Ralf Kühn

This paper establishes new disease models for SynGAP1-related disorder using patient-derived hiPSCs and humanized knock-in mice to study the effects of a SYNGAP1 nonsense mutation.

The paper develops new mouse reporter models to detect genome editing events in vivo, including gene repair and CRISPR indels, and A-base editor activity.

The paper identifies 3D regulatory hubs involved in sex determination using spatial auto-correlation analysis in mouse embryos.

This paper develops CancerPAM, a bioinformatics pipeline for identifying CRISPR knock-in sites to remodel the tumor microenvironment, enhancing CAR T cell therapy in solid tumors.

This study shows that mutant Huntingtin causes neurodevelopmental issues in human brain organoids by disrupting CHCHD2, leading to mitochondrial and metabolic problems.

This study uses CRISPR to correct a dysferlin mutation in muscle stem cells, rescuing protein function and improving muscle regeneration in a mouse model.

The paper identifies and characterizes Prox2+ and Runx3+ vagal sensory neurons and shows their essential roles in esophageal peristalsis and swallowing.

The paper identifies primate-specific CAMK2B splice variants regulated by branch point weakening, showing their role in long-term potentiation and learning.

The paper investigates how clustered-CTCF boundaries function in vivo, showing that individual CTCF sites can override other factors and that insulation strength modulates gene expression and phenotypes.

The paper reports the generation of over 5,000 new mouse mutant strains for targeted genes, significantly expanding the available genetic resources for biomedical research.

This study shows SURF1 mutations impair human neurogenesis by generating patient-derived iPS cells and demonstrating defects in neuronal differentiation and bioenergetics.

This paper introduces a CRISPR-based method to replace genomic segments without homology, achieving exon replacement in 16-54% of cells.