Giovanna Ambrosini

The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.

This study identifies DNA binding motifs for 98 human transcription factors using meSMiLE-seq, revealing methylation-sensitive binding preferences for some TFs.

The paper uses GHT-SELEX to show many human TFs have high intrinsic sequence specificity and complex DNA binding, often matching in vivo ChIP-seq results.

The paper develops a human urothelial organoid model to study urine-urothelium interactions in UTI resilience and UPEC recurrence, finding that high-solute urine weakens tissue and promotes CWD UPEC formation.

This study investigates how chromatin accessibility and PIF7 binding regulate shade-responsive gene expression in Arabidopsis under short and prolonged shade exposure.

The paper evaluates cross-platform DNA motif discovery tools using 4,237 experiments to identify reliable transcription factor binding motifs and highlights challenges in motif detection.

LOX inhibition disrupts a collagen-integrin-MYC axis in ILC, halting tumor growth and metastasis with minimal toxicity, offering a new therapeutic strategy.

This study repairs a harmful mutation in a tomato gene using base editing, resulting in plants with compact growth and earlier fruit yield.

The paper systematically determines the sequence specificity of 332 poorly characterized human transcription factors, identifying over 4,000 experiments and revealing tens of thousands of new TF binding sites.

This study investigates the role of CcrM-mediated DNA methylation in genome maintenance in Agrobacterium tumefaciens, showing its impact on replication and cell cycle regulation.

The paper identifies variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.

The paper combines regulatory element activity, gene expression, and genetic variation data across cell types to show how chromatin structure influences regulatory networks and genetic effects.