Executive summary A concerted effort to tackle the global health problem posed by traumatic
brain injury (TBI) is long overdue. TBI is a public health challenge of vast, but insufficiently …

Geneticists have repeatedly turned to population isolates for mapping and cloning
Mendelian disease genes. Population isolates possess many advantages in this regard …

Although family and twin studies show that there is a genetic component to migraine, no
genes predisposing to common forms of the disorder have been identified. The most …

Large-scale reference data sets of human genetic variation are critical for the medical and
functional interpretation of DNA sequence changes. Here we describe the aggregation and …

Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of
alleles, including common alleles of small effect that might be detected by genome-wide …

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 …

Current genome-wide association studies do not yet capture sufficient diversity in
populations and scope of phenotypes. To expand an atlas of genetic associations in non …

The prevalence of dementia in the Western world in people over the age of 60 has been
estimated to be greater than 5%, about two-thirds of which are due to Alzheimer's disease …

Overexpression of amplified genes is often associated with the acquisition of resistance to
cancer therapeutic agents in vitro. We have identified a similar molecular mechanism in vivo …

Inherited alleles account for most of the genetic risk for schizophrenia. However, new (de
novo) mutations, in the form of large chromosomal copy number changes, occur in a small …