An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathyAlistair T. Pagnamenta, Emma L. Baple, Natalia Dominik et al.|Brain|2020Cited by 55
Two novel bi‐allelic <scp><i>KDELR2</i></scp> missense variants cause osteogenesis imperfecta with neurodevelopmental featuresStéphanie Efthymiou, Henry Houlden, Isabella Herman et al.|American Journal of Medical Genetics Part A|2021Cited by 18
Mutations in<i>TAF8</i>cause a neurodegenerative disorderKeit Men Wong, Peter Huppke, Wayne M. Jepsen et al.|Brain|2022Cited by 9