Publicacións en colaboración con investigadores/as de Hospital Clinic Barcelona (23)

2023

  1. A crowdsourcing database for the copy-number variation of the Spanish population

    Human Genomics, Vol. 17, Núm. 1

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

    Nature

2022

  1. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

    Clinical genetics, Vol. 101, Núm. 5-6, pp. 481-493

  2. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

2021

  1. Long runs of homozygosity are associated with Alzheimer’s disease

    Translational Psychiatry, Vol. 11, Núm. 1

2020

  1. Genetic variants of uncertain significance: How to match scientific rigour and standard of proof in sudden cardiac death?

    Legal Medicine, Vol. 45

2019

  1. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

    Alzheimer's and Dementia, Vol. 15, Núm. 10, pp. 1333-1347

2017

  1. Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

    Nature Communications, Vol. 8

2016

  1. Comprehensive molecular testing in patients with high functioning autism spectrum disorder

    Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, Vol. 784-785, pp. 46-52

  2. Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia

    Translational Psychiatry, Vol. 6, Núm. 3

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. Exome-wide pharmacogenomic analysis of response to thiopurines in inflammatory bowel disease patients

    Current Pharmacogenomics and Personalized Medicine, Vol. 13, Núm. 1, pp. 61-67

  3. Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

    Human Molecular Genetics, Vol. 24, Núm. 5, pp. 1478-1492

  4. Prevalence of somatic mutl homolog 1 promoter hypermethylation in Lynch syndrome colorectal cancer

    Cancer, Vol. 121, Núm. 9, pp. 1395-1404

  5. 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

2014

  1. Identifying gene-environment interactions in schizophrenia: Contemporary challenges for integrated, large-scale investigations

    Schizophrenia Bulletin, Vol. 40, Núm. 4, pp. 729-736

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. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 150, Núm. 6, pp. 808-816