Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

Abstract Between 1% and 3% of persons in general population are estimated to have some
degree of intellectual disability. A diagnosis of intellectual disability is based on clinical …

DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a
wide range of genetic determinants. However, a comprehensive analysis of these data, in …

Abstract Combined Annotation-Dependent Depletion (CADD) is a widely used measure of
variant deleteriousness that can effectively prioritize causal variants in genetic analyses …

Purpose This meta-analysis aims to compare the diagnostic and clinical utility of exome
sequencing (ES) vs genome sequencing (GS) in pediatric and adult patients with rare …

Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being
responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic …

Abstract Background Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder
characterized by psychiatric and neurological features. Most reported cases are caused by …

Purpose Clinical sequencing emerging in health care may result in secondary findings
(SFs). Methods Seventy-four of 6240 (1.2%) participants who underwent genome or exome …

Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …

Importance Children with medical complexity (CMC) represent a growing population in the
pediatric health care system, with high resource use and associated health care costs. A …