Abstract The Drug-Gene Interaction Database (DGIdb, www. dgidb. org) is a web resource
that provides information on drug-gene interactions and druggable genes from publications …

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a male-to-
female prevalence of 4: 1. However, the genetic mechanisms underlying this gender …

Structural resolution of protein interactions enables mechanistic and functional studies as
well as interpretation of disease variants. However, structural data is still missing for most …

Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield
of patients with rare diseases. However, the cost and efforts required for reanalysis prevent …

Introduction CTCF-related disorder (CRD) is a neurodevelopmental disorder (NDD) caused
by monoallelic pathogenic variants in CTCF. The first CTCF variants in CRD cases were …

Histones hold significant interest in development and genetic disorders due to their critical
roles in chromatin dynamics, influencing gene expression and genome integrity. These roles …

Recent studies have reported that complement-related proteins modulate brain
development through regulating synapse processes in the cortex. CSMD3 belongs to a …

VarCards, an online database, combines comprehensive variant-and gene-level annotation
data to streamline genetic counselling for coding variants. Recognising the increasing …

A proportion of previously defined benign variants or variants of uncertain significance in
humans, which are challenging to identify, may induce an abnormal splicing process. An …

Rapid advances in high-throughput sequencing technologies have led to the discovery of
thousands of extrachromosomal circular DNAs (eccDNAs) in the human genome. Loss-of …