This study offers important insight into the pathogenic basis of intragenic frameshift deletions in the carboxy-terminal domain of MECP2, which account for some Rett syndrome cases, yet similar ...

Could one genetic mutation be sufficient to bring on complex psychopathology? For decades, dominant models of mental ...

German scientists have identified rare GRIN2A gene variants that may directly cause early-onset mental illness, sometimes without epilepsy or intellectual disability. The study shows null mutations ...

Researchers have discovered new regions of the human genome particularly vulnerable to mutations. These altered stretches of DNA can be passed down to future generations and are important for how we ...

Every cancer carries a unique genetic fingerprint: variations in DNA known as “somatic variants” that occur in tumor DNA but are absent from the patient’s healthy cells. While some cancers may also ...

The risk of older fathers passing on disease-causing mutations to their children is higher than we thought. Genome sequencing has revealed that among men in their early thirties, around 1 in 50 sperm ...

A newly discovered genetic mutation unique to humans may help explain why we are significantly more vulnerable to cancer than our closest evolutionary relatives. Researchers at the University of ...

Relationship Among DNA Damage Response Gene Alterations, Molecular Subtypes, and Survival Outcomes in Patients With Metastatic Bladder Cancer Treated on CALGB 90601 Sequencing data from 56,965 ...

The sperm of a man carrying a rare genetic mutation linked to cancer was used to conceive scores of children across Europe, prompting calls for greater regulation and a limit on the number of births ...

A newly identified mutation helps super-sleepers get by on just four to six hours of shut-eye per night, while the rest of us need around eight hours. Researchers described the SIK3-N783Y mutation in ...