Publications in collaboration with researchers from 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