Associated Papers
Mosaic variegated aneuploidy in development, ageing and cancer.
Malumbres M et al.
Nature Reviews. Genetics, 2024
Generation and characterization of two isogenic induced pluripotent stem cell lines from a young female with microcephaly carrying a compound heterozygous mutation in BUB1 gene.
Ferreira A et al.
Stem Cell Research, 2024
Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
Carvalhal S et al.
Science Advances, 2022
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