Publicacións en colaboración con investigadores/as de Hospital Universitario La Fe (34)

2023

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

    Human Genomics, Vol. 17, Núm. 1

  2. CNL and aCML should be considered as a single entity based on molecular profiles and outcomes

    Blood Advances, Vol. 7, Núm. 9, pp. 1672-1681

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

    Nature communications

  4. Genomics improves risk stratifi cation of adults with T-cell acute lymphoblastic leukemia enrolled in measurable residual disease-oriented trials

    Haematologica, Vol. 108, Núm. 4, pp. 969-980

  5. Machine Learning Improves Risk Stratification in Myelofibrosis: An Analysis of the Spanish Registry of Myelofibrosis

    HemaSphere, Vol. 7, Núm. 1, pp. E818

  6. SARS-CoV-2 infection in children with cystic fibrosis: A cross-sectional multicenter study in Spain. New waves, new knowledge

    Pediatric Pulmonology, Vol. 58, Núm. 11, pp. 3195-3205

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

  2. Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)

    Frontiers in Genetics, Vol. 10, Núm. OCT

  3. Novel and recurrent PNPLA1 mutations in spanish patients with autosomal recessive congenital ichthyosis; Evidence of a founder effect

    Acta Dermato-Venereologica, Vol. 99, Núm. 10, pp. 894-898

2017

  1. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

  2. 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

2015

  1. BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study

    Familial Cancer, Vol. 14, Núm. 4, pp. 505-513

  2. Fluorescence in situ hybridization of TP53 for the detection of chromosome 17 abnormalities in myelodysplastic syndromes

    Leukemia and Lymphoma, Vol. 56, Núm. 11, pp. 3183-3188

2013

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

    PLoS ONE, Vol. 8, Núm. 9

  2. Response to lenalidomide in myelodysplastic syndromes with del(5q): Influence of cytogenetics and mutations

    British Journal of Haematology, Vol. 162, Núm. 1, pp. 74-86

2012

  1. COGENT (COlorectal cancer GENeTics) revisited

    Mutagenesis, Vol. 27, Núm. 2, pp. 143-151