Publicaciones en colaboración con investigadores/as de John Radcliffe Hospital (46)

2024

  1. Neuronal alpha-Synuclein Disease integrated staging system performance in PPMI, PASADENA, and SPARK baseline cohorts

    npj Parkinson's Disease, Vol. 10, Núm. 1

  2. The “Woundosome” Concept and Its Impact on Procedural Outcomes in Patients With Chronic Limb-Threatening Ischemia

    Journal of Endovascular Therapy

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  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. Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

    Human Genetics, Vol. 141, Núm. 1, pp. 147-173

  2. Emergency surgery admissions and the COVID-19 pandemic: did the first wave really change our practice? Results of an ACOI/WSES international retrospective cohort audit on 6263 patients

    World Journal of Emergency Surgery, Vol. 17, Núm. 1

  3. Extended Coagulation Profiling in Isolated Traumatic Brain Injury: A CENTER-TBI Analysis

    Neurocritical Care, Vol. 36, Núm. 3, pp. 927-941

  4. Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

    Journal of Neurology, Neurosurgery and Psychiatry, Vol. 93, Núm. 10, pp. 1099-1111

  5. The ChoCO-W prospective observational global study: Does COVID-19 increase gangrenous cholecystitis?

    World Journal of Emergency Surgery, Vol. 17, Núm. 1

  6. Validation of the OAKS prognostic model for acute kidney injury after gastrointestinal surgery

    BJS Open, Vol. 6, Núm. 1

2021

  1. Genetic mechanisms of critical illness in COVID-19

    Nature, Vol. 591, Núm. 7848, pp. 92-98

  2. Long-Term Safety and Efficacy of Eculizumab in Aquaporin-4 IgG-Positive NMOSD

    Annals of Neurology, Vol. 89, Núm. 6, pp. 1088-1098

  3. Mapping the human genetic architecture of COVID-19

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

  4. Outcomes from elective colorectal cancer surgery during the SARS-CoV-2 pandemic

    Colorectal Disease, Vol. 23, Núm. 3, pp. 732-749

2020

  1. Genome-wide association analysis of type 2 diabetes in the EPIC-InterAct study

    Scientific Data

2019

  1. Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

    Nature Genetics, Vol. 51, Núm. 5, pp. 804-814

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. Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features

    American Journal of Human Genetics, Vol. 103, Núm. 5, pp. 786-793

2016

  1. Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry

    Journal of Neurology, Vol. 263, Núm. 7, pp. 1401-1408

  2. Performance of the PEdiatric Logistic Organ Dysfunction-2 score in critically ill children requiring plasma transfusions

    Annals of Intensive Care, Vol. 6, Núm. 1