DNMT1 Y495C mutation interferes with maintenance methylation of imprinting control regions
Article in The International Journal of Biochemistry & Cell Biology (January 2024)
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Chapter 8 Epigenetics and Down syndrome
Book chapter (January 2024)
An adult patient with Tatton–Brown–Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy
Article in American Journal of Medical Genetics Part A (December 2023)