The genetic profile of Leber congenital amaurosis in an Australian cohort.
Jennifer A ThompsonJohn N De RoachTerri L McLarenHannah E MontgomeryLing H HoffmannIsabella R CampbellFred K ChenDavid A MackeyTina M LameyPublished in: Molecular genetics & genomic medicine (2017)
The high resolution rate achieved, equivalent to recent findings using whole exome/genome sequencing, reflects the progression from hypothesis (LCA Panel) to non-hypothesis (RD Panel) testing and, coupled with Array CGH analysis, is a highly effective first-tier test for LCA.