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

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

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 ...

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, ...

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, ...

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

Florida has launched a newborn genomic screening pilot program designed to test babies for more than 900 genetic conditions, making it the first state-funded initiative of its kind in the nation.

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

For decades, technical limitations and entrenched expectations shaped chromosome counts, illustrating how accepted scientific ideas can persist despite conflicting evidence.

I teach a university course called Hormones and Behaviour. What surprises students is that biological sex is not produced by a single switch. What surprises me is that many students have never been ...