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

Pediatric developmental syndromes present with systemic, complex, and often overlapping
clinical features that are not infrequently a consequence of Mendelian inheritance of …

Conventional genetic testing of individuals with neurodevelopmental presentations and
congenital anomalies (ND/CAs), ie, the analysis of sequence and copy number variants …

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

Epigenetic and genetic mechanisms regulate the establishment and maintenance of gene
expression in its proper context. Recent genome-wide mapping approaches have identified …

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

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 …

DNA methylation is a heritable modification of genomic DNA central to development,
imprinting, transcriptional regulation, chromatin structure, and overall genomic stability …

Given the tissue-specific nature of epigenetic processes, the assessment of disease-relevant
tissue is an important consideration for epigenome-wide association studies (EWAS). Little …

Background ADNP syndrome is a rare Mendelian disorder characterized by global
developmental delay, intellectual disability, and autism. It is caused by truncating mutations …