Genetic testing for Usher syndrome

1. Bolz HJ, Roux AF. Clinical utility gene card for: Usher syndrome. Eur J Hum Genet. 2011 Aug;19(8). doi: 10.1038/ejhg.2011.15. Epub 2011 Mar 9. PubMed PMID: 21697857; PubMed Central PMCID: PMC3172919.Search in Google Scholar

2. Plantinga RF, Kleemola L, Huygen PL, Joensuu T, Sankila EM, Pennings RJ, et al. Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients. Audiol Neurootol. 2005 Mar-Apr;10(2):79-89. Epub 2005 Jan 12. PubMed PMID: 15650299.10.1159/00008336315650299Search in Google Scholar

3. Iannaccone A, Kritchevsky SB, Ciccarelli ML, Tedesco SA, Macaluso C, Kimberling WJ, et al. Kinetics of visual field loss in Usher syndrome Type II. Invest Ophthalmol Vis Sci. 2004 Mar;45(3):784-92. PubMed PMID: 14985291.10.1167/iovs.03-090614985291Search in Google Scholar

4. Pennings RJ, Huygen PL, Orten DJ, Wagenaar M, van Aarem A, Kremer H, et al. Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a. Acta Ophthalmol Scand. 2004 Apr;82(2):131-9. PubMed PMID: 15043528.10.1111/j.1600-0420.2004.00234.x15043528Search in Google Scholar

5. Lentz J, Keats BJB. Usher Syndrome Type I. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews(R). Seattle (WA)1993.Search in Google Scholar

6. Lentz J, Keats BJB. Usher Syndrome Type II. In: RA Pagon, MP Adam, HH Ardinger, Wallace SE, Amemiya A, Bean LJH, et al., editors. GeneReviews(R). Seattle (WA)1993.Search in Google Scholar

7. Liquori A, Vaché C, Baux D, Blanchet C, Hamel C, Malcolm S, 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

8. 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

9. 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

10. 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