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The wide phenotypic heterogeneity impedes the establishment of phenotype\u2013genotype correlations. To obtain a precise diagnosis, we screened the 19 known albinism genes in 990 index patients using targeted next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) and high\u2010resolution comparative genomic hybridization. A molecular diagnosis was obtained in 72.32% of patients. A total of 243 new pathogenic variants were identified. Intragenic rearrangements represented 10.8% of all pathogenic alleles. <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content> panel analysis allowed establishing a diagnosis for the rarest forms of the disease, which could not be diagnosed otherwise. Because of the clinical overlap between the different forms of the disease, diagnosis nowadays clearly relies on molecular grounds.<\/jats:p>","DOI":"10.1111\/pcmr.12688","type":"journal-article","created":{"date-parts":[[2018,1,18]],"date-time":"2018-01-18T15:28:20Z","timestamp":1516289300000},"page":"466-474","source":"Crossref","is-referenced-by-count":155,"title":["Molecular characterization of a series of 990 index patients with albinism"],"prefix":"10.1111","volume":"31","author":[{"given":"Eulalie","family":"Lasseaux","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Plaisant","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU de Bordeaux  Bordeaux 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