An increasing number of epilepsies are being attributed to variants in genes with epigenetic
functions. The products of these genes include factors that regulate the structure and …

De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account …

In the last decade, exome and/or genome sequencing has become a common test in the
diagnosis of individuals with features of a rare Mendelian disorder. Despite its success, this …

Local genetic correlation quantifies the genetic similarity of complex traits in specific
genomic regions. However, accurate estimation of local genetic correlation remains …

Background Developmental disorders (DDs) are early onset disorders affecting 5%–10% of
children worldwide. Chromosomal microarray analysis detecting CNVs is currently …

Rare genetic disorders, while individually rare, are collectively common. They represent
some of the most severe disorders affecting patients worldwide with significant morbidity and …

Speech and language development are complex neurodevelopmental processes that are
incompletely understood, yet current evidence suggests that speech and language …

Germline pathogenic variants in two genes encoding the lysine-specific histone
methyltransferase genes SETD1A and SETD2 are associated with neurodevelopmental …

Whereas large-scale statistical analyses can robustly identify disease-gene relationships,
they do not accurately capture genotype-phenotype correlations or disease mechanisms …

Methods integrating genetics with transcriptomic reference panels prioritize risk genes and
mechanisms at only a fraction of trait-associated genetic loci, due in part to an overreliance …