Diana C. J. Spierings

This study characterizes tertiary lymphoid structures in endometrial cancer using multi-level transcriptomics, identifying transcriptional signatures and immune cell dynamics linked to ICI response.

This study shows that BTRR complex deficiency increases genomic instability through copy number alterations, enriched at fragile sites, using CRISPR-edited iPSC models.

This study identifies four subgroups of osteosarcomas based on genomic and transcriptomic analysis, revealing distinct mechanisms of CDK4 amplification in relation to MDM2 or TP53 alterations.

The paper tracks genome evolution in single-cell clones to reveal copy number alteration rates and features in cancer driven by chromosomal instability.

The paper investigates the effects of chronic SAC activation in mice, finding it causes bone marrow aplasia and intestinal atrophy, with BIM playing a critical role in gastrointestinal cell death.

This study uses tunable DNMT1 degradation to investigate DNA methylation dynamics and genome organization, revealing cooperative roles of DNMT1 and DNMT3B and their impact on heterochromatin and cell fitness.

Sperm DNA damage leads to genomic defects in embryos through chromosome fragmentation and segregation errors.

This study compares HiFi and CLR long-read sequencing for human genome assembly, finding HiFi provides better continuity and accuracy in complex regions but not centromeres or segmental duplications.

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

This study uses single-cell DNA sequencing to identify distinct molecular types of basal cell carcinoma based on karyotype heterogeneity and associated transcriptome features.

This study uses Strand-seq to show that most spontaneous sister chromatid exchanges in yeast are not caused by DNA double-strand breaks.