Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1Bart Appelhof, Rami Abou Jamra, Timo Roser et al.|European Journal of Human Genetics|2020Cited by 30
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndromeSusan M. White, Kristin D. Kernohan, Elizabeth Bhoj et al.|The American Journal of Human Genetics|2021Cited by 16