DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a
wide range of genetic determinants. However, a comprehensive analysis of these data, in …

Purpose We describe the clinical implementation of genome-wide DNA methylation analysis
in rare disorders across the EpiSign diagnostic laboratory network and the assessment of …

Large structural chromosomal deletions and duplications, referred to as copy number
variants (CNVs), play a role in the pathogenesis of neurodevelopmental disorders (NDDs) …

Mendelian neurodevelopmental disorders customarily present with complex and
overlapping symptoms, complicating the clinical diagnosis. Individuals with a growing …

Overlapping clinical phenotypes and an expanding breadth and complexity of genomic
associations are a growing challenge in the diagnosis and clinical management of …

Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein
(SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome …

Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple
malformations and a characteristic facial gestalt. The first individuals ascertained carried de …

Sequence-based genetic testing identifies causative variants in~ 50% of individuals with
developmental and epileptic encephalopathies (DEEs). Aberrant changes in DNA …

Hydrocephalus, characterized by cerebral ventriculomegaly, is the most common disorder
requiring brain surgery in children. Recent studies have implicated SMARCC1, a component …

Intellectual disability encompasses a wide spectrum of neurodevelopmental disorders, with
many linked genetic loci. However, the underlying molecular mechanism for more than 50 …