Vincent Strehlow

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

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.

The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.

The paper identifies a novel syndrome caused by the gain-of-function variant p.Glu1099Lys in NSD2, leading to distinct clinical features compared to loss-of-function variants.

The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.