Kerstin S. Wendt

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.

CRISPR screens in sister chromatid cohesion defective cells reveal PAXIP1-PAGR1 as regulator of chromatin association of cohesin

The paper identifies PAXIP1-PAGR1 as a novel cohesin regulator through CRISPR screens in cohesion defective cells, showing its role in chromatin association of cohesin independent of DNA replication.

RNA polymerase II is required for spatial chromatin reorganization following exit from mitosis

The paper shows RNA polymerase II is necessary for spatial chromatin reorganization after mitosis, as demonstrated by Hi-C and in silico modeling.

MAU2 and NIPBL variants in Cornelia de Lange syndrome reveal MAU2-independent loading of cohesin and uncover a protective mechanism against early truncating mutations in NIPBL

The paper investigates variants in MAU2 and NIPBL in CdLS, showing NIPBL haploinsufficiency as the main cause and revealing a protective mechanism for NIPBL out-of-frame mutations.

The Detailed 3D Multi-Loop Aggregate/Rosette Chromatin Architecture and Functional Dynamic Organization of the Human and Mouse Genomes

This paper describes the 3D chromatin architecture of human and mouse genomes at multiple scales, showing its dynamic organization and co-evolution with DNA sequence.