Similar articles for PMID: 30513137

Year	Number of Results
2004	1
2005	1
2007	2
2008	3
2009	2
2010	9
2011	6
2012	6
2013	8
2014	10
2015	11
2016	12
2017	16
2018	29
2019	34
2020	36
2021	34
2022	20
2023	11
2024	0

1

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.

Wormser O, Gradstein L, Kadar E, Yogev Y, Perez Y, Mashkit E, Elbedour K, Drabkin M, Markus B, Kadir R, Halperin D, Khalaila S, Levy J, Lifshitz T, Manor E, Birk OS. Wormser O, et al. Am J Med Genet A. 2018 Dec;176(12):2695-2703. doi: 10.1002/ajmg.a.40668. Epub 2018 Dec 4. Am J Med Genet A. 2018. PMID: 30513137

2

Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa.

Xiao X, Cao Y, Chen S, Chen M, Mai X, Zheng Y, Zhuang X, Ng TK, Chen H. Xiao X, et al. Mol Vis. 2019 Jan 20;25:35-46. eCollection 2019. Mol Vis. 2019. PMID: 30804660 Free PMC article.

3

Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.

Huang Y, Zhang J, Li C, Yang G, Liu M, Wang QK, Tang Z. Huang Y, et al. BMC Med Genet. 2010 Aug 10;11:121. doi: 10.1186/1471-2350-11-121. BMC Med Genet. 2010. PMID: 20696082 Free PMC article.

4

Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.

Hashmi JA, Albarry MA, Almatrafi AM, Albalawi AM, Mahmood A, Basit S. Hashmi JA, et al. Congenit Anom (Kyoto). 2018 Jan;58(1):10-15. doi: 10.1111/cga.12225. Epub 2017 May 28. Congenit Anom (Kyoto). 2018. PMID: 28419563

5

Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.

Di Y, Huang L, Sundaresan P, Li S, Kim R, Ballav Saikia B, Qu C, Zhu X, Zhou Y, Jiang Z, Zhang L, Lin Y, Zhang D, Li Y, Zhang H, Yin Y, Lu F, Zhu X, Yang Z. Di Y, et al. Sci Rep. 2016 Jan 20;6:19432. doi: 10.1038/srep19432. Sci Rep. 2016. PMID: 26787102 Free PMC article.

6

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.

Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Guo Y, Tian L, Liu X, Guan L, Zhang J, Keating B, Xu X, Hakonarson H, Ayuso C. Almoguera B, et al. PLoS One. 2015 Jul 21;10(7):e0133624. doi: 10.1371/journal.pone.0133624. eCollection 2015. PLoS One. 2015. PMID: 26197217 Free PMC article.

7

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.

Bocquet B, Marzouka NA, Hebrard M, Manes G, Sénéchal A, Meunier I, Hamel CP. Bocquet B, et al. Mol Vis. 2013 Dec 8;19:2487-500. eCollection 2013. Mol Vis. 2013. PMID: 24339724 Free PMC article.

8

Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.

Ullah I, Kabir F, Iqbal M, Gottsch CB, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Ullah I, et al. Mol Vis. 2016 Jul 16;22:797-815. eCollection 2016. Mol Vis. 2016. PMID: 27440997 Free PMC article.

9

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.

Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR. Davidson AE, et al. Hum Mutat. 2013 Mar;34(3):506-14. doi: 10.1002/humu.22264. Epub 2013 Jan 17. Hum Mutat. 2013. PMID: 23281133

10

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.

Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D. Bandah-Rozenfeld D, et al. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4387-94. doi: 10.1167/iovs.09-4732. Epub 2010 Apr 7. Invest Ophthalmol Vis Sci. 2010. PMID: 20375346 Free article.

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