Publicaciones en colaboración con investigadoras/es de University of Lausanne (32)

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. Hematological and performance adaptations to altitude training (2,320 m) in elite middle-distance and distance swimmers

    Frontiers in Physiology, Vol. 15

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. Hemoglobin Mass and Blood Volume in Swimming: A Comparison Between Highly Trained, Elite, and World-Class Swimmers

    International journal of sports physiology and performance, Vol. 18, Núm. 11, pp. 1357-1361

  3. High-Intensity Interval Training, Performance, and Oxygen Uptake Kinetics in Highly Trained Traditional Rowers

    International journal of sports physiology and performance, Vol. 18, Núm. 3, pp. 326-330

2022

  1. Correction to: Training During the COVID-19 Lockdown: Knowledge, Beliefs, and Practices of 12,526 Athletes from 142 Countries and Six Continents (Sports Medicine, (2022), 52, 4, (933-948), 10.1007/s40279-021-01573-z)

    Sports Medicine

  2. Training During the COVID-19 Lockdown: Knowledge, Beliefs, and Practices of 12,526 Athletes from 142 Countries and Six Continents

    Sports Medicine, Vol. 52, Núm. 4, pp. 933-948

2021

  1. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

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

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

  3. Mapping the human genetic architecture of COVID-19

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

2020

  1. Glucose metabolism links astroglial mitochondria to cannabinoid effects

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

  2. 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

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

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

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

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

2019

  1. ADAPT technique with ACE68 and ACE64 reperfusion catheters in ischemic stroke treatment: Results from the PROMISE study

    Journal of NeuroInterventional Surgery, Vol. 11, Núm. 3, pp. 226-231

  2. Gout, Hyperuricaemia and Crystal-Associated Disease Network (G-CAN) consensus statement regarding labels and definitions of disease states of gout

    Annals of the Rheumatic Diseases, Vol. 78, Núm. 11, pp. 1592-1600

  3. Reassessing the Safety Profile of Lesinurad in Combination with Xanthine Oxidase Inhibitor Therapy

    Rheumatology and Therapy, Vol. 6, Núm. 1, pp. 101-108

2018

  1. Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

    The Lancet Neurology, Vol. 17, Núm. 9, pp. 760-772

  2. Multinational case-control study of risk factors for the development of late invasive pulmonary aspergillosis following kidney transplantation

    Clinical Microbiology and Infection, Vol. 24, Núm. 2, pp. 192-198