Publications in collaboration with researchers from University of Pennsylvania (62)

2024

  1. Analysis of guideline recommendations for treatment of asthma exacerbations in children: a Pediatric Emergency Research Networks (PERN) study

    Archives of Disease in Childhood, Vol. 109, Núm. 6, pp. 468-475

  2. Rapid iPSC inclusionopathy models shed light on formation, consequence, and molecular subtype of α-synuclein inclusions

    Neuron, Vol. 112, Núm. 17, pp. 2886-2909.e16

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

    Journal of Endovascular Therapy

2023

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

    Nature

  2. Executive Summary of the Second International Guidelines for the Diagnosis and Management of Pediatric Acute Respiratory Distress Syndrome (PALICC-2)

    Pediatric Critical Care Medicine, Vol. 24, Núm. 2, pp. 143-168

  3. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

    Brain, Vol. 146, Núm. 8, pp. 3273-3288

2022

  1. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366

  2. Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries (Nature, (2022), 611, 7934, (115-123), 10.1038/s41586-022-05165-3)

    Nature

  3. Stroke genetics informs drug discovery and risk prediction across ancestries

    Nature, Vol. 611, Núm. 7934, pp. 115-123

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Biomarkers for Traumatic Brain Injury: Data Standards and Statistical Considerations

    Journal of Neurotrauma, Vol. 38, Núm. 18, pp. 2514-2529

  3. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

  4. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

  5. Mapping the human genetic architecture of COVID-19

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

  6. Neonatal mastitis and concurrent serious bacterial infection

    Pediatrics, Vol. 148, Núm. 1

2020

  1. Acute severe paediatric asthma: Study protocol for the development of a core outcome set, a Pediatric Emergency Reserarch Networks (PERN) study

    Trials, Vol. 21, Núm. 1

  2. Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study

    The Lancet Neurology, Vol. 19, Núm. 3, pp. 234-246

  3. Predicting Mortality in Children With Pediatric Acute Respiratory Distress Syndrome: A Pediatric Acute Respiratory Distress Syndrome Incidence and Epidemiology Study

    Critical Care Medicine, Vol. 48, Núm. 6, pp. E514-E522

2019

  1. Paediatric acute respiratory distress syndrome incidence and epidemiology (PARDIE): an international, observational study

    The Lancet Respiratory Medicine, Vol. 7, Núm. 2, pp. 115-128

  2. Point-of-care ultrasound: Is it time to include it in the paediatric specialist training program?

    Anales de Pediatria, Vol. 91, Núm. 3, pp. 206.e1-206.e13