Publicaciones en colaboración con investigadores/as de Leeds and York Partnership NHS Foundation Trust (9)

2020

  1. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

    American Journal of Human Genetics, Vol. 106, Núm. 2, pp. 272-279

2019

  1. Week 96 efficacy and safety results of the phase 3, randomized EMERALD trial to evaluate switching from boosted-protease inhibitors plus emtricitabine/tenofovir disoproxil fumarate regimens to the once daily, single-tablet regimen of darunavir/cobicistat/emtricitabine/tenofovir alafenamide (D/C/F/TAF) in treatment-experienced, virologically-suppressed adults living with HIV-1

    Antiviral Research, Vol. 170

2018

  1. Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy

    Muscle and Nerve, Vol. 57, Núm. 3, pp. 380-387

  2. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

    Skeletal Muscle, Vol. 8, Núm. 1

  3. Human Early Life Exposome (HELIX) study: A European population-based exposome cohort

    BMJ Open, Vol. 8, Núm. 9

  4. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

    The Lancet Neurology, Vol. 17, Núm. 6, pp. 548-558

  5. Risk factors for unfavourable postoperative outcome in patients with Crohn's disease undergoing right hemicolectomy or ileocaecal resection. An international audit by ESCP and S-ECCO

    Colorectal Disease, Vol. 20, Núm. 3, pp. 219-227

2016

  1. The IASLC lung cancer staging project: Proposals for revision of the TNM stage groupings in the forthcoming (eighth) edition of the TNM Classification for lung cancer

    Journal of Thoracic Oncology, Vol. 11, Núm. 1, pp. 39-51

2015

  1. Development and Validation of a Risk Score for Chronic Kidney Disease in HIV Infection Using Prospective Cohort Data from the D:A:D Study

    PLoS Medicine, Vol. 12, Núm. 3