University of Lausanne-ko ikertzaileekin lankidetzan egindako argitalpenak (22)

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

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

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. 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. Mapping the human genetic architecture of COVID-19

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

2020

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

    European Respiratory Journal

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

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

  3. 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

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

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

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

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

2019

  1. 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

  2. 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

2017

  1. 2016 updated EULAR evidence-based recommendations for the management of gout

    Annals of the Rheumatic Diseases, Vol. 76, Núm. 1, pp. 29-42

  2. MicroRNAs miR-23a-3p, miR-23b-3p, and miR-149-5p regulate the expression of proapoptotic bh3-only proteins DP5 and PUMA in human pancreatic β-cells

    Diabetes, Vol. 66, Núm. 1, pp. 100-112

2013

  1. MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study

    Clinical Genetics, Vol. 84, Núm. 6, pp. 539-545