A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology - Vissers, Lisenka E.L.M.; van Nimwegen, Kirsten J.M.; Schieving, Jolanda H.; Kamsteeg, Erik-Jan; Kleefstra, Tjitske; Yntema, Helger G.; Pfundt, Rolph; van der Wilt, Gert Jan; Krabbenborg, Lotte; Brunner, Han G.; van der Burg, Simone; Grutters, Janneke; et al. (Genetics in medicine, 2017)
Keywords: 631/1647/514; 631/208/2489/1512; 692/617/375/2764; 692/700/139; Adolescent; Biomedical and Life Sciences; Biomedicine; Child; Child, Preschool; Cost-Benefit Analysis; Female; Genetic testing; Genetic Testing - methods; Genetic Testing - statistics & numerical data; Human Genetics; Humans; Infant; Laboratory Medicine; Male; Neurology; Neurology - methods; Neurology - statistics & numerical data; Original; original-research-article; Patient Acceptance of Health Care - statistics & numerical data; Pediatrics; Pediatrics - methods; Pediatrics - statistics & numerical data; Standard of Care - economics; Standard of Care - standards; Standard of Care - statistics & numerical data; Whole Exome Sequencing - methods; Whole Exome Sequencing - statistics & numerical data; pediatric neurology; Prospective Clinical Utility Study; whole-exome sequencing; diagnostic yield; health-care resource use