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 number of the so-…

Altered gene expression in tumors can be caused by copy number alterations to DNA or
mutation affecting coding or regulatory regions of genes. However, epigenetic events may also …

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

Angelman syndrome is a neurodevelopmental disorder caused by a deficiency of the
imprinted and maternally expressed UBE3A gene. Although de novo genetic and epigenetic …

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 …

MicroRNAs (miRs) are non-coding RNA molecules involved in cancer initiation and
progression. Deregulated miR expression has been implicated in cancer; however, there are no …

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

Exposures to environmental carcinogens and unhealthy lifestyle choices increase the
incidence of breast cancer. One such compound, benzo(a)pyrene (BaP), leads to covalent DNA …

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