Neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism
spectrum disorders (ASD), are a large group of disorders in which early insults during brain …

Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-
degenerative disorders of motor function. Around one-third of cases have now been shown …

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 …

Genetic syndromes frequently present with overlapping clinical features and inconclusive or
ambiguous genetic findings which can confound accurate diagnosis and clinical …

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

Intellectual disability (ID) has a prevalence of~ 2–3% in the general population, having a
large societal impact. The underlying cause of ID is largely of genetic origin; however …

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

Background Since the onset of the SARS-CoV-2 pandemic, most clinical testing has focused
on RT-PCR. Host epigenome manipulation post coronavirus infection,–suggests that DNA …

Purpose HNRNPU haploinsufficiency is associated with developmental and epileptic
encephalopathy 54. This neurodevelopmental disorder is characterized by developmental …

An expanding range of genetic syndromes are characterized by genome‐wide disruptions in
DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly …