Genetic testing for Leber congenital amaurosis

1. Weleber RG, Francis PJ, Trzupek KM, Beattie C. Leber Congenital Amaurosis. In: RA Pagon, MP Adam, HH Ardinger, SE Wallace, A Amemiya, LJH Bean, et al. GeneReviews®. Seattle (WA) 1993-2017.Search in Google Scholar

2. Perrault I, Rozet JM, Gerber S, Ghazi I, Ducroq D, Souied E, et al. Spectrum of retGC1 mutations in Leber’s congenital amaurosis. Eur J Hum Genet. 2000 Aug;8(8):578-82. PubMed PMID: 10951519.10.1038/sj.ejhg.5200503Search in Google Scholar

3. Fazzi E, Signorini SG, Scelsa B, Bova SM, Lanzi G. Leber’s congenital amaurosis: an update. Eur J Paediatr Neurol. 2003;7(1):13-22. PubMed PMID: 12615170.10.1016/S1090-3798(02)00135-6Search in Google Scholar

4. Eisenberger T, Neuhaus C, Khan AO, Decker C, Preising MN, Friedburg C, et al. Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. PLoS One. 2013 Nov 12;8(11):e78496. PubMed PMID: 24265693; PubMed Central PMCID: PMC3827063.Search in Google Scholar

5. Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, et al. CRB1 mutations in inherited retinal dystrophies. Hum Mutat. 2012 Feb;33(2):306-15. PubMed PMID: 22065545; PubMed Central PMCID: PMC3293109. Epub 2011/12/27.Search in Google Scholar

6. 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;58(RR-6):1-37; PubMed PMID: 19521335.Search in Google Scholar

7. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, Weleber RG. 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