Publicaciones en colaboración con investigadores/as de University of Lausanne (36)

2024

  1. A genome-wide association analysis reveals new pathogenic pathways in gout*

    Nature Genetics

  2. ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies

    Blood, Vol. 144, Núm. 11, pp. 1193-1205

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

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

2023

  1. Diminishing benefits of urban living for children and adolescents’ growth and development

    Nature, Vol. 615, Núm. 7954, pp. 874-883

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

    Nature

2022

  1. Consolidation nivolumab and ipilimumab versus observation in limited-disease small-cell lung cancer after chemo-radiotherapy – results from the randomised phase II ETOP/IFCT 4-12 STIMULI trial

    Annals of Oncology, Vol. 33, Núm. 1, pp. 67-79

  2. PIGN encephalopathy: Characterizing the epileptology

    Epilepsia, Vol. 63, Núm. 4, pp. 974-991

  3. Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries (Nature, (2022), 611, 7934, (115-123), 10.1038/s41586-022-05165-3)

    Nature

  4. Stroke genetics informs drug discovery and risk prediction across ancestries

    Nature, Vol. 611, Núm. 7934, pp. 115-123

2021

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

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

  2. Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight

    eLife, Vol. 10

  3. How donor selection criteria can be evaluated with limited scientific evidence: lessons learned from the TRANSPOSE project

    Vox Sanguinis, Vol. 116, Núm. 3, pp. 342-350

  4. Mapping the human genetic architecture of COVID-19

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

  5. Putting the spotlight on donation-related risks and donor safety – are we succeeding in protecting donors?

    Vox Sanguinis, Vol. 116, Núm. 3, pp. 313-323

2020

  1. Active tuberculosis, sequelae and COVID-19 co-infection: First cohort of 49 cases

    European Respiratory Journal

  2. Glucose metabolism links astroglial mitochondria to cannabinoid effects

    Nature, Vol. 583, Núm. 7817, pp. 603-608

  3. Primrose syndrome: Characterization of the phenotype in 42 patients

    Clinical Genetics, Vol. 97, Núm. 6, pp. 890-901

  4. Standardization of Nomenclature for Ocular Tuberculosis–Results of Collaborative Ocular Tuberculosis Study (COTS) Workshop

    Ocular Immunology and Inflammation, Vol. 28, Núm. sup1, pp. 74-84

  5. Systematic genetic analysis of early-onset gout: ABCG2 is the only associated locus

    Rheumatology (United Kingdom), Vol. 59, Núm. 9, pp. 2544-2549

  6. The Collaborative Ocular Tuberculosis Study (COTS) Consensus (CON) Group Meeting Proceedings

    Ocular Immunology and Inflammation, Vol. 28, Núm. sup1, pp. 85-95