Publicaciones en colaboración con investigadores/as de Pierre and Marie Curie University (7)

2024

  1. Practical approach for atrial cardiomyopathy characterization in patients with atrial fibrillation

    Revista Espanola de Cardiologia, Vol. 77, Núm. 8, pp. 656-666

2021

  1. Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

    Neurology, Vol. 97, Núm. 6, pp. E577-E586

  2. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

    American Journal of Human Genetics, Vol. 108, Núm. 6, pp. 1138-1150

2020

  1. 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

  2. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

    Biological Psychiatry, Vol. 87, Núm. 2, pp. 100-112

2016

  1. Estimation of the Relationship between External Biceps Brachii Deformation and Isometric Contraction Level Using Motion Capture Technique

    XIV MEDITERRANEAN CONFERENCE ON MEDICAL AND BIOLOGICAL ENGINEERING AND COMPUTING 2016

2015

  1. Genome-wide significant association with seven novel multiple sclerosis risk loci

    Journal of Medical Genetics, Vol. 52, Núm. 12, pp. 848-855