Shankar SP - Search Results

1

Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.

Yu-Wai-Man P, Shankar SP, Biousse V, Miller NR, Bean LJ, Coffee B, Hegde M, Newman NJ. Yu-Wai-Man P, et al. Among authors: shankar sp. Ophthalmology. 2011 Mar;118(3):558-63. doi: 10.1016/j.ophtha.2010.07.029. Epub 2010 Oct 30. Ophthalmology. 2011. PMID: 21036400 Free PMC article.

2

Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Mao R, Krautscheid P, Graham RP, Ganguly A, Shankar S, Ferber M, Hegde M; ACMG Laboratory Quality Assurance Committee. Mao R, et al. Genet Med. 2021 Oct;23(10):1807-1817. doi: 10.1038/s41436-021-01207-9. Epub 2021 Jun 17. Genet Med. 2021. PMID: 34140662 Free article.

3

Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome.

Xue Y, Shankar S, Cornell K, Dai Z, Wang CE, Rudd MK, Coffee B. Xue Y, et al. Am J Med Genet A. 2015 Dec;167A(12):3229-33. doi: 10.1002/ajmg.a.37371. Epub 2015 Sep 11. Am J Med Genet A. 2015. PMID: 26358311 No abstract available.

4

Retinopathy and optic atrophy: Expanding the phenotypic spectrum of pathogenic variants in the AARS2 gene.

Peragallo JH, Keller S, van der Knaap MS, Soares BP, Shankar SP. Peragallo JH, et al. Among authors: shankar sp. Ophthalmic Genet. 2018 Jan-Feb;39(1):99-102. doi: 10.1080/13816810.2017.1350723. Epub 2017 Aug 18. Ophthalmic Genet. 2018. PMID: 28820624 Free PMC article.

5

Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.

Sanchez RL, Yan J, Richards S, Mierau G, Wartchow EP, Collins CD, Shankar SP. Sanchez RL, et al. Among authors: shankar sp. Am J Ophthalmol Case Rep. 2016 Aug 27;4:50-53. doi: 10.1016/j.ajoc.2016.07.005. eCollection 2016 Dec. Am J Ophthalmol Case Rep. 2016. PMID: 29503925 Free PMC article.

6

MULTIMODAL IMAGING OF A FAMILY WITH SPINOCEREBELLAR ATAXIA TYPE 7 DEMONSTRATING PHENOTYPIC VARIATION AND PROGRESSION OF RETINAL DEGENERATION.

Levinson JD, Yan J, Lambert SR, Shankar SP. Levinson JD, et al. Among authors: shankar sp. Retin Cases Brief Rep. 2016 Summer;10(3):267-72. doi: 10.1097/ICB.0000000000000248. Retin Cases Brief Rep. 2016. PMID: 26584329 Free PMC article.

7

Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.

Ankala A, Jain N, Hubbard B, Alexander JJ, Shankar SP. Ankala A, et al. Among authors: shankar sp. Am J Med Genet A. 2018 Aug;176(8):1778-1783. doi: 10.1002/ajmg.a.38855. Epub 2018 Jul 28. Am J Med Genet A. 2018. PMID: 30055036

8

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.

9

Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3).

Weinreb NJ, Finegold DN, Feingold E, Zeng Z, Rosenbloom BE, Shankar SP, Amato D. Weinreb NJ, et al. Among authors: shankar sp. Orphanet J Rare Dis. 2015 May 22;10:64. doi: 10.1186/s13023-015-0280-3. Orphanet J Rare Dis. 2015. PMID: 25994334 Free PMC article.

10

Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial.

Mistry PK, Lukina E, Ben Turkia H, Amato D, Baris H, Dasouki M, Ghosn M, Mehta A, Packman S, Pastores G, Petakov M, Assouline S, Balwani M, Danda S, Hadjiev E, Ortega A, Shankar S, Solano MH, Ross L, Angell J, Peterschmitt MJ. Mistry PK, et al. JAMA. 2015 Feb 17;313(7):695-706. doi: 10.1001/jama.2015.459. JAMA. 2015. PMID: 25688781 Free PMC article. Clinical Trial.

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