A new heritability-optimized scoring method called RovHer identifies the rare missense variants that explain the most genetic ...

A Lithuanian case report describes a boy with novel compound heterozygous ERBB2 variants, only the second family ever ...

Bipolar disorder is a complex psychiatric disorder, characterized by fluctuations between episodes of (hypo)mania and depression. It is estimated to affect around 40 to 50 million people worldwide.

Phelan-McDermid syndrome, a rare genetic disorder in which many patients also have autism, may affect about 1 in 7,300 people, according to researchers at Mount Sinai in New York. That works out to 13 ...

A major analysis suggests Phelan-McDermid syndrome, a genetic disorder closely linked to autism, may affect about 1 in 7,300 ...

A rapidly evolving understanding of inheritable ILD, including telomere and surfactant gene variants, is reshaping how clinicians think about genetic testing.

Genetic factor analysis uses genome-wide association summary statistics to identify shared polygenic factors underlying patterns of cross-trait genetic associations, while automatically determining ...

Scientists have identified thousands of genetic differences that change a person's risk of disease, but working out how they ...

University of Otago–Ōtākou Whakaihu Waka has led international research uncovering a new genetic cause for a rare developmental disorder that profoundly impacts brain growth and function in children.

A new study has provided new insights into the the genetic overlap among some psychiatric disorders, and can help explain why it’s not uncommon for several of these disorders to arise in the same ...