Giuseppe Testa
- Head of Neurogenomics Research Centre, 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 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.
Publications
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06/2020 - Molecular Autism
The sociability spectrum: evidence from reciprocal genetic copy number variations
Sociability entails some of the most complex behaviors processed by the central nervous system. It includes the detection, integration, and interpretation of social cues and elaboration of context-specific responses that are quintessentially species-specific. There is an ever-growing accumulation of molecular associations to autism spectrum disorders (ASD), from causative genes to endophenotypes across multiple functional layers; […]
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06/2020 - Neurosci Insights
KMT2B and Neuronal Transdifferentiation: Bridging Basic Chromatin Mechanisms to Disease Actionability
The role of bona fide epigenetic regulators in the process of neuronal transdifferentiation was until recently largely uncharacterized, despite their key role in the physiological processes of neural fate acquisition and maintenance. In this commentary, we describe the main findings of our recent paper “KMT2B is selectively required for neuronal transdifferentiation, and its loss exposes dystonia candidate […]
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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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