Publicaciones en colaboración con investigadores/as de Hospital for Sick Children (9)

2023

  1. Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability

    Cell, Vol. 186, Núm. 22, pp. 4898-4919.e25

2017

  1. CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy

    American Journal of Human Genetics, Vol. 100, Núm. 3, pp. 488-505

2016

  1. Absence of MutSβ leads to the formation of slipped-DNA for CTG/CAG contractions at primate replication forks

    DNA Repair, Vol. 42, pp. 107-118

2011

  1. Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues

    Human Molecular Genetics, Vol. 20, Núm. 1, pp. 1-15

  2. Identification of restriction endonucleases sensitive to 5-cytosine methylation at non-CpG sites, including expanded (CAG)n/(CTG)n repeats

    Epigenetics, Vol. 6, Núm. 4, pp. 417-421

  3. Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues

    Journal of Medical Genetics, Vol. 48, Núm. 7, pp. 438-443

2010

  1. Repeat instability as the basis for human diseases and as a potential target for therapy

    Nature Reviews Molecular Cell Biology, Vol. 11, Núm. 3, pp. 165-170

  2. Tissue-and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus

    Nature Structural and Molecular Biology, Vol. 17, Núm. 9, pp. 1079-1087

2009

  1. CTG/CAG repeat instability is modulated by the levels of human DNA ligase I and its interaction with proliferating cell nuclear antigen. A distinction between replication and slipped-DNA repair

    Journal of Biological Chemistry, Vol. 284, Núm. 39, pp. 26631-26645