Publicacións en colaboración con investigadores/as de Leiden University Medical Center (19)

2021

  1. Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019

    Familial Cancer, Vol. 20, Núm. 1, pp. 67-73

2020

  1. Monoallelic NTHL1 Loss-of-Function Variants and Risk of Polyposis and Colorectal Cancer

    Gastroenterology

2019

  1. Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

    Cancer Cell, Vol. 35, Núm. 2, pp. 256-266.e5

2018

  1. Erratum: Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia (British Journal of Cancer (2017) 117 (1215-1223) DOI: 10.1038/bjc.2017.240)

    British Journal of Cancer

2017

  1. Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

    British Journal of Cancer, Vol. 117, Núm. 6, pp. 876-884

  2. 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. Correspondence: SEMA4A variation and risk of colorectal cancer

    Nature Communications

2015

  1. Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents

    Gastroenterology, Vol. 149, Núm. 4, pp. 1017-1029.e3

  2. Recurrent Coding Sequence Variation Explains only A Small Fraction of the Genetic Architecture of Colorectal Cancer

    Scientific Reports, Vol. 5

2014

  1. Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: Results from a multi-centric study

    PLoS ONE, Vol. 9, Núm. 1

  2. Correction: Association between CASP8 -652 6N del polymorphism (rs3834129) and colorectal cancer risk: Results from a multi-centric study (PLoS ONE)

    PLoS ONE

  3. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: Suggestions of the European consortium 'Care for CMMRD' (C4CMMRD)

    Journal of Medical Genetics, Vol. 51, Núm. 6, pp. 355-365

  4. Re: Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis

    Journal of the National Cancer Institute

  5. The MLH1c.1852-1853delinsGC (p.K618A) variant in colorectal cancer: Genetic association study in 18,723 individuals

    PLoS ONE, Vol. 9, Núm. 4

2013

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

    PLoS ONE, Vol. 8, Núm. 9

2012

  1. Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13

    Human Molecular Genetics, Vol. 21, Núm. 4, pp. 934-946

2010

  1. COGENT (COlorectal cancer GENeTics): An international consortium to study the role of polymorphic variation on the risk of colorectal cancer

    British Journal of Cancer, Vol. 102, Núm. 2, pp. 447-454

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

  2. Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

    Human Molecular Genetics, Vol. 17, Núm. 23, pp. 3720-3727