Associated Papers
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
40620702 (PubMed )
Supplement: Supplementaryfile1.XLSX › Blad1
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Hardcastle A et al.
American Journal of Medical Genetics. Part A, 2022
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
Frisk S et al.
Molecular Genetics & Genomic Medicine, 2022
Missense variant contribution to USP9X-female syndrome.
Jolly LA et al.
Npj Genomic Medicine, 2020
33298948 (PubMed )
Supplement: 41525_2020_162_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
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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