Publicaciones en colaboración con investigadores/as de University of Pennsylvania (50)

2024

  1. A systematic review of progranulin concentrations in biofluids in over 7,000 people—assessing the pathogenicity of GRN mutations and other influencing factors

    Alzheimer's Research and Therapy, Vol. 16, Núm. 1

  2. Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA

    Hepatology (Baltimore, Md.), Vol. 79, Núm. 6, pp. 1279-1292

  3. Health-related quality of life in patients with newly diagnosed advanced ovarian cancer treated with niraparib vs placebo: Results from the phase 3 randomized PRIMA/ENGOT-OV26/GOG-3012 trial

    Gynecologic Oncology, Vol. 184, pp. 168-177

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

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

2023

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

    Nature

  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

  3. Metastatic solid tumors to the testis: a clinicopathologic evaluation of 157 cases from an international collaboration

    Human Pathology, Vol. 139, pp. 37-46

  4. Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

    Hepatology, Vol. 77, Núm. 2, pp. 512-529

  5. The rates of adult neurogenesis and oligodendrogenesis are linked to cell cycle regulation through p27-dependent gene repression of SOX2

    Cellular and Molecular Life Sciences, Vol. 80, Núm. 1

2022

  1. 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

  2. Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes

    BMC Medical Genomics, Vol. 15, Núm. 1

  3. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111

  4. Longitudinal clinical and biomarker characteristics of non-manifesting LRRK2 G2019S carriers in the PPMI cohort

    npj Parkinson's Disease, Vol. 8, Núm. 1

  5. Mild-to-Moderate Kidney Dysfunction and Cardiovascular Disease: Observational and Mendelian Randomization Analyses

    Circulation, Vol. 146, Núm. 20, pp. 1507-1517

  6. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

  7. Prevalence Estimates of Amyloid Abnormality Across the Alzheimer Disease Clinical Spectrum

    JAMA Neurology, Vol. 79, Núm. 3, pp. 228-243

  8. Temporal order of clinical and biomarker changes in familial frontotemporal dementia

    Nature medicine, Vol. 28, Núm. 10, pp. 2194-2206

  9. The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

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

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

    Science immunology, Vol. 6, Núm. 62