Publications in collaboration with researchers from Necker-Enfants Malades Hospital (17)

2025

  1. Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

    Orphanet Journal of Rare Diseases , Vol. 20, Núm. 1

2024

  1. European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

    Advances in Therapy

2023

  1. Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia

    Genes, Vol. 14, Núm. 1

  2. Real-world evidence in achondroplasia: considerations for a standardized data set

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

2022

  1. Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 79, Núm. 20, pp. 1986-1997

  2. Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

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

  3. Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

    Circulation. Arrhythmia and electrophysiology, Vol. 15, Núm. 5, pp. e010075

2021

  1. Childhood asthma outcomes during the COVID-19 pandemic: Findings from the PeARL multi-national cohort

    Allergy: European Journal of Allergy and Clinical Immunology, Vol. 76, Núm. 6, pp. 1765-1775

  2. Early vaginal progesterone versus placebo in twin pregnancies for the prevention of spontaneous preterm birth: a randomized, double-blind trial

    American Journal of Obstetrics and Gynecology, Vol. 224, Núm. 1, pp. 86.e1-86.e19

  3. Impact of Bacillus Calmette-Gue´rin (BCG) vaccination on postoperative mortality in patients with perioperative SARS-CoV-2 infection

    BJS Open

  4. Machine learning risk prediction of mortality for patients undergoing surgery with perioperative SARS-CoV-2: The COVIDSurg mortality score

    British Journal of Surgery, Vol. 19, Núm. 4

  5. Prediction of pre-eclampsia in twin pregnancy by maternal factors and biomarkers at 11–13 weeks' gestation: data from EVENTS trial

    Ultrasound in Obstetrics and Gynecology, Vol. 57, Núm. 2, pp. 257-265

  6. The first European consensus on principles of management for achondroplasia

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2018

  1. Further refinement of COL4A1 and COL4A2 related cortical malformations

    European Journal of Medical Genetics, Vol. 61, Núm. 12, pp. 765-772

2012

  1. Reduced elastogenesis: A clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

    Orphanet Journal of Rare Diseases, Vol. 7, Núm. 1

2008

  1. Definition, assessment and treatment of wheezing disorders in preschool children: An evidence-based approach

    European Respiratory Journal, Vol. 32, Núm. 4, pp. 1096-1110

2007

  1. Schimke immunoosseous dysplasia: Suggestions of genetic diversity

    Human Mutation, Vol. 28, Núm. 3, pp. 273-283