LG, Walker S, Dowling JJ, Wilson MD, Costain G.
Oh RY, et al.
HGG Adv. 2024 Apr 24;5(3):100299. doi: 10.1016/j.xhgg.2024.100299. Online ahead of print.
HGG Adv. 2024.
PMID: 38659227
Free PMC article.
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Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Oh RY, Deshwar AR, Marwaha A, Sabha N, Tropak M, Hou H, Yuki KE, Wilson MD, Rump P, Lunsing R, Elserafy N, Chung CWT, Hewson S, Klein-Rodewald T, Calzada-Wack J, Sanz-Moreno A, Kraiger M, Marschall S, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Dowling J, Schulze A.
Oh RY, et al.
Genet Med. 2022 Nov;24(11):2399-2407. doi: 10.1016/j.gim.2022.07.024. Epub 2022 Sep 9.
Genet Med. 2022.
PMID: 36083289
Free article.
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