Schizophrenia is a devastating neurodevelopmental disorder whose genetic influences remain
elusive. We hypothesize that individually rare structural variants contribute to the illness. …

Inherited loss-of-function mutations in BRCA1 and BRCA2 and other tumor suppressor
genes predispose to ovarian carcinomas, but the overall burden of disease due to inherited …

Inherited loss-of-function mutations in the tumor suppressor genes BRCA1, BRCA2, and
multiple other genes predispose to high risks of breast and/or ovarian cancer. Cancer-…

Enhancers are distal regulatory elements that can activate tissue-specific gene expression
and are abundant throughout mammalian genomes. Although substantial progress has been …

OBJECTIVE: Many studies of neurodevelopmental outcomes after neonatal and infant cardiac
surgery have focused on potentially modifiable risk factors for adverse outcomes, primarily …

Introduction The shape of the face is one of the most distinctive features among humans,
and differences in facial morphology have substantial implications in areas such as social …

The mammalian telencephalon plays critical roles in cognition, motor function, and emotion.
Though many of the genes required for its development have been identified, the distant-…

The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental
gene networks implicated in autism. We examined the impact of germline heterozygous …

For 15 years the mission of PhosphoSitePlus ® (PSP, https://www.phosphosite.org ) has
been to provide comprehensive information and tools for the study of mammalian post-…

Lynch syndrome (hereditary nonpolyposis colon cancer) and adenomatous polyposis
syndromes frequently have overlapping clinical features. Current approaches for molecular …