Selected publications
2019
Journal Articles
- Loss of TOP3B leads to increased R-loop formation and genome instability. Open Biology. 9. 2019
Journal Articles Refereed
- A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect. International Journal of Radiation: Oncology - Biology - Physics. 103. 2019
- Effect of MUC1 length polymorphisms on the NLRP3 inflammasome response of human macrophages. Human Immunology. 80. 2019
Journal Articles Unrefereed
- Knocking in Multifunctional Gene Tags into SMC Complex Subunits Using Gene Editing. Methods in Molecular Biology. 2004. 2019
2018
Journal Articles Refereed
- Identification of an Immortalized Human Airway Epithelial Cell Line with Dyskinetic Cilia. American Journal of Respiratory Cell and Molecular Biology. 59. 2018
- Polymyxin B causes DNA damage in HK-2 cells and mice 2018
- Restricted cell cycle is essential for clonal evolution and therapeutic resistance of pre-leukemic stem cells. Nature Communications. 9. 2018
- Ribosomal DNA copy loss and repeat instability in ATRX-mutated cancers. Proceedings of the National Academy of Sciences of the United States of America. 115. 2018
2017
Journal Articles Refereed
- Condensin, master organizer of the genome. Chromosome Research. 25. 2017
- The Role of Centromere Defects in Cancer 2017
2016
Journal Articles Refereed
- Active centromere and chromosome identification in fixed cell lines. Molecular Cytogenetics. 9. 2016
- Condensin I and II behaviour in interphase nuclei and cells undergoing premature chromosome condensation. Chromosome Research. 24. 2016
- Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome. PLoS Genetics. 12. 2016
2015
Research Book Chapters
- Centromeres in health, disease and evolution. Genomic Elements in Health, Disease and Evolution: Junk DNA. 2015
Journal Articles Refereed
- Activation by zinc of the human gastrin gene promoter in colon cancer cells in vitro and in vivo. Metallomics: integrated biometal science. 7. 2015
- Contribution of the Two Genes Encoding Histone Variant H3.3 to Viability and Fertility in Mice. PLoS Genetics. 11. 2015
- Disruption of a Conserved CAP-D3 Threonine Alters Condensin Loading on Mitotic Chromosomes Leading to Chromosome Hypercondensation. Journal of Biological Chemistry. 290. 2015
2014
Journal Articles Refereed
- Chromosome Y Centromere Array Deletion Leads to Impaired Centromere Function. PLoS One. 9. 2014
Conference Proceedings
- The Role of Centromere Defects in Cancer Formation and Progression. Molecular Biology of the Cell. 2014
2013
Journal Articles Refereed
- Condensin I associates with structural and gene regulatory regions in vertebrate chromosomes. Nature Communications. 4. 2013
2012
Journal Articles
- Mitotic map of condensin I in vertebrate cells.. Molecular Biology of the Cell. 23. 2012
Journal Articles Refereed
- Contrasting roles of condensin I and condensin II in mitotic chromosome formation. Journal of Cell Science. 125. 2012
- Normal DNA Methylation Dynamics in DICER1-Deficient Mouse Embryonic Stem Cells. PLoS Genetics. 8. 2012
- The evolutionary life cycle of the resilient centromere. Chromosoma. 121. 2012
2010
Journal Articles
2009
Journal Articles Refereed
- Inherent promoter bidirectionality facilitates maintenance of sequence integrity and transcription of parasitic DNA in mammalian genomes. BMC Genomics. 10. 2009
- Rapid evolution of mouse Y centromere repeat DNA belies recent sequence stability. Genome Research. 19. 2009
- Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism. Clinical Genetics. 76. 2009
Other Refereed Contribution to Refereed Journals
- Orchestrating Twosome and Foursome Chromosome Parties. Developmental Cell. 17. 2009
2008
Journal Articles
Journal Articles Refereed
2007
Conference Proceedings
- Identification and characterisation of a novel chromatin modifying protein. Chromosome Research. 2007
2006
Journal Articles Refereed
- Mouse telocentric sequences reveal a high rate of homogenization and possible role in Robertsonian translocation. Proceedings of the National Academy of Sciences of the United States of America. 103. 2006
2005
Journal Articles Refereed
- Increased chromosome instability but not cancer predisposition in haploinsufficient Bub3 mice. Genes, Chromosomes & Cancer. 44. 2005
- Spef1, a conserved novel testis protein found in mouse sperm flagella. Gene. 353. 2005
2004
Other Refereed Contribution to Refereed Journals
- Building the centromere: from foundation proteins to 3D organization. Trends in Cell Biology. 14. 2004
2003
Journal Articles Refereed
2002
Journal Articles Refereed
- Centromere proteins Cenpa, Cenpb, and Bub3 interact with poly(ADP-ribose) polymerase-1 protein and are poly(ADP-ribosyl)ated. Journal of Biological Chemistry. 277. 2002
- Poly(ADP-ribose) polymerase 2 localizes to mammalian active centromeres and interacts with PARP-1, Cenpa, Cenpb and Bub3, but not Cenpc. Human Molecular Genetics. 11. 2002
2001
Journal Articles
- A 330 kb CENP-A binding domain and altered replication timing at a human neocentromere. EMBO Journal. 20. 2001
- A novel chromatin immunoprecipitation and array (CIA) analysis identifies a 460-kb CENP-A-binding neocentromere DNA. Genome Research. 11. 2001
2000
Journal Articles
- Assignment of the Centromere Protein H (Cenph) gene to mouse chromosome band 13D1 by in situ hybridization and interspecific backcross analyses. Cytogenetics and Cell Genetics. 90. 2000
- Bub3 gene disruption in mice reveals essential mitotic spindle checkpoint function during early embryogenesis. Genes & Development. 14. 2000
- Components of the human spindle checkpoint control mechanism localize specifically to the active centromere on dicentric chromosomes. Human Genetics. 107. 2000
- Early disruption of centromeric chromatin organization in centromere protein A (Cenpa) null mice. Proceedings of the National Academy of Sciences of the United States of America. 97. 2000
- Human centromeres and neocentromeres show identical distribution patterns of > 20 functionally important kinetochore-associated proteins. Human Molecular Genetics. 9. 2000
1999
Journal Articles
- Conservation of centromere proteins in vertebrates. Chromosome Research. 7. 1999
- Defective chromosome segregation, microtubule bundling and nuclear bridging in inner centromere protein gene (Incenp)-disrupted mice. Human Molecular Genetics. 8. 1999
- Mouse mitotic spindle checkpoint Bub3 gene maps to the distal region of Chromosome 7 by interspecific backcross analysis. Cytogenetics and Cell Genetics. 87. 1999
- Trisomy 20p resulting from inverted duplication and neocentromere formation. American Journal of Medical Genetics. 85. 1999
Conference Proceedings
- Trisomy 20p resulting from inverted duplication and neocentromere formation. American Journal of Medical Genetics. 1999
1998
Journal Articles
- Centromere protein B null mice are mitotically and meiotically normal but have lower body and testis weights. Journal of Cell Biology. 141. 1998
- Gene structure and sequence analysis of mouse centromere proteins A and C. Genomics. 47. 1998
- Targeted disruption of mouse centromere protein C gene leads to mitotic disarray and early embryo death. Proceedings of the National Academy of Sciences of the United States of America. 95. 1998
1997
Journal Articles
- A functional neo-centromere formed through activation of a latent human centromere and consisting of non-alpha-satellite DNA. Nature Genetics. 16. 1997
- Chromosomal localization of mouse Cenpa gene. Cytogenetics and Cell Genetics. 79. 1997
1994
Journal Articles
- A NOVEL NUCLEAR-PROTEIN BINDS CENTROMERIC ALPHA-SATELLITE DNA. Human Molecular Genetics. 3. 1994
1993
Journal Articles
1992
Journal Articles
- A CHROMOSOME-14-SPECIFIC HUMAN SATELLITE-III DNA SUBFAMILY THAT SHOWS VARIABLE PRESENCE ON DIFFERENT CHROMOSOMES-14. American Journal of Human Genetics. 50. 1992
- IDENTIFICATION OF DNA-SEQUENCES FLANKING THE BREAKPOINT OF HUMAN T(14Q21Q) ROBERTSONIAN TRANSLOCATIONS. American Journal of Human Genetics. 50. 1992
- NONINACTIVATION OF A PORTION OF XQ28 IN A BALANCED X-AUTOSOME TRANSLOCATION. American Journal of Medical Genetics. 42. 1992
1991
Journal Articles
- A SURVEY OF THE GENOMIC DISTRIBUTION OF ALPHA-SATELLITE DNA ON ALL THE HUMAN-CHROMOSOMES, AND DERIVATION OF A NEW CONSENSUS SEQUENCE. Nucleic Acids Research. 19. 1991
- DUPLICATIONS OF THE X-CHROMOSOME IN MALES - EVIDENCE THAT MOST PARTS OF THE X-CHROMOSOME CAN BE ACTIVE IN 2 COPIES. Human Genetics. 86. 1991
- X-CHROMOSOME INACTIVATION IN FIBROBLASTS OF MENTALLY-RETARDED FEMALE CARRIERS OF THE FRAGILE SITE XQ27.3 - APPLICATION OF THE PROBE M27-BETA TO EVALUATE X-INACTIVATION STATUS. American Journal of Medical Genetics. 38. 1991
1990
Journal Articles
1989
Journal Articles
- PLANT RETROTRANSPOSON FROM LILIUM-HENRYI IS RELATED TO TY3 OF YEAST AND THE GYPSY GROUP OF DROSOPHILA. Proceedings of the National Academy of Sciences of the United States of America. 86. 1989