Decades of genetic association testing in human cohorts have provided important insights
into the genetic architecture and biological underpinnings of complex traits and diseases …

Objectives: Turner syndrome (TS) is a rare sex chromosome aneuploidy, with an incidence
of four in 10,000 new-born girls. TS is often associated with impaired social communication …

Background Genomic conditions can be associated with developmental delay, intellectual
disability, autism spectrum disorder, and physical and mental health symptoms. They are …

Children with rare neurodevelopmental genetic conditions (ND-GCs) are at high risk for a
range of neuropsychiatric conditions. Sleep symptomatology may represent a …

Although rare neurodevelopmental conditions have a large Mendelian component, common
genetic variants also contribute to risk,. However, little is known about how this polygenic …

A range of rare mutations involving micro-deletion or-duplication of genetic material (copy
number variants (CNVs)) have been associated with high neurodevelopmental and …

Background SYNGAP1 variants are associated with varying degrees of intellectual disability
(ID), developmental delay (DD), epilepsy, autism, and behavioural difficulties. These …

Background Parents of individuals with rare neurodevelopmental conditions and intellectual
disabilities (ID) are vulnerable to mental health difficulties, which vary between parents and …

Common and rare genetic variants that impact adult cognitive performance also predispose
to rare neurodevelopmental conditions involving cognitive deficits in children. However, their …

Background There is a critical need for the development of dependable and valid anxiety
assessment tools suitable for people with moderate to severe intellectual disabilities …