Chromosomal Microarray Analysis as a First-Tier Clinical Diagnostic Test in Patients With Developmental Delay/Intellectual Disability, Autism Spectrum Disorders, and Multiple Congenital Anomalies: A Prospective Multicenter Study in Korea.

Woori JangYonggoo KimEunhee HanJoonhong ParkHyojin ChaeAhlm KwonHayoung ChoiJiyeon KimJung Ok SonSang Jee LeeBo Young HongDae Hyun JangJi Yoon HanJung Hyun LeeSo Young KimIn Goo LeeIn Kyung SungYeonsook MoonMyung-Shin KimJoo Hyun Park

Published in: Annals of laboratory medicine (2019)

Clinical application of CMA as a first-tier test improves diagnostic yields and the quality of clinical management in patients with DD/ID, ASD, and MCA.

Keyphrases

intellectual disability
autism spectrum disorder
attention deficit hyperactivity disorder
copy number
quality improvement
gene expression
dna methylation