Giuseppe Testa, MD, PHD, MA, is a professor of Molecular Biology at Milan’s Università Statale and Director of the Epigenetic Laboratory of Stem Cells at the European Institute of Oncology. At Human Technopole he heads the Centre for Neurogenomics, within which his lab studies the mechanisms of intellectual disability and autism.
- 04/2020 - Clinical Genetics
- 04/2020 - American Journal of Human Genetics
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Weaver syndrome (WS), an overgrowth/intellectual disability syndrome (OGID), is caused by pathogenic variants in the histone methyltransferase EZH2, which encodes a core component of the Polycomb repressive complex-2 (PRC2). Using genome-wide DNA methylation (DNAm) data for 187 individuals with OGID and 969 control subjects, we show that pathogenic variants in EZH2 generate a highly specific […]