Publicaciones en colaboración con investigadores/as de Universitat Autònoma de Barcelona (23)

2024

  1. Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation

    Movement Disorders, Vol. 39, Núm. 9, pp. 1578-1591

  2. Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry

    Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264

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

  3. Genetic Architecture of Ischaemic Strokes after COVID-19 Shows Similarities with Large Vessel Strokes

    International Journal of Molecular Sciences, Vol. 24, Núm. 17

2022

  1. Increased Presentation of Diabetic Ketoacidosis and Changes in Age and Month of Type 1 Diabetes at Onset during the COVID-19 Pandemic in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 15

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

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

2021

  1. Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

    Journal of Clinical Investigation, Vol. 131, Núm. 23

  2. Mapping the human genetic architecture of COVID-19

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

2020

  1. Opinion paper: Measuring livestock robustness and resilience: are we on the right track?

    Animal

2019

  1. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

    Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751

  2. Clinical Characteristics, Associated Malignancies and Management of Primary Sclerosing Cholangitis in Inflammatory Bowel Disease Patients: A Multicentre Retrospective Cohort Study

    Journal of Crohn's & colitis, Vol. 13, Núm. 12, pp. 1492-1500

2018

  1. Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG

    Neuropediatrics, Vol. 49, Núm. 6, pp. 408-413

  2. Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 72, Núm. 20, pp. 2457-2467

  3. Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy

    International Journal of Molecular Sciences, Vol. 19, Núm. 2

2016

  1. Looking beyond patients: Can parents’ quality of life predict asthma control in children?

    Pediatric Pulmonology, Vol. 51, Núm. 7, pp. 670-677

  2. Quality of life in caregivers of children with asthma: Validity and reliability of the IFABI-R questionnaire

    Allergologia et Immunopathologia, Vol. 44, Núm. 2, pp. 131-137

2014

  1. Association between quality of life in parents and components of asthma control in children

    Journal of Asthma, Vol. 51, Núm. 10, pp. 1089-1095

2009

  1. Histomorphological study of the bone regeneration capacity of platelet-rich plasma, bone marrow and tricalcium phosphate Experimental study on pigs

    Medicina Oral, Patologia Oral y Cirugia Bucal, Vol. 14, Núm. 12

2006

  1. Kinetic parameters of Escherichia coli O157:H7 survival during fermentation of milk and refrigeration of home-made yoghurt

    International Dairy Journal, Vol. 16, Núm. 5, pp. 474-481