Cite

1. Khan JA, Ide CH, Strickland MP. Coats’ type retinitis pigmentosa. Surv Ophthalmol. 1988 Mar-Apr;32(5):317-32. Review. PubMed PMID: 2457260.10.1016/0039-6257(88)90094-XSearch in Google Scholar

2. Ammann F, Klein D, Franceschetti A. Genetic and epidemiological investigation of pigmentary degeneration of the retina and allied disorders in Switzerland. J Neurol Sci. 1965 Mar-Apr;2(2):183-196. PubMed PMID: 5878602.10.1016/0022-510X(65)90079-1Open DOISearch in Google Scholar

3. Boughman JA, Conneally PM, Nance WE. Population genetic studies of retinitis pigmentosa. Am J Hum Genet. 1980 Mar;32(2):223-35. PubMed PMID: 7386458; PubMed Central PMCID: PMC1686021.Search in Google Scholar

4. Jay M. On the heredity of retinitis pigmentosa. Br J Ophthalmol. 1982 Jul;66(7):405-16. PubMed PMID: 7093178; PubMed Central PMCID: PMC1039814.10.1136/bjo.66.7.40510398147093178Search in Google Scholar

5. Puech B, Kostrubiec B, Hache JC, Francois P. [Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France]. J Fr Ophtalmol. 1991;14(3):153-64. Review. French. PubMed PMID: 1918822.Search in Google Scholar

6. Fahim AT, Daiger SP, Weleber RG. Nonsyndromic Retinitis Pigmentosa Overview. In: RA Pagon, MP Adam, HH Ardinger, SE Wallace, A Amemiya, LJH Bean, et al., editors. GeneReviews(R). Seattle (WA)1993.Search in Google Scholar

7. Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis. 2006 Oct 11;1:40. Review. PubMed PMID: 17032466; PubMed Central PMCID: PMC1621055.10.1186/1750-1172-1-40162105517032466Search in Google Scholar

8. Liquori A, Vaché C, Baux D, C Blanchet, C Hamel, S Malcolm, et al. Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations. Hum Mutat. 2016 Feb;37(2):184-93. doi: 10.1002/ humu.22926. Epub 2015 Nov 23. PubMed PMID: 26629787.Search in Google Scholar

9. Vaché C, Besnard T, le Berre P, García-García G, Baux D, Larrieu L, et al. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Hum Mutat. 2012 Jan;33(1):104-8. doi: 10.1002/humu.21634. Epub 2011 Nov 16. PubMed PMID: 22009552.Search in Google Scholar

10. Mayer AK, Rohrschneider K, Strom TM, Glöckle N, Kohl S, Wissinger B, et al. Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. Eur J Hum Genet. 2016 Mar;24(3):459-62. doi: 10.1038/ejhg.2015.144. Epub 2015 Jul 8. PubMed PMID: 6153215; PubMed Central PMCID: PMC4755378.Search in Google Scholar

11. O’Sullivan J, Mullaney BG, Bhaskar SS, Dickerson JE, Hall G, O’Grady A, et al. A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. J Med Genet. 2012 May;49(5):322-6. doi: 10.1136/jmedgenet-2012-100847. PubMed PMID: 22581970.Search in Google Scholar

12. Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, et al. Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. Eur J Hum Genet. 2014 Jan;22(1):99-104. doi: 10.1038/ejhg.2013.72. Epub 2013 Apr 17. PubMed PMID: 23591405; PubMed Central PMCID: PMC3865404.Search in Google Scholar

13. Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, et al. Next-generation genetic testing for retinitis pigmentosa. Hum Mutat. 2012 Jun;33(6):963-72. doi: 10.1002/humu.22045. Epub 2012 Mar 19. Erratum in: Hum Mutat. 2013 Aug;34(8):1181. PubMed PMID: 22334370; PubMed Central PMCID: PMC3490376.Search in Google Scholar

14. Wang F, Wang H, Tuan HF, Nguyen DH, Sun V, Keser V, et al. Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Hum Genet. 2014 Mar;133(3):331-45. doi: 10.1007/s00439-013-1381-5. Epub 2013 Oct 24. PubMed PMID: 24154662; PubMed Central PMCID: PMC3945441.Search in Google Scholar

15. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD. Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions. MMWR Recomm Rep 2009 Jun 12; 58 (RR-6):1-37. PubMed PMID: 19521335.Search in Google Scholar

16. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, et al. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 2012 Nov;119(11):2408-10. PubMed PMID: 22944025. Epub 2012/09/01.10.1016/j.ophtha.2012.05.04722944025Search in Google Scholar

eISSN:
2564-615X
Language:
English
Publication timeframe:
4 times per year
Journal Subjects:
Life Sciences, Genetics, Biotechnology, Bioinformatics, other