Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
Bi-allelic ATG12 variants impair autophagy and cause a neurodevelopmental disorder
James Lambton, Shotaro Asano, Yuxiang Huang…·Robert William Taylor
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.