Publicacions en col·laboració amb investigadors/es de Consejo Superior de Investigaciones Científicas (14)

2024

  1. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

2022

  1. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2019

  1. Muscle Fitness Cut Points for Early Assessment of Cardiovascular Risk in Children and Adolescents

    Journal of Pediatrics, Vol. 206, pp. 134-141.e3

2017

  1. A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

    Journal of Pediatrics, Vol. 183, pp. 170-177.e1

  2. Cardiorespiratory Fitness Cutoff Points for Early Detection of Present and Future Cardiovascular Risk in Children: A 2-Year Follow-up Study

    Mayo Clinic Proceedings, Vol. 92, Núm. 12, pp. 1753-1762

2016

  1. Inflammatory biomarkers and academic performance in youth. The UP & DOWN Study

    Brain, Behavior, and Immunity, Vol. 54, pp. 122-127

  2. Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

    Genetics in Medicine, Vol. 18, Núm. 10, pp. 1037-1043

  3. Perceived environment in relation to objective and self-reported physical activity in Spanish youth. The UP&DOWN study

    Journal of Sports Sciences, Vol. 34, Núm. 15, pp. 1423-1429

2015

  1. Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG

    Clinical Genetics, Vol. 87, Núm. 1, pp. 42-48

  2. Objectively measured and self-reported leisure-time sedentary behavior and academic performance in youth: The UP&DOWN Study

    Preventive Medicine, Vol. 77, pp. 106-111

2010

  1. Cux1 and Cux2 regulate dendritic branching, spine morphology, and synapses of the upper layer neurons of the cortex

    Neuron, Vol. 66, Núm. 4, pp. 523-535

  2. Proper differentiation of photoreceptors and amacrine cells depends on a regulatory loop between NeuroD and Six6

    Development, Vol. 137, Núm. 14, pp. 2307-2317

2009

  1. Retinitis pigmentosa: Cone photoreceptors starving to death

    Nature Neuroscience