Publicaciones en colaboración con investigadores/as de Universidade de Santiago de Compostela (42)

2023

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

    Nature

  2. Correction: Vitamin C and folate status in hereditary fructose intolerance (European Journal of Clinical Nutrition, (2022), 76, 12, (1733-1739), 10.1038/s41430-022-01178-3)

    European Journal of Clinical Nutrition

  3. Long-Term Outcomes of Biological Therapy in Crohn's Disease Complicated with Internal Fistulizing Disease: BIOSCOPE Study from GETECCU

    American Journal of Gastroenterology, Vol. 118, Núm. 6, pp. 1036-1046

  4. Staging Parkinson's Disease According to the MNCD (Motor/Non-motor/Cognition/Dependency) Classification Correlates with Disease Severity and Quality of Life

    Journal of Parkinson's disease, Vol. 13, Núm. 3, pp. 379-402

2022

  1. CHARACTERIZING COVID-19-RELATED RETINAL VASCULAR OCCLUSIONS: A Case Series and Review of the Literature

    Retina (Philadelphia, Pa.), Vol. 42, Núm. 3, pp. 465-475

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  3. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

  4. Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 105

2021

  1. Relationship between sleep quality and cognitive performance in patients with epilepsy

    Epilepsy and Behavior, Vol. 122

  2. The first wave of the COVID-19 epidemic in Spain was associated with early introductions and fast spread of a dominating genetic variant

    Nature Genetics, Vol. 53, Núm. 10, pp. 1405-1414

  3. Treatment of Intracranial Aneurysms Using the New Silk Vista Flow Diverter: Safety Outcomes at Short-Term Follow-Up

    Frontiers in Neurology, Vol. 12

2020

  1. Cribado selectivo de la hipofosfatasia en la población pediátrica del País Vasco

    Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 121, pp. 14-17

  2. La Estadística en la investigación en ciencias de la salud

    BEIO, Boletín de Estadística e Investigación Operativa, Vol. 36, Núm. 3, pp. 293-303

  3. Liver osteopontin is required to prevent the progression of age-related nonalcoholic fatty liver disease

    Aging Cell, Vol. 19, Núm. 8

  4. Oversedation Zero as a tool for comfort, safety and intensive care unit management

    Medicina Intensiva, Vol. 44, Núm. 4, pp. 239-247

  5. XII Reunión Post-ECTRIMS: revisión de las novedades presentadas en el Congreso ECTRIMS 2019 (I)

    Revista de neurologia, Vol. 70, Núm. 10, pp. 379-390

  6. XII Reunión Post-ECTRIMS: revisión de las novedades presentadas en el Congreso ECTRIMS 2019 (II)

    Revista de neurologia, Vol. 70, Núm. 11, pp. 417-429

2019

  1. Anaesthesia and endovascular therapy in patients with acute ischaemic stroke

    European Journal of Anaesthesiology

  2. Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)

    Frontiers in Genetics, Vol. 10, Núm. OCT

2018

  1. Admission, discharge and triage guidelines for paediatric intensive care units in Spain

    Anales de Pediatria, Vol. 88, Núm. 5, pp. 287.e1-287.e11