Bernhard Suter

The paper uses long-read sequencing to identify pathogenic variants in autism cases, finding three pathogenic mutations and nine candidate structural variants missed by short-read sequencing.

The paper identifies a disrupted mitochondrial-purine metabolism link in MECP2 Duplication Syndrome across multiple models, linking it to neurodevelopmental issues.

This study quantifies kinematic gait parameters during treadmill walking in Rett Syndrome patients, showing speed-related adaptations and significant joint asymmetries.