[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-X]Search 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)90079-1]Open 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.66.7.40510398147093178]Search 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: PMC1621055.10.1186/1750-1172-1-40162105517032466]Search 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.2012.05.04722944025]Search in Google Scholar