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 …

Forkhead box (Fox) transcription factors are evolutionarily conserved in organisms ranging
from yeast to humans. They regulate diverse biological processes both during development …

Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …

Background Over the past decade genome-wide association studies (GWAS) have been
applied to aid in the understanding of the biology of traits. The success of this approach is …

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

Chronic sleep disturbances, associated with cardiometabolic diseases, psychiatric disorders
and all-cause mortality,, affect 25–30% of adults worldwide. Although environmental factors …

Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a
strong genetic component complicated by substantial locus heterogeneity,. We sequenced …

There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Genomics, Intellectual Disability, and Autism | NEJM Skip to main content NEJM Group Follow
Us Facebook Twitter Instagram YouTube LinkedIn Prepare to become a physician, build your …

Schizophrenia is a severe psychiatric disorder that profoundly affects cognitive, behavioral
and emotional processes. The wide spectrum of symptoms and clinical variability in …