Petr Nickl

De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.

The paper identifies de novo EHMT2 variants causing an autosomal dominant Kleefstra syndrome by impairing G9a methyltransferase activity, mimicking EHMT1 haploinsufficiency.

Adeno-Associated Virus Co-Precipitation with Extracellular Vesicles for Genome Editing in Rodent Embryo

This paper describes a method to co-isolate AAV with extracellular vesicles for efficient genome editing in rodent embryos, achieving higher viability and targeting efficiency compared to traditional purification methods.

FAM83H regulates postnatal T cell development through thymic stroma organization

This study shows that FAM83H is essential for thymic stroma organization and T cell development, as its deficiency leads to impaired thymic architecture and reduced T cell production.