Publicacións en colaboración con investigadores/as de Hospital Clinic Barcelona (42)

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

  3. 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

  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. Germline mutations in WNK2 could be associated with serrated polyposis syndrome

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 557-567

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

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

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. Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes

    Parkinsonism and Related Disorders, Vol. 94, pp. 67-78

  3. 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

  2. The risk of thrombosis in essential thrombocythemia is associated with the type of CALR mutation: A multicentre collaborative study

    European Journal of Haematology, Vol. 106, Núm. 3, pp. 371-379

2020

  1. Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility

    Journal of Medical Genetics, Vol. 57, Núm. 10, pp. 677-682

  2. 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

2018

  1. Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis

    Journal of Genetics and Genomics

  2. Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

    Human Mutation, Vol. 39, Núm. 8, pp. 1126-1138

2017

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

    Scientific Reports, Vol. 7, Núm. 1

  2. Genetic analysis in post-mortem samples with micro-ischemic alterations

    Forensic Science International, Vol. 271, pp. 120-125

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

    Nature Communications, Vol. 8

  4. POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer

    Oncotarget, Vol. 8, Núm. 16, pp. 26732-26743