Irena J J Muffels

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.

M. Lequin, M. Mokry, E. Nieuwenhuis, 2023, American journal of human genetics.

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay

D. Vertommen, H. Rehmann, E. Van Schaftingen, 2021, Brain communications.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.