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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Publicat a:Am J Hum Genet
Autors principals: 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
Idioma:Inglês
Publicat: Elsevier 2019
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Article
Accés en línia: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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