Publicacións en colaboración con investigadores/as de Hospital Universitario La Fe (19)

2024

  1. Clinical and Genetic Analysis of Patients With TK2 Deficiency

    Neurology: Genetics, Vol. 10, Núm. 2

2023

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

    Human Genomics, Vol. 17, Núm. 1

  2. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

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. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  2. 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

2017

  1. Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection

    International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219

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

  2. Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

    Breast Cancer Research and Treatment, Vol. 132, Núm. 1, pp. 307-315

2011

  1. A two-phase case-control study for colorectal cancer genetic susceptibility: Candidate genes from chromosomal regions 9q22 and 3q22

    British Journal of Cancer, Vol. 105, Núm. 6, pp. 870-875

  2. Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome

    BMC Medical Genetics, Vol. 12

2010

  1. Colorectal cancer susceptibility quantitative trait loci in mice as a novel approach to detect low-penetrance variants in humans: A two-stage case-control study

    Cancer Epidemiology Biomarkers and Prevention, Vol. 19, Núm. 2, pp. 619-623

  2. Single nucleotide polymorphisms in the wnt and bmp pathways and colorectal cancer risk in a spanish cohort

    PLoS ONE, Vol. 5, Núm. 9, pp. 1-9

  3. Susceptibility genetic variants associated with colorectal cancer risk correlate with cancer phenotype

    Gastroenterology, Vol. 139, Núm. 3

  4. The genomics serving pediatrics in the investigation of the multifactorial disease

    Acta Pediatrica Espanola, Vol. 68, Núm. 2, pp. 55-60

2009

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

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