Publications in collaboration with researchers from Guy's Hospital (10)

2024

  1. European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

    Advances in Therapy

2023

  1. Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry

    European Heart Journal - Quality of Care and Clinical Outcomes, Vol. 9, Núm. 1, pp. 42-53

  2. European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

    Orphanet journal of rare diseases, Vol. 18, Núm. 1, pp. 219

2022

  1. Optimising care and follow-up of adults with achondroplasia

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

  2. Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

2021

  1. Impact of Bacillus Calmette-Gue´rin (BCG) vaccination on postoperative mortality in patients with perioperative SARS-CoV-2 infection

    BJS Open

  2. Machine learning risk prediction of mortality for patients undergoing surgery with perioperative SARS-CoV-2: The COVIDSurg mortality score

    British Journal of Surgery, Vol. 19, Núm. 4

  3. The first European consensus on principles of management for achondroplasia

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2014

  1. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Human Molecular Genetics, Vol. 23, Núm. 11, pp. 2888-2900

2013

  1. Management of infected pancreatic necrosis using retroperitoneal necrosectomy with flexible endoscope: 10 years of experience

    Surgical Endoscopy, Vol. 27, Núm. 2, pp. 443-453