Georg Christoph Korenke

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

The paper identifies biallelic variants in RNU4-2 causing a recessive neurodevelopmental syndrome with distinct white matter changes, expanding the known genotypic and phenotypic spectrum of RNU4-2-related disorders.

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

Aberrant DEGS1 sphingolipid metabolism impairs central and peripheral nervous system function in humans

This study identifies a DEGS1 mutation causing sphingolipid metabolism defects, leading to neurological disorders and suggests dietary intervention as a potential treatment.