Publicaciones en colaboración con investigadores/as de Universitat de Barcelona (25)

2024

  1. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

    Pediatric Neurology, Vol. 155, pp. 8-17

2023

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

    Nature

  2. Contraindications to sports participation. Spanish Society of Sports Medicine (SEMED) Consensus Document. Version 2023

    Archivos de Medicina del Deporte, Vol. 40, Núm. 5, pp. 248-279

  3. Dual latent tuberculosis screening with tuberculin skin tests and QuantiFERON-TB assays before TNF-α inhibitor initiation in children in Spain

    European Journal of Pediatrics, Vol. 182, Núm. 1, pp. 307-317

  4. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

  5. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

2022

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

    Nature

  2. A functional neuroimaging association study on the interplay between two schizophrenia genome-wide associated genes (CACNA1C and ZNF804A)

    European Archives of Psychiatry and Clinical Neuroscience, Vol. 272, Núm. 7, pp. 1229-1239

  3. Impact of COVID-19 in Immunosuppressed Children With Neuroimmunologic Disorders

    Neurology(R) neuroimmunology & neuroinflammation, Vol. 9, Núm. 1

  4. New insights of the role of the KCNH2 gene in schizophrenia: An fMRI case-control study

    European Neuropsychopharmacology, Vol. 60, pp. 38-47

  5. Whole-genome sequencing reveals host factors underlying critical COVID-19

    Nature, Vol. 607, Núm. 7917, pp. 97-103

2021

  1. Mapping the human genetic architecture of COVID-19

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

2020

  1. Analysis of KCNH2 and CACNA1C schizophrenia risk genes on EEG functional network modulation during an auditory odd-ball task

    European Archives of Psychiatry and Clinical Neuroscience, Vol. 270, Núm. 4, pp. 433-442

  2. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

2019

  1. 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

  2. Pattern of use of clozapine in Spain. Variability and under-prescription

    Revista de Psiquiatria y Salud Mental, Vol. 12, Núm. 3, pp. 151-162

2018

  1. Ibero-American consensus on low- and no-calorie sweeteners: Safety, nutritional aspects and benefits in food and beverages

    Nutrients, Vol. 10, Núm. 7

2015

  1. Multicenter program for the integrated care of newborns with perinatal hypoxic-ischemic insult (ARAHIP)

    Anales de Pediatria, Vol. 82, Núm. 3, pp. 172-182

2014

  1. Cognitive outcome and gamma noise power unrelated to neuregulin 1 and 3 variation in schizophrenia

    Annals of General Psychiatry, Vol. 13, Núm. 1

2011

  1. Convergent evidence of the contribution of TP53 genetic variation (Pro72Arg) to metabolic activity and white matter volume in the frontal lobe in schizophrenia patients

    NeuroImage, Vol. 56, Núm. 1, pp. 45-51