Zehra Oya Uyguner

Rare bi-allelic loss-of-function variants in the LRRK2 kinase cause interstitial lung disease

This study identifies biallelic LRRK2 loss-of-function variants as a cause of interstitial lung disease, showing reduced LRRK2 protein and impaired lung function in affected individuals.

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities

Unbiased association and expression studies identify novel genes for tooth development

The paper identifies novel genes for tooth development by associating CRC risk variants with tooth agenesis and showing gene expression in developing teeth.