Evaluating the molecular diagnostic yield of joint genotyping-based approach for detecting rare germline pathogenic and putative loss-of-function variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Camp, Sabrina Y SY; Kofman, Eric E; Reardon, Brendan B; Moore, Nathanael D ND; Al-Rubaish, Abdullah M AM; Aljumaan, Mohammed M; Al-Ali, Amein K AK; Van Allen, Eliezer M EM; Taylor-Weiner, Amaro A; AlDubayan, Saud H SH