Associated Papers
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts
Mosaic variegated aneuploidy in development, ageing and cancer.
Malumbres M et al.
Nature Reviews. Genetics, 2024
BUBR1 Pseudokinase Domain Promotes Kinetochore PP2A-B56 Recruitment, Spindle Checkpoint Silencing, and Chromosome Alignment.
Gama Braga L et al.
Cell Reports, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
In silico analysis of deleterious single nucleotide polymorphisms in human BUB1 mitotic checkpoint serine/threonine kinase B gene.
Akhoundi F et al.
Meta Gene, 2016
Molecular causes for BUBR1 dysfunction in the human cancer predisposition syndrome mosaic variegated aneuploidy.
Suijkerbuijk SJ et al.
Cancer Research, 2010
Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: delineation of clinical subtypes.
García-Castillo H et al.
American Journal of Medical Genetics. Part A, 2008
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.
Hanks S et al.
Nature Genetics, 2004
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