Showing results 2 to 6 of 6
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Title | Author(s) | Issue Date | |
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EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome Journal:Journal of Translational Genetics and Genomics | 2020 | ||
Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C Journal:BMC Medical Genomics | 2013 | ||
NSD1 mutations generate a genome-wide DNA methylation signature Journal:Nature Communications | 2015 | ||
NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2014 | 2014 | ||
A specific DNA methylation signature associated with NSD1+/- mutations in Sotos syndrome reveals a significant genome-wide loss of DNA methylation (DNAm) targeting CGs in regulatory regions of key developmental genes Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013 | 2013 |