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

The breadth and complexity of genetic testing in patients with suspected Mendelian
neurodevelopmental disorders has rapidly expanded in the past two decades. However, in …

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

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

DNA methylation (DNAm) signatures are unique patterns of DNAm alterations defined for
rare disorders caused by pathogenic variants in epigenetic regulatory genes. The potential …

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

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

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

Genomic, chromosomal, and gene-specific changes in the DNA sequence underpin both
phenotypic variations in populations as well as disease associations, and the application of …

Abstract DNA methyltransferase type 1 (DNMT1) is a major enzyme involved in maintaining
the methylation pattern after DNA replication. Mutations in DNMT1 have been associated …