Researchers report a previously unrecorded de novo GLI3 frameshift variant in a Palestinian infant with Pallister-Hall ...

A genetically confirmed case of Smith-Magenis syndrome in a nine-month-old boy links bilateral high-grade vesicoureteral ...

She had just diagnosed our 11-year-old daughter, Maya, with Nicolaides-Baraitser syndrome, a genetic condition so rare there ...

The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic ...

Myelodysplastic syndromes (MDS) are a group of disorders that typically arise in adulthood, especially after the age of 70, and their five-year survival rate is around 30%. MDS are characterized by ...

In a landmark discovery, researchers from the University of Antioquia have identified a new genetic syndrome that bridges the gap between neurodevelopmental disorders and neurodegenerative diseases.

Genetic influences on complex traits change over the lifespan. Schoeler et al. show that cross-sectional and longitudinal studies can give different estimates of how genetic effects change with age, ...

A massive genetic analysis reveals that while men and women share much of the underlying risk for anxiety, they also possess ...

Children with rare genetic disorders often face years of uncertainty before receiving a diagnosis, leaving families without clear information about disease progression, treatment options, prognosis, ...

Researchers from the University of Antioquia have identified a new genetic syndrome that bridges the gap between neurodevelopmental disorders and neurodegenerative diseases. The study, published in ...

“Ultimately, we'll help the people we discriminate against if we try to understand more about them; genetics will lead to a world where there is a sympathy for the underdog.”—James D. Watson A recent ...