Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome. - Villate O; Ibarluzea N; Fraile-Bethencourt E; Valenzuela A; Velasco EA; Grozeva D; Raymond FL; Botella MP; Tejada MI (Frontiers in genetics, 2018)