Henry Oppermann

The paper uses nanopore sequencing to accurately phase a heterozygous deletion in the IKBKG gene in an IP family, confirming its location and X-inactivation status.

This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.

This study shows that early exome sequencing in a German cohort of 111 individuals with rare neurodevelopmental disorders reduces diagnostic costs and time by avoiding unnecessary tests.