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Retinal dystrophies: A look beyond the eyes.
Tang VD, Egense A, Yiu G, Meyers E, Moshiri A, Shankar SP. Tang VD, et al. Among authors: shankar sp. Am J Ophthalmol Case Rep. 2022 Jun 11;27:101613. doi: 10.1016/j.ajoc.2022.101613. eCollection 2022 Sep. Am J Ophthalmol Case Rep. 2022. PMID: 35756836 Free PMC article.
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA; Undiagnosed Diseases Network. Shankar SP, et al. Among authors: shankar pr. Genet Med. 2022 Jul;24(7):1567-1582. doi: 10.1016/j.gim.2022.03.014. Epub 2022 Apr 28. Genet Med. 2022. PMID: 35482014 Free PMC article.
Prader-Willi and Angelman Syndromes: Mechanisms and Management.
Ma VK, Mao R, Toth JN, Fulmer ML, Egense AS, Shankar SP. Ma VK, et al. Among authors: shankar sp. Appl Clin Genet. 2023 Apr 6;16:41-52. doi: 10.2147/TACG.S372708. eCollection 2023. Appl Clin Genet. 2023. PMID: 37051256 Free PMC article. Review.
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA; Undiagnosed Diseases Network. Shankar SP, et al. Genet Med. 2022 Oct;24(10):2207. doi: 10.1016/j.gim.2022.07.021. Genet Med. 2022. PMID: 36205747 Free PMC article. No abstract available.
The evolving role of genetics in ophthalmology.
Couser NL, Brooks BP, Drack AV, Shankar SP. Couser NL, et al. Among authors: shankar sp. Ophthalmic Genet. 2021 Apr;42(2):110-113. doi: 10.1080/13816810.2020.1868011. Epub 2021 Jan 12. Ophthalmic Genet. 2021. PMID: 33432855 Free PMC article. Review.
71 results