Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes

Pediatric developmental syndromes present with systemic, complex, and often overlapping clinical features that are not infrequently a consequence of Mendelian inheritance of mutations in genes involved in DNA methylation, establishment of histone modifications, and chromatin remodeling (the “epigene...

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Bibliographic Details
Published in:Am J Hum Genet
Main Authors: Aref-Eshghi, Erfan, Rodenhiser, David I., Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Hood, Rebecca L., Bulman, Dennis E., Kernohan, Kristin D., Boycott, Kym M., Campeau, Philippe M., Schwartz, Charles, Sadikovic, Bekim
Format: Artigo
Language:Inglês
Published: Elsevier 2018
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5777983/
https://ncbi.nlm.nih.gov/pubmed/29304373
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.12.008
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