Fatima Rahman

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.

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

De Novo Mutation in an Enhancer of EBF3 in simplex autism

Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.