Publicacions en col·laboració amb investigadors/es de Erasmus University Medical Center (16)

2024

  1. Evaluating the association between placenta DNA methylation and cognitive functions in the offspring

    Translational Psychiatry, Vol. 14, Núm. 1

  2. Exploring the genetics of airflow limitation in lung function across the lifespan – a polygenic risk score study

    eClinicalMedicine, Vol. 75

  3. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

    Scientific Reports, Vol. 14, Núm. 1

  4. The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

    Orphanet Journal of Rare Diseases , Vol. 19, Núm. 1

2023

  1. Genome-wide association study of placental weight identifies distinct and shared genetic influences between placental and fetal growth

    Nature Genetics, Vol. 55, Núm. 11, pp. 1807-1819

  2. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130

2022

  1. A meta-analysis of pre-pregnancy maternal body mass index and placental DNA methylation identifies 27 CpG sites with implications for mother-child health

    Communications Biology, Vol. 5, Núm. 1

  2. Current clinical practice for thromboprophylaxis management in patients with Cushing’s syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN)

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

  3. Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes

    BMC Medical Genomics, Vol. 15, Núm. 1

2021

  1. The Pediatric Emergency Research Network (PERN): A decade of global research cooperation in paediatric emergency care

    EMA - Emergency Medicine Australasia, Vol. 33, Núm. 5, pp. 900-910

2020

  1. Preparedness and Response to Pediatric COVID-19 in European Emergency Departments: A Survey of the REPEM and PERUKI Networks

    Annals of Emergency Medicine, Vol. 76, Núm. 6, pp. 788-800

  2. Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

    Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196

2019

  1. Antibiotic prescription for febrile children in European emergency departments: a cross-sectional, observational study

    The Lancet Infectious Diseases, Vol. 19, Núm. 4, pp. 382-391

  2. Expert panel diagnosis demonstrated high reproducibility as reference standard in infectious diseases

    Journal of Clinical Epidemiology, Vol. 112, pp. 20-27

2018

  1. Clinical prediction models for young febrile infants at the emergency department: An international validation study

    Archives of Disease in Childhood, Vol. 103, Núm. 11, pp. 1033-1041

  2. Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement

    Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500