Flora Maria Vaccarino

This study characterizes somatic mutations in urine-derived iPSCs, showing they reflect age-related genomic changes and can trace developmental lineages non-invasively.

The paper uses single-cell DNA sequencing to analyze somatic mosaicism in postmortem lung and colon tissues, revealing mutation heterogeneity, chromosomal abnormalities, and cellular ancestry.

This study uses single-cell whole genome amplification to link somatic mutations to cell identity and ancestry in a live donor.

The temporal analysis of gene regulatory networks in human neural stem cells reveals multiple early critical phases associated with cortical disorders and neuropsychiatric traits.

The paper traces germline origin in humans using post-zygotic mutations, finding a balanced 50:50 lineage allocation from the first two blastomeres across generations.

The paper evaluates deconvolution methods on human brain data, finding dtangle and bMIND perform best, and identifies decon-eQTLs that explain more schizophrenia heritability than bulk or single-cell eQTLs.

This study uses morphogen gradients in organoids to generate human brain neuronal lineages and identifies interindividual variability in response to these signals.

This study uses single-cell transcriptomics to show reduced interneurons and microglia activation in TS basal ganglia, linking gene expression changes to impaired striatal function.

The paper uses MPRA in forebrain organoids to validate enhancer activity in early human neurodevelopment, identifying over 2,300 enhancers with temporal-specific activity.

The paper constructs an enhancer-driven gene regulatory network from human forebrain organoids with ASD and neurotypical controls, identifying key regulators of excitatory neuron specification in macrocephalic ASD.

The paper shows that clonally selected CRISPR-edited cell lines acquire many culture-specific mutations, making them non-isogenic, and recommends comparing multiple edited and unedited line mixes.

All2 filters mosaic mutations from multi-cell comparisons by classifying variants as germline, mosaic, or false positive, improving sensitivity and reducing false positives in whole genome and exome analysis.

The paper models ASD in organoids and finds transcriptomic imbalances in excitatory cortical neuron subtypes during early neurogenesis in ASD probands.

This study identifies somatic SNVs in non-cancerous human brain tissues and establishes best practices for detecting low-frequency variants.

The paper tracks cell lineages in humans using post-zygotic mutations and finds lineage imbalance and correlations with developmental axes.

The paper introduces a machine learning method to detect somatic L1 insertions in human brain tissue, revealing their widespread distribution in neurons and glia and potential role in neuropsychiatric diseases.