Goetz K - Search Results

1

Mutation Screening in the miR-183/96/182 Cluster in Patients With Inherited Retinal Dystrophy.

Xu S, Coku A, Muraleedharan CK, Harajli A, Mishulin E, Dahabra C, Choi J, Garcia WJ, Webb K, Birch D, Goetz K, Li W. Xu S, et al. Among authors: goetz k. Front Cell Dev Biol. 2020 Dec 23;8:619641. doi: 10.3389/fcell.2020.619641. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 33425925 Free PMC article.

2

Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.

Qian X, Wang J, Wang M, Igelman AD, Jones KD, Li Y, Wang K, Goetz KE, Birch DG, Yang P, Pennesi ME, Chen R. Qian X, et al. Among authors: goetz ke. Front Genet. 2021 Mar 2;12:647400. doi: 10.3389/fgene.2021.647400. eCollection 2021. Front Genet. 2021. PMID: 33737949 Free PMC article.

3

Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

Alapati A, Goetz K, Suk J, Navani M, Al-Tarouti A, Jayasundera T, Tumminia SJ, Lee P, Ayyagari R. Alapati A, et al. Among authors: goetz k. Invest Ophthalmol Vis Sci. 2014 Jul 31;55(9):5510-21. doi: 10.1167/iovs.14-14359. Invest Ophthalmol Vis Sci. 2014. PMID: 25082885 Free PMC article.

4

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

Wen S, Wang M, Qian X, Li Y, Wang K, Choi J, Pennesi ME, Yang P, Marra M, Koenekoop RK, Lopez I, Matynia A, Gorin M, Sui R, Yao F, Goetz K, Porto FBO, Chen R. Wen S, et al. Among authors: goetz k. Hum Mol Genet. 2023 Jun 5;32(12):2005-2015. doi: 10.1093/hmg/ddad032. Hum Mol Genet. 2023. PMID: 36811936 Free PMC article.

5

Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.

Goetz KE, Reeves MJ, Gagadam S, Blain D, Bender C, Lwin C, Naik A, Tumminia SJ, Hufnagel RB. Goetz KE, et al. Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):828-837. doi: 10.1002/ajmg.c.31843. Epub 2020 Sep 7. Am J Med Genet C Semin Med Genet. 2020. PMID: 32893963 Free PMC article.

6

eyeGENE(R): a novel approach to combine clinical testing and researching genetic ocular disease.

Goetz KE, Reeves MJ, Tumminia SJ, Brooks BP. Goetz KE, et al. Curr Opin Ophthalmol. 2012 Sep;23(5):355-63. doi: 10.1097/ICU.0b013e32835715c9. Curr Opin Ophthalmol. 2012. PMID: 22847030 Free PMC article. Review.

7

Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

Sullivan LS, Bowne SJ, Reeves MJ, Blain D, Goetz K, Ndifor V, Vitez S, Wang X, Tumminia SJ, Daiger SP. Sullivan LS, et al. Among authors: goetz k. Invest Ophthalmol Vis Sci. 2013 Sep 19;54(9):6255-61. doi: 10.1167/iovs.13-12605. Invest Ophthalmol Vis Sci. 2013. PMID: 23950152 Free PMC article.

8

NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.

Ge Z, Bowles K, Goetz K, Scholl HP, Wang F, Wang X, Xu S, Wang K, Wang H, Chen R. Ge Z, et al. Among authors: goetz k. Sci Rep. 2015 Dec 15;5:18287. doi: 10.1038/srep18287. Sci Rep. 2015. PMID: 26667666 Free PMC article.

9

Sample Confirmation Testing: A Short Tandem Repeat-Based Quality Assurance and Quality Control Procedure for the eyeGENE Biorepository.

Parrish RS, Garafalo AV, Ndifor V, Goetz KE, Reeves MJ, Yim A, Cooper RC, Iano-Fletcher J, Wang X, Tumminia SJ. Parrish RS, et al. Biopreserv Biobank. 2016 Apr;14(2):149-55. doi: 10.1089/bio.2015.0098. Epub 2016 Feb 18. Biopreserv Biobank. 2016. PMID: 26891080 Free PMC article.

10

Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.

Reeves MJ, Goetz KE, Guan B, Ullah E, Blain D, Zein WM, Tumminia SJ, Hufnagel RB. Reeves MJ, et al. Hum Mutat. 2020 Sep;41(9):1528-1539. doi: 10.1002/humu.24065. Epub 2020 Jul 5. Hum Mutat. 2020. PMID: 32531846 Free PMC article.

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