Marie Falkenberg Smeland

Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder

The paper identifies bi-allelic ATG12 variants causing a neurodevelopmental disorder by impairing autophagy, with clinical and functional evidence from patient cells, yeast, and zebrafish models.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

The paper identifies variant-specific effects of AFF3 on transcriptome profiles through analysis of patient cohorts and zebrafish models, showing distinct pathophysiological mechanisms for different types of AFF3 variants.

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP

The paper identifies novel VCP variants causing a childhood-onset neurodevelopmental disorder through exome sequencing and functional analysis.