The discovery of the genetic causes of syndromic autism spectrum disorders and intellectual
disabilities has greatly informed our understanding of the molecular pathways critical for …

Abstract Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a
developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This …

Calling structural variations (SVs) is technically challenging, but using long reads remains
the most accurate way to identify complex genomic alterations. Here we present Sniffles2 …

Abstract Long-read Structural Variation (SV) calling remains a challenging but highly
accurate way to identify complex genomic rearrangements. Here, we present Sniffles2 …

The human X and Y chromosomes evolved from an ordinary pair of autosomes, but millions
of years ago genetic decay ravaged the Y chromosome, and only three per cent of its …

There is increasing evidence that autism spectrum disorders (ASDs) can arise from rare
highly penetrant mutations and genomic imbalances. The rare nature of these variants, and …

Dendrites and spines are the main neuronal structures receiving input from other neurons
and glial cells. Dendritic and spine number, size, and morphology are some of the crucial …

Methyl-CpG binding protein 2 (MeCP2) was first identified in 1992 as a protein that binds
specifically to methylated DNA. Mutations in the MECP2 gene were later found to be the …

Copy number variations have been frequently associated with developmental delay,
intellectual disability and autism spectrum disorders. MECP2 duplication syndrome is one of …

Rett syndrome (RTT) is an X-linked human neurodevelopmental disorder with features of
autism and severe neurological dysfunction in females. RTT is caused by mutations in …