Publications in collaboration with researchers from Institució Catalana de Recerca i Estudis Avançats (112)

2024

  1. Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia

    Aging Cell

  2. DNA methylation and stroke prognosis: an epigenome-wide association study

    Clinical Epigenetics, Vol. 16, Núm. 1

  3. Minimal information for studies of extracellular vesicles (MISEV2023): From basic to advanced approaches

    Journal of Extracellular Vesicles, Vol. 13, Núm. 2

  4. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

  5. Sex differences in neural projections of fear memory processing in mice and humans

    Science Advances, Vol. 10, Núm. 28

2023

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

    Nature

  2. Application of new technologies in embryos: From gene editing to synthetic embryos

    Human Reproductive and Prenatal Genetics (Elsevier), pp. 853-886

  3. ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    Genome medicine, Vol. 15, Núm. 1, pp. 68

  4. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

  5. Frequency and phenotypic spectrum of spinocerebellar ataxia 27B and other genetic ataxias in a Spanish cohort of late-onset cerebellar ataxia

    European Journal of Neurology, Vol. 30, Núm. 12, pp. 3828-3833

  6. MALAT1 expression is associated with aggressive behavior in indolent B-cell neoplasms

    Scientific Reports, Vol. 13, Núm. 1

  7. Metabolic rewiring induced by ranolazine improves melanoma responses to targeted therapy and immunotherapy

    Nature Metabolism, Vol. 5, Núm. 9, pp. 1544-1562

  8. Pathogenic Mis-splicing of CPEB4 in Schizophrenia

    Biological Psychiatry, Vol. 94, Núm. 4, pp. 341-351

  9. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1

  10. Role of Hospital Exemption in Europe: position paper from the Spanish Advanced Therapy Network (TERAV)

    Bone Marrow Transplantation

  11. Serum methylation of GALNT9, UPF3A, WARS, and LDB2 as noninvasive biomarkers for the early detection of colorectal cancer and advanced adenomas

    Clinical Epigenetics, Vol. 15, Núm. 1

  12. Spastic Paraplegia Type 7 (SPG7)

    Essentials of Cerebellum and Cerebellar Disorders: A Primer For Graduate Students, Second Edition (Springer International Publishing), pp. 691-695

2022

  1. Altered CXCR4 dynamics at the cell membrane impairs directed cell migration in WHIM syndrome patients

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 119, Núm. 21

  2. Automated anatomical labeling of a topologically variant abdominal arterial system via probabilistic hypergraph matching

    Medical Image Analysis, Vol. 75

  3. Clinical characterisation of patients in the post-acute stage of anti-NMDA receptor encephalitis: a prospective cohort study and comparison with patients with schizophrenia spectrum disorders

    The Lancet Neurology, Vol. 21, Núm. 10, pp. 899-910