Patrick Nitschké

CNVxplorer is a web tool that improves CNV interpretation in rare disease patients by integrating clinical, genomic, and epigenomic features to enhance diagnostic accuracy.

This study identifies MINPP1 mutations as a cause of Pontocerebellar Hypoplasia, showing that MINPP1 deficiency leads to IP6 accumulation and cation chelation, disrupting brain development.

The paper identifies a multi-hit genomic architecture for ASD in consanguineous families, involving FEZF2 deletions and mutations in high-risk genes.