Associated Papers
Missense variant contribution to USP9X-female syndrome.
Jolly LA et al.
Npj Genomic Medicine, 2020
33298948 (PubMed )
Supplement: 41525_2020_162_MOESM1_ESM.pdf
Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder.
Wang L et al.
Molecular Autism, 2020
33023636 (PubMed )
Supplement: 13229_2020_382_MOESM1_ESM.pdf
SFI1 promotes centriole duplication by recruiting USP9X to stabilize the microcephaly protein STIL.
Kodani A et al.
The Journal of Cell Biology, 2019
31197030 (PubMed )
Supplement: JCB_201803041_sm.pdf
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
Reijnders MR et al.
American Journal of Human Genetics, 2016
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