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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 3
2007 2
2008 1
2010 5
2011 2
2012 1
2013 2
2014 2
2015 9
2016 9
2017 3
2018 5
2019 8
2021 6
2022 10
2023 2

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62 results

Results by year

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Page 1
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Gripp KW, Morse LA, Axelrad M, Chatfield KC, Chidekel A, Dobyns W, Doyle D, Kerr B, Lin AE, Schwartz DD, Sibbles BJ, Siegel D, Shankar SP, Stevenson DA, Thacker MM, Weaver KN, White SM, Rauen KA. Gripp KW, et al. Among authors: shankar sp. Am J Med Genet A. 2019 Sep;179(9):1725-1744. doi: 10.1002/ajmg.a.61270. Epub 2019 Jun 20. Am J Med Genet A. 2019. PMID: 31222966 Free PMC article.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R. Germain DP, et al. Among authors: shankar sp. N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198. N Engl J Med. 2016. PMID: 27509102 Free article. Clinical Trial.
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U. Hughes DA, et al. Among authors: shankar sp. J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. J Med Genet. 2017. PMID: 27834756 Free PMC article. Clinical Trial.
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 Review.
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
Dimmock D, Caylor S, Waldman B, Benson W, Ashburner C, Carmichael JL, Carroll J, Cham E, Chowdhury S, Cleary J, D'Harlingue A, Doshi A, Ellsworth K, Galarreta CI, Hobbs C, Houtchens K, Hunt J, Joe P, Joseph M, Kaplan RH, Kingsmore SF, Knight J, Kochhar A, Kronick RG, Limon J, Martin M, Rauen KA, Schwarz A, Shankar SP, Spicer R, Rojas MA, Vargas-Shiraishi O, Wigby K, Zadeh N, Farnaes L. Dimmock D, et al. Among authors: shankar sp. Am J Hum Genet. 2021 Jul 1;108(7):1231-1238. doi: 10.1016/j.ajhg.2021.05.008. Epub 2021 Jun 4. Am J Hum Genet. 2021. PMID: 34089648 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.
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.
Fabry disease in infancy and early childhood: a systematic literature review.
Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ. Laney DA, et al. Among authors: shankar sp. Genet Med. 2015 May;17(5):323-30. doi: 10.1038/gim.2014.120. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232851 Free article. Review.
Genetic factors modifying clinical expression of autosomal dominant RP.
Daiger SP, Shankar SP, Schindler AB, Sullivan LS, Bowne SJ, King TM, Daw EW, Stone EM, Heckenlively JR. Daiger SP, et al. Among authors: shankar sp. Adv Exp Med Biol. 2006;572:3-8. doi: 10.1007/0-387-32442-9_1. Adv Exp Med Biol. 2006. PMID: 17249547 Free PMC article. Review. No abstract available.
62 results