Maria Rigau

Global re-organisation of genome architecture at the transition to gametogenesis

This study reveals a unique 3D genome architecture in premeiotic gonadal germ cells, linked to epigenetic reprogramming and loss of TADs, alongside DNA demethylation.

Three-Dimensional Epigenome Roadmap of Human B-cell Differentiation Uncovers Mechanisms of Humoral Immunity and Oncogenesis

This paper creates a 3D epigenomic roadmap of human B-cell differentiation, revealing regulatory mechanisms in immunity and cancer.

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

This paper uses multilayer network analysis to identify molecular determinants of severity in Congenital Myasthenic Syndromes by integrating protein-protein interactions, pathways, and metabolomics data.

Three-dimensional connectivity and chromatin environment mediate the activation efficiency of mammalian DNA replication origins

The paper investigates how 3D chromatin structure and chromatin environment influence DNA replication origin activation efficiency in mouse embryonic stem cells under stress and control conditions.

Intronic CNVs cause gene expression variation in human population

The paper identifies intronic copy number variants (CNVs) as a significant source of gene expression variation in human populations, showing their association with gene expression differences and 3D genomic interactions.