Overgrowth disorders are a heterogeneous group of conditions characterized by increased
growth parameters and other variable clinical features such as intellectual disability and …

Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome
comprising microcephaly, craniofacial anomalies, hearing loss, dysmorphic features, and, in …

Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation.
Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are …

Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown
to be essential for normal learning and synaptic plasticity in mice, but its requirement for …

Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth
syndrome, is an overgrowth intellectual disability syndrome first described in 2014 …

We identified individuals with variations in ACTL6B, a component of the chromatin remodeling
machinery including the BAF complex. Ten individuals harbored bi-allelic mutations and …

Mutations that perturb normal pre-mRNA splicing are significant contributors to human
disease. We used exome sequencing data from 7833 probands with developmental disorders (…

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals
in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 …

The occurrence of non-epileptic hyperkinetic movements in the context of developmental
epileptic encephalopathies is an increasingly recognized phenomenon. Identification of …

KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker
type of blepharophimosis mental retardation syndromes (SBBS) and in the …