Publicacións en colaboración con investigadores/as de Hospital Ramón y Cajal (12)

2023

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

    Nature

2021

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

    Translational Psychiatry, Vol. 11, Núm. 1

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

2016

  1. Identification of a novel susceptibility locus at 13q34 and refinement of the 20p12.2 region as a multi-signal locus associated with bladder cancer risk in individuals of european ancestry

    Human Molecular Genetics, Vol. 25, Núm. 6, pp. 1203-1214

2015

  1. Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types

    Journal of the National Cancer Institute, Vol. 107, Núm. 12

  2. Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

    Cerebellum

2014

  1. Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

    Clinical Genetics, Vol. 85, Núm. 2, pp. 154-158

  2. Genome-wide association study identifies multiple loci associated with bladder cancer risk

    Human Molecular Genetics, Vol. 23, Núm. 5

  3. Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33

    Human Molecular Genetics, Vol. 23, Núm. 24, pp. 6616-6633

  4. The 19q12 bladder cancer GWAS signal: Association with cyclin E function and aggressive disease

    Cancer Research, Vol. 74, Núm. 20, pp. 5808-5818

2012

  1. Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

    Human Mutation, Vol. 33, Núm. 9, pp. 1315-1323

2010

  1. A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci

    Nature Genetics, Vol. 42, Núm. 11, pp. 978-984