Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

Conventional genetic testing of individuals with neurodevelopmental presentations and congenital anomalies (ND/CAs), i.e., the analysis of sequence and copy number variants, leaves a substantial proportion of them unexplained. Some of these cases have been shown to result from DNA methylation defect...

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Udgivet i:Am J Hum Genet
Main Authors: Aref-Eshghi, Erfan, Bend, Eric G., Colaiacovo, Samantha, Caudle, Michelle, Chakrabarti, Rana, Napier, Melanie, Brick, Lauren, Brady, Lauren, Carere, Deanna Alexis, Levy, Michael A., Kerkhof, Jennifer, Stuart, Alan, Saleh, Maha, Beaudet, Arthur L., Li, Chumei, Kozenko, Maryia, Karp, Natalya, Prasad, Chitra, Siu, Victoria Mok, Tarnopolsky, Mark A., Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Krantz, Ian D., Deardorff, Matthew A., Schwartz, Charles E., Sadikovic, Bekim
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6451739/
https://ncbi.nlm.nih.gov/pubmed/30929737
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.03.008
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