Cristina Montagna

This study shows hypoxia promotes metastasis in pancreatic cancer by suppressing Kdm8, leading to epigenetic and transcriptomic changes, increased chromosomal instability, and metastatic disease.

This paper introduces BaySeq-Y, a Bayesian method to directly quantify mosaic loss of chromosome Y from sequencing data, showing improved accuracy over existing methods.

This study shows septins buffer actomyosin forces to protect the nucleus from mechanical stress during migration and in non-migrating cells, with SEPT9 amplification linked to reduced genomic damage and higher mortality in breast cancer.

The paper uses genomic tools to analyze HPV-human DNA integration structures in a cancer cell line, revealing complex intrachromosomal and extrachromosomal architectures.

This study shows that the KU70 SAP domain is essential for repairing exogenous DNA damage but not for V(D)J recombination or development.

The paper examines aneuploidy in non-neuronal brain nuclei of GBM patients and finds it is common in normal tissue and not associated with GBM risk.

The paper develops a tool to detect viral integrations in human genomes and applies it to over 30,000 tumor samples, identifying virus-human chimeric transcripts and insertion hotspots.

This study shows that polymerase Eta's PIP and UBZ domains are critical for managing replication stress at common fragile sites by recruiting FANCD2 and preventing DNA damage.

This paper introduces SMM-SV-seq, a method to detect rare somatic structural-variant breakpoints in bulk DNA with high precision and recall, validated using human and Drosophila DNA mixtures and clinical treatments.

This study uses single-cell whole-genome sequencing to compare mutation burdens in early passage and deeply senescent human fibroblasts, finding increased single-nucleotide variations and aneuploidies in senescent cells.

Aneuvis is a web tool that quantifies numerical chromosomal variation in single cells and compares it between treatment groups.

The paper develops a statistical method to model transcriptional heterogeneity in breast tumors, identifying CBX2 as an oncogene overexpressed in invasive breast carcinoma and linked to poorer survival.

The paper identifies RNA:DNA hybrids in the human genome, showing they are purine-rich, associated with hypomethylation and heterochromatin domains, and bound by ILF2/ILF3 transcription factors.