Publicacións (134) Publicacións nas que participase algún/ha investigador/a Ver datos de investigación referenciados.

filter_list Genetics, Medical

2024

  1. Clinical and Genetic Analysis of Patients With TK2 Deficiency

    Neurology: Genetics, Vol. 10, Núm. 2

  2. Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry

    Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264

  3. Unraveling the three-dimensional (3D) genome architecture in Neurodevelopmental Disorders (NDDs)

    Neurogenetics, Vol. 25, Núm. 4, pp. 293-305

2023

  1. A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry

    Breast cancer research : BCR, Vol. 25, Núm. 1, pp. 93

  2. Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing

    Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113

  3. GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

    Nature, Vol. 617, Núm. 7962, pp. 764-768

  4. HLA alleles: important pieces to the COVID-19 puzzle

    Trends in Immunology

2022

  1. Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer (Nature Communications, (2020), 11, 1, (733), 10.1038/s41467-019-13824-9)

    Nature Communications

  2. Author Correction: High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations (Nature Communications, (2020), 11, 1, (736), 10.1038/s41467-019-13885-w)

    Nature Communications

  3. Author Correction: Inferring structural variant cancer cell fraction (Nature Communications, (2020), 11, 1, (730), 10.1038/s41467-020-14351-8)

    Nature Communications

  4. Author Correction: Integrative pathway enrichment analysis of multivariate omics data (Nature Communications, (2020), 11, 1, (735), 10.1038/s41467-019-13983-9)

    Nature Communications

  5. Author Correction: Reconstructing evolutionary trajectories of mutation signature activities in cancer using TrackSig (Nature Communications, (2020), 11, 1, (731), 10.1038/s41467-020-14352-7)

    Nature Communications

  6. Correction to: Invasion genetics of the Asian hornet Vespa velutina nigrithorax in Southern Europe (Biological Invasions, (2022), 24, 5, (1479-1494), 10.1007/s10530-022-02730-9)

    Biological Invasions

  7. Genetic ancestry in Afro-descendants from the Andes and Pacific Coast regions of Ecuador

    Forensic Science International: Genetics Supplement Series, Vol. 8, pp. 254-256

  8. PanCancer analysis of somatic mutations in repetitive regions reveals recurrent mutations in snRNA U2

    npj Genomic Medicine, Vol. 7, Núm. 1

  9. The early-life exposome modulates the effect of polymorphic inversions on DNA methylation

    Communications Biology, Vol. 5, Núm. 1

2021

  1. Aberrant integration of Hepatitis B virus DNA promotes major restructuring of human hepatocellular carcinoma genome architecture

    Nature Communications, Vol. 12, Núm. 1

  2. Association of variants in MYH7, MYBPC3 and TNNT2 with sudden cardiac death-related risk factors in Brazilian patients with hypertrophic cardiomyopathy

    Forensic Science International: Genetics, Vol. 52

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

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

  4. Genetic susceptibility to CRC

    Foundations of Colorectal Cancer (Elsevier), pp. 513-518