Publicacións en colaboración con investigadores/as de Leiden University Medical Center (23)

2024

  1. A genome-wide association meta-analysis of all-cause and vascular dementia

    Alzheimer's and Dementia, Vol. 20, Núm. 9, pp. 5973-5995

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

2021

  1. Breast cancer risk genes - Association analysis in more than 113,000 women

    New England Journal of Medicine, Vol. 384, Núm. 5, pp. 428-439

2019

  1. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    Nature Communications, Vol. 10, Núm. 1

  2. Genome-wide association study of germline variants and breast cancer-specific mortality

    British Journal of Cancer, Vol. 120, Núm. 6, pp. 647-657

2017

  1. Association analysis identifies 65 new breast cancer risk loci

    Nature, Vol. 551, Núm. 7678, pp. 92-94

  2. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

  3. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

    American Journal of Human Genetics

2016

  1. Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing

    Scientific Reports, Vol. 6

2015

  1. 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. 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

  2. Transcriptome and genome sequencing uncovers functional variation in humans

    Nature, Vol. 501, Núm. 7468, pp. 506-511

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

2001

  1. DNA Commission of the International Society of Forensic Genetics: Recommendations on forensic analysis using Y-chromosome STRs

    Forensic Science International, Vol. 124, Núm. 1, pp. 5-10