Publicacións en colaboración con investigadores/as de Hospital Clinic Barcelona (13)

2023

  1. Germline mutations in WNK2 could be associated with serrated polyposis syndrome

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 557-567

2020

  1. Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility

    Journal of Medical Genetics, Vol. 57, Núm. 10, pp. 677-682

2018

  1. Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis

    Journal of Genetics and Genomics

2017

  1. POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer

    Oncotarget, Vol. 8, Núm. 16, pp. 26732-26743

2016

  1. The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer

    European Journal of Human Genetics, Vol. 24, Núm. 10, pp. 1501-1505

2015

  1. A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS

    Gut, Vol. 64, Núm. 1, pp. 111-120

  2. Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer

    Genetics in Medicine, Vol. 17, Núm. 2, pp. 131-142

2013

  1. Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility

    PLoS ONE, Vol. 8, Núm. 9

2012

  1. COGENT (COlorectal cancer GENeTics) revisited

    Mutagenesis, Vol. 27, Núm. 2, pp. 143-151

2009

  1. Association of MUTYH and MSH6 germline mutations in colorectal cancer patients

    Familial Cancer, Vol. 8, Núm. 4, pp. 525-531

  2. Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: A different spectrum of mutations?

    BMC Medical Genetics, Vol. 10

2008

  1. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

    Nature Genetics, Vol. 40, Núm. 5, pp. 623-630

2007

  1. Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer

    Carcinogenesis, Vol. 28, Núm. 8, pp. 1687-1691