Giuseppe Testa

The paper maps RNA-DNA interactions in 16 human cell types, showing cell-type-specific and dynamic networks that correlate with gene regulation and disease traits.

The paper maps RNA-chromatin interactions in human prefrontal cortex, revealing co-regulatory changes linked to brain evolution and disease pathways.

This paper establishes a defined feeder-free system to convert human PGC-like cells to pluripotent stem cells, tracking transcriptional and epigenomic transitions using multi-omic analysis.

This paper creates a molecular atlas of endocrine signaling in human neural organoids by perturbing seven hormonal pathways and analyzing their effects on neurodevelopment.

MintFlow is a generative AI algorithm that predicts how tissue perturbations reprogram cell states in disease, revealing novel cell populations and therapeutic targets in three human conditions.

The paper longitudinally profiles cerebellar organoids, benchmarks them against fetal data, and models mutations linked to autism and human brain evolution.

The paper uses combinatorial CRISPR-Cas9 perturbations in brain organoids to uncover regulatory hierarchies of human-specific genes involved in cortical evolution.

This study identifies the ADNP-KDM1A-GTF2I complex as critical for neural differentiation balance in HVDAS by repressing transposable elements and regulating gene transcription.

This study investigates how YY1 mutations disrupt corticogenesis by altering transcriptional networks in neural progenitors and neurons, with non-cell-autonomous effects on astrocytes.

This study shows that an EDC mixture linked to lower birth weight increases adipogenesis and induces transcriptomic changes associated with birth weight and diabetes.

This paper develops a novel integration method for highly heterogeneous single-cell transcriptomic data and applies it to high-grade serous ovarian cancer to generate a reference atlas, revealing disease progression and treatment-related cell states.

This study identifies a human-specific CHD2 regulatory variant that influences cortical development tempo via lysosomal homeostasis, showing therapeutic potential through lysosomal restoration.

The paper develops and validates multiplexing strategies for brain organoids combined with single cell RNA-seq to study neurodevelopmental trajectories across multiple genetic lines.

This paper integrates 36 single-cell transcriptomics datasets from human neural organoids into a unified atlas to assess cell type coverage and compare organoid protocols with primary brain tissue.

This study shows that miR-379-410 regulates sociability in mice by inhibiting an actomyosin network, with implications for neurodevelopmental disorders.

The paper curates causal gene-protein interactions linked to autism and develops tools to explore their functional relationships with phenotypes and pathways.

This study shows that GTF2I dosage affects neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders using patient-derived organoids and mouse models.

This study benchmarks brain organoid gene co-expression patterns against fetal corticogenesis to assess their alignment with in vivo development.

This study investigates how 7q11.23 CNVs affect protein synthesis and neuronal excitability in neurodevelopmental disorders using patient-derived neurons and multi-omics approaches.

The paper quantifies ADNP mutation mosaicism across tissues in a post-mortem autistic individual, showing post-zygotic, tissue-specific mutation patterns and ruling out environmental factors.

The paper identifies gene regulatory network disruptions caused by LSD1 mutations in early differentiation, showing impaired transcription factor activity and potential therapeutic targets through HDAC inhibition.

This study shows that KANSL1 deficiency leads to oxidative stress-induced autophagy, causing synaptic dysfunction and neuronal network impairments in neurons.

This study investigates how KMT2D mutations in Kabuki Syndrome disrupt neuronal function through chromatin and transcriptional changes, independent of H3K4me1.

This study shows that CHD8 haploinsufficiency disrupts human cortical development by altering neuron generation timing, leading to macrocephaly-like organoid enlargement and cell-type specific molecular defects.

This study uses human cortical organoids to show that GSK3 inhibition affects progenitor proliferation and tissue architecture, with specific impacts on outer radial glia and astrogenic lineage.

This study develops a method to grow single-cell derived ovarian cancer organoids from patient ascites, which retain key subpopulations and features of the original metastasis not seen in 2D cultures.

This study quantifies genomic, proteomic, and phenotypic variability in HeLa cells across laboratories and passages, revealing implications for research reproducibility.

The paper identifies EDC mixtures linked to adverse health outcomes and shows they disrupt gene regulatory networks in vitro and in vivo.