Giuseppe Testa
- Head of Neurogenomics
- Research Group Leader, Testa Group
Giuseppe Testa, MD, PHD, MA, is a professor of Molecular Biology at Milan’s Università Statale and Director of the High Definition Disease Modelling Lab: Stem Cell and Organoid Epigenetics at the European Institute of Oncology. At Human Technopole, Prof. Testa leads the Neurogenomics centre of the research programme in collaboration with the Università Statale in Milan. The programme studies the molecular mechanisms underlying intellectual disabilities and autism.
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Publications
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06/2020 - Molecular Autism
Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD
Patients diagnosed with chromosome microdeletions or duplications, known as copy number variants (CNVs), present a unique opportunity to investigate the relationship between patient genotype and cell phenotype. CNVs have high genetic penetrance and give a good correlation between gene locus and patient clinical phenotype. This is especially effective for the study of patients with neurodevelopmental […]
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04/2020 - Clinical Genetics
A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability
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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 […]
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01/2020 - Environment International
Statement on advancing the assessment of chemical mixtures and their risks for human health and the environment
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