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

… David Rodenhiser and Mellissa Mann … Research by David Rodenhiser cited in this manuscript
was funded by … Mancini DN, Rodenhiser DI, Ainsworth PJ, et al. CpG methylation within …

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

Introduction Breast cancer metastasis is a complex, multi-step biological process. Genetic
mutations along with epigenetic alterations in the form of DNA methylation patterns and …

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 …

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

Breast cancer is a genetic disease arising from a series of germ-line and/or somatic DNA
changes in a variety of genes, including BRCA1 and BRCA2. DNA modifications have been …

Recent reports of cytosine methylation occurring at CpA and CpT dinucleotides in murine ES
cells as well as in Drosophila have renewed interest in methylation at sites other than CpGs…

Next-generation sequencing (NGS) technology has rapidly replaced Sanger sequencing in
the assessment of sequence variations in clinical genetics laboratories. One major limitation …