The genetic architecture of autism spectrum disorder involves the interplay of common and
rare variants and their impact on hundreds of genes. Using exome sequencing, here we …

Over the past decade, the Database of Genomic Variants (DGV; http://dgv.tcag.ca/ ) has
provided a publicly accessible, comprehensive curated catalogue of structural variation (SV) …

INTRODUCTION Advancing whole-genome precision medicine requires understanding
how gene expression is altered by genetic variants, especially those that are far outside of …

Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds
of susceptibility loci. Previous microarray and exome-sequencing studies have examined …

Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet
the genetic causes remain only partially understood as a result of extensive clinical and …

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 …

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

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…

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 1 . …

Preeclampsia and intrauterine growth restriction (IUGR) are two of the most common adverse
pregnancy outcomes, but their underlying causes are mostly unknown. Although multiple …