Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with
unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (…

Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …

Importance The use of genome-wide tests to provide molecular diagnosis for individuals with
autism spectrum disorder (ASD) requires more study. Objective To perform chromosomal …

Recent studies have highlighted the involvement of rare (<1% frequency) copy-number
variations and point mutations in the genetic etiology of autism spectrum disorder (ASD); these …

The standard of care for first-tier clinical investigation of the aetiology of congenital malformations
and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy…

The three members of the human neurexin gene family, neurexin 1 (NRXN1), neurexin 2 (NRXN2),
and neurexin 3 (NRXN3), encode neuronal adhesion proteins that have important …

We have developed P heno T ips: open source software for collecting and analyzing
phenotypic information for patients with genetic disorders. Our software combines an easy‐to‐use …

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been
reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental …

Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous
disorders that are characterized by motor impairment and early age of onset, frequently …

Copy number variations (CNVs) are implicated across many neurodevelopmental disorders
(NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to …