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identify variants associated with five novel diseases.\n\t\t\t\t\tPLoS One.\n\t\t\t\t\t2012;\n\t\t\t\t\t7:\n\t\t\t\t\te28936.","DOI":"10.1371\/journal.pone.0028936"},{"key":"i1552-5783-60-14-4701-b08","doi-asserted-by":"crossref","unstructured":"Ebermann\n\t\t\t\t\t\t\tI,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tPhillips\n\t\t\t\t\t\t\tJB,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tLiebau\n\t\t\t\t\t\t\tMC,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tPDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.\n\t\t\t\t\tJ Clin Invest.\n\t\t\t\t\t2010;\n\t\t\t\t\t120:\n\t\t\t\t\t1812\u20131823.","DOI":"10.1172\/JCI39715"},{"key":"i1552-5783-60-14-4701-b09","doi-asserted-by":"crossref","unstructured":"Oishi\n\t\t\t\t\t\t\tM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tOishi\n\t\t\t\t\t\t\tA,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tGotoh\n\t\t\t\t\t\t\tN,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tComprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.\n\t\t\t\t\tInvest Ophthalmol Vis Sci.\n\t\t\t\t\t2014;\n\t\t\t\t\t55:\n\t\t\t\t\t7369\u20137375.","DOI":"10.1167\/iovs.14-15458"},{"key":"i1552-5783-60-14-4701-b10","doi-asserted-by":"crossref","unstructured":"Eandi\n\t\t\t\t\t\t\tCM,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tDallorto\n\t\t\t\t\t\t\tL,\n\t\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\tSpinetta\n\t\t\t\t\t\t\tR,\n\t\t\t\t\t\t\n\t\t\t\t\t\tet al.\n\t\t\t\t\t\n\t\t\t\t\tTargeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.\n\t\t\t\t\tSci 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