Background De novo mutations in PURA have recently been described to cause PURA
syndrome, a neurodevelopmental disorder characterised by severe intellectual disability …

Growth promoting variants in PIK3CA cause a spectrum of developmental disorders,
depending on the developmental timing of the mutation and tissues involved. These …

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

Mutations in the MEF2C (myocyte enhancer factor 2) gene have been established as a
cause for an intellectual disability syndrome presenting with seizures, absence of speech …

Craniofacial microsomia (CFM; also known as Goldenhar syndrome), is a craniofacial
developmental disorder of variable expressivity and severity with a recognizable set of …

Abstract Background Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple
congenital anomalies/mental retardation syndrome characterized by a peculiar face, short …

Purpose Phenotype information is crucial for the interpretation of genomic variants. So far it
has only been accessible for bioinformatics workflows after encoding into clinical terms by …

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

Germline pathogenic variants in chromatin-modifying enzymes are a common cause of
pediatric developmental disorders. These enzymes catalyze reactions that regulate …

Purpose Enrichment of heterozygous missense and truncating SMAD6 variants was
previously reported in nonsyndromic sagittal and metopic synostosis, and interaction of …