Publications in collaboration with researchers from Leiden University Medical Center (8)

2023

  1. 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. 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

2019

  1. Development of a Novel Risk Prediction Model for Sudden Cardiac Death in Childhood Hypertrophic Cardiomyopathy (HCM Risk-Kids)

    JAMA Cardiology, Vol. 4, Núm. 9, pp. 918-927

  2. Post cholecystectomy bile duct injury: early, intermediate or late repair with hepaticojejunostomy – an E-AHPBA multi-center study

    HPB, Vol. 21, Núm. 12, pp. 1641-1647

  3. Procedural Surgical RCTs in Daily Practice: Do Surgeons Adopt Or Is It Just a Waste of Time?

    Annals of Surgery, Vol. 270, Núm. 5, pp. 727-734

2017

  1. Addressing unmet needs in understanding asthma mechanisms

    European Respiratory Journal, Vol. 49, Núm. 5

2013

  1. A comprehensive molecular study on coffin-siris and nicolaides-baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

    Human Molecular Genetics, Vol. 22, Núm. 25, pp. 5121-5135