Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …

Genomics is a relatively new scientific discipline, having DNA sequencing as its core
technology. As technology has improved the cost and scale of genome characterization over …

Several molecular and phenotypic algorithms exist that establish genotype–phenotype
correlations, including facial recognition tools. However, no unified framework that …

Importance Severe coronavirus disease 2019 (COVID-19) can occur in younger,
predominantly male, patients without preexisting medical conditions. Some individuals may …

To dissect the genetic architecture of blood pressure and assess effects on target organ
damage, we analyzed 128,272 SNPs from targeted and genome-wide arrays in 201,529 …

Copy number variants (CNVs) are associated with many neurocognitive disorders; however,
these events are typically large, and the underlying causative genes are unclear. We …

Impressive progress has been made in the field of Next Generation Sequencing (NGS).
Through advancements in the fields of molecular biology and technical engineering …

It is well established that autism spectrum disorders (ASD) have a strong genetic
component; however, for at least 70% of cases, the underlying genetic cause is unknown …

Work over the past 25 years has resulted in the identification of genes responsible for~ 50%
of the estimated 7,000 rare monogenic diseases, and it is predicted that most of the …

Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de
novo mutations but few recurrently disrupted genes. We therefore developed a modified …