A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative. - Shashi V; Schoch K; Spillmann R; Cope H; Tan QK; Walley N; Pena L; McConkie-Rosell A; Jiang YH; Stong N; Need AC; Goldstein DB (Genetics in medicine : official journal of the American College of Medical Genetics, 2019)