Theresia Herget

The paper identifies RNU2-2 variants as a frequent cause of neurodevelopmental disorders, both dominant and recessive, in a large cohort of individuals with rare disorders.

This study compares trio, singleton, and standard genome sequencing in rare disease diagnosis, finding trio sequencing has the highest diagnostic yield.

The paper evaluates a structured diagnostic framework for ultra-rare diseases, showing improved genetic diagnoses and novel gene-disease associations using exome sequencing and AI tools.