To identify candidate genes for intellectual disability, we performed a meta-analysis on
2,637 de novo mutations, identified from the exomes of 2,104 patient–parent trios. Statistical …

Background The causes of intellectual disability remain largely unknown because of
extensive clinical and genetic heterogeneity. Methods We evaluated patients with …

Severe intellectual disability (ID) occurs in 0.5% of newborns and is thought to be largely
genetic in origin,. The extensive genetic heterogeneity of this disorder requires a genome …

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

De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account …

We present, on behalf of EuroGentest and the European Society of Human Genetics,
guidelines for the evaluation and validation of next-generation sequencing (NGS) …

The advent of massive parallel sequencing is rapidly changing the strategies employed for
the genetic diagnosis and research of rare diseases that involve a large number of genes …

X-linked forms of mental retardation (XLMR) include a variety of different disorders and may
account for up to 25% of all inherited cases of mental retardation 1. So far, seven X …

Despite the high heritability of autism spectrum disorders (ASD), characterized by persistent
deficits in social communication and interaction and restricted, repetitive patterns of …

Massive parallel sequencing technology has become the predominant technique for genetic
diagnostics and research. Many genetic laboratories have wrestled with the challenges of …