Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with reported
prevalence in the United States of 1 in 59 children (approximately 1.7%). Core deficits are …

This article describes the history of the diagnostic class of neurodevelopmental disorders
(NDDs) up to DSM-5. We further analyze how the development of genetics will transform the …

Purpose To develop an evidence-based clinical practice guideline for the use of exome and
genome sequencing (ES/GS) in the care of pediatric patients with one or more congenital …

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome
sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource …

Abstract Purpose For neurodevelopmental disorders (NDDs), etiological evaluation can be a
diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a …

Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …

Tandem DNA repeats vary in the size and sequence of each unit (motif). When expanded,
these tandem DNA repeats have been associated with more than 40 monogenic disorders …

We are performing whole-genome sequencing of families with autism spectrum disorder
(ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying …

Autism spectrum disorder (ASD) consists of a genetically heterogenous group of
neurobehavioral disorders characterized by impairment in three behavioral domains …

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