Phelan-McDermid syndrome, a rare genetic disorder in which many patients also have autism, may affect about 1 in 7,300 people ...

The study examines genetic liability for neurodevelopmental disorders, revealing its impact on social functioning and educational attainment across life stages.

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

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

A new review explores how advances in understanding X chromosome inactivation (XCI) are creating potential therapeutic opportunities for a range of X-linked genetic disorders, including Rett syndrome, ...

Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders, but some experience severe intellectual disability or developmental delay ...

“I just want people to see Luca as a little boy first,” Mariah George tells PEOPLE. “His diagnosis is a part of his story, ...

The largest genetic study of cognition to date has been published, involving nearly half a million people of European ancestry. This provides a new understanding of the genetic factors that shape ...

IntroductionHave you ever encountered the diagnosis of "Klinefelter syndrome" in a medical or nursing setting and found ...

Helix, the leading enterprise genomics platform, today announced the availability of Whole Exome+® Sequencing (WES+), a comprehensive diagnostic sequencing test now available to ordering providers ...