Publicaciones en colaboración con investigadores/as de Cincinnati Children's Hospital Medical Center (4)

2022

  1. Miniseries 2-Septal and paraseptal accessory pathways-Part IV: Inferior paraseptal accessory pathways-lessons from surgical and catheter ablation

    Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, Vol. 24, Núm. 4, pp. 676-690

2020

  1. Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

    American Journal of Human Genetics, Vol. 107, Núm. 3, pp. 499-513

  2. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

    Genetics in Medicine, Vol. 22, Núm. 8, pp. 1338-1347

2016

  1. Clinical delineation of the PACS1-related syndrome-Report on 19 patients

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 3, pp. 670-675