Here is the complete list of publications from the lab divided by themes, with the most relevant publications pinned and explained

Neuro development	Endocrine disruptors	Cancer
Covid-19	Evolution	Epigenetics
Methods	Atlases	STS

• 📌 GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disorders. López-Tobón et al., Science Advances. https://doi.org/10.1126/sciadv.adh2726
  This paper shows for the first time brain organoids developmental trajectories as clinically relevant phenotypes that ground novel pharmacological approaches to rescue in vivo the core manifestations of autism spectrum disorders.

• 📌 From cohorts to molecules: Adverse impacts of endocrine disrupting mixtures. Caporale et al., Science. https://doi.org/10.1126/science.abe8244 [GitHub https://giuseppetestalab.github.io/EDCMixRisk/]
  Associated Perspective https://doi.org/10.1126/science.abn9080
  Here we spearheaded the integration of epidemiology and experimental biology to probe the impact of real-life endocrine disruptive chemicals (EDC) mixtures on human neurodevelopment, pioneering the use of brain organoids for regulatory toxicology and thereby unraveling convergent vulnerability mechanisms across genetic and environmental factors with profound policy implications.

• 📌 A cell-of-origin epigenetic tracer reveals clinically distinct subtypes of high-grade serous ovarian cancer. Lo Riso et al., Genome Medicine. https://doi.org/10.1186/s13073-020-00786-7 [GitHub https://github.com/GiuseppeTestaLab/CellOfOrigin]
  This is the first demonstration based on epigenetic tracing of the dual origin in humans of high grade serous ovarian cancer (HGSOC). Stratification of HGSOC based on our DNA methylation-based signature OriPrint revealed a worse prognosis for ovarian surface-derived tumors, coupled to distinct transcriptional features associated with immune suppression and increased aggressiveness.

• 📌 RAGE engagement by SARS-CoV-2 enables monocyte infection and underlies COVID-19 severity. Angioni et al., Cell Reports Medicine. https://doi.org/10.1016/j.xcrm.2023.101266 [GitHub https://github.com/GiuseppeTestaLab/covid19-RAGE]
  This work identified RAGE (receptor for advanced glycation endproducts) as a functional receptor of SARS-CoV-2 infection of monocytes contributing to COVID-19 severity.

• 📌 Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication. Zanella et al., Science Advances. https://doi.org/10.1126/sciadv.aaw7908
  This provides the first experimental demonstration of human self-domestication by integrating neurodevelopmental disease modelling with paleogenomics as a new interdisciplinary research program across modern human evolution and developmental biology.

• 📌 High resolution multi-scale profiling of embryonic germ cell-like cells derivation reveals pluripotent state transitions in humans. Stucchi et al. BiorXiv 2025 https://doi.org/10.1101/2025.01.14.632914 [GitHub https://github.com/GiuseppeTestaLab/EGCLC_paper_release]
  We describe the first fully defined, feeder-free culture system for the efficient derivation of human embryonic germ-cell like cells (hEGCLCs) from human primordial germ cell-like cells (hPGCLCs) and leverage this novel protocol to define the molecular underpinnings of human pluripotent transitions by longitudinal multi-omic profiling, establishing a key resource to study the genetic and environmental factors involved in germ cells physiopathology and the epigenetic dynamics unfolding through their cycle.
  

• 📌 States of representation: Reading Europe through its genomes. Caporale et al. Edward Elgar Publishing. https://www.elgaronline.com/edcollchap/book/9781800886629/chapter5.xml
  In this book chapter, we examine Europe's 1+ Million Genomes initiative to reveal how genomic science and political representation are deeply intertwined, showing that the seemingly technical task of sequencing genomes embodies specific normative and political commitments. Through comparison with similar projects in the United States and United Kingdom, we demonstrate how the EU's political fragmentation shapes, and is further shaped by, the heterogeneous collection and analysis of genomic data. Ultimately, we argue that the initiative's success depends on adopting a more reflexive approach that explicitly acknowledges the social and political dimensions of genetic diversity.

• 📌 Multiplexing cortical brain organoids for the longitudinal dissection of developmental traits at single cell resolution. Caporale et al., Nature Methods. https://doi.org/10.1038/s41592-024-02555-5. [GitHub: https://github.com/GiuseppeTestaLab/organoidMultiplexing_release, https://github.com/GiuseppeTestaLab/SCanSNP]
  Associated Research Briefing https://doi.org/10.1038/s41592-024-02556-4
  In this study we developed and benchmarked strategies to multiplex human brain organoids and introduced SCanSNP—an in silico deconvolution tool integrated into a consensus pipeline. We provide this suite of methods as enabling resource to advance high-throughput brain organoid modeling for studying human neurodiversity and paving the way to in vitro epidemiology by the cohort-level dissection of eDTL (expressed Developmental Trait Loci).

• 📌 A harmonized ovarian cancer scRNA-seq atlas to dissect disease heterogeneity underlying metastatization and chemoresistance Sallese et al., Biorxiv.https://doi.org/10.1101/2025.02.11.637633
  This article describes the first comprehensive single cell transcriptomics atlas (OvCA) for high grade serous tubo-ovarian cancer. e generated an ad hoc strategy for feature selection and data integration (Single Cell Atlas Integration Pipeline – SCAIP) that is able to capture patient and sample variability in highly heterogeneous datasets, while being expandable with newly generated datasets. We offer it to the community a foundational resource for the dissection of the molecular mechanisms underlying ovarian cancer pathogenesis.