Publicaciones en colaboración con investigadores/as de Columbia University (40)

2024

  1. Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease

    Brain : a journal of neurology, Vol. 147, Núm. 5, pp. 1887-1898

2023

  1. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

    Movement Disorders, Vol. 38, Núm. 2, pp. 286-303

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

    Nature

  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

2022

  1. 2022 taxonomic update of phylum Negarnaviricota (Riboviria: Orthornavirae), including the large orders Bunyavirales and Mononegavirales

    Archives of Virology, Vol. 167, Núm. 12, pp. 2857-2906

  2. Diversity and ethics in trauma and acute care surgery teams: results from an international survey

    World Journal of Emergency Surgery, Vol. 17, Núm. 1

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

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

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

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

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

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

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

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

2021

  1. 2021 Taxonomic update of phylum Negarnaviricota (Riboviria: Orthornavirae), including the large orders Bunyavirales and Mononegavirales

    Archives of Virology, Vol. 166, Núm. 12, pp. 3513-3566

  2. Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

    Journal of Clinical Investigation, Vol. 131, Núm. 23

  3. 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

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

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

  5. Correction to: 2021 Taxonomic update of phylum Negarnaviricota (Riboviria: Orthornavirae), including the large orders Bunyavirales and Mononegavirales (Archives of Virology, (2021), 166, 12, (3513-3566), 10.1007/s00705-021-05143-6)

    Archives of Virology

  6. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

    Nature Communications, Vol. 12, Núm. 1

  7. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  8. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  9. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

    Nature Communications, Vol. 12, Núm. 1

  10. Mapping the human genetic architecture of COVID-19

    Nature, Vol. 600, Núm. 7889, pp. 472-477