Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (22)

2024

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

    eLife, Vol. 13

  2. Small pituitary volume and central nervous system anomalies in Fanconi Anemia

    Frontiers in Endocrinology, Vol. 15

2023

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

    Nature

  2. Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia

    Haematologica, Vol. 108, Núm. 10, pp. 2652-2663

  3. Genetic signature detected in T cell receptors from patients with severe COVID-19

    iScience, Vol. 26, Núm. 10

  4. Thrombin generation profile using ST-Genesia after PEG-asparaginase in pediatric patients with acute lymphoblastic leukemia

    Thrombosis and Haemostasis

2022

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

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

2021

  1. Dietary patterns, eating behavior, and nutrient intakes of spanish preschool children with autism spectrum disorders

    Nutrients, Vol. 13, Núm. 10

  2. Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes

    Molecular Therapy - Methods and Clinical Development, Vol. 22, pp. 66-75

2020

  1. Sfrp1 deficiency makes retinal photoreceptors prone to degeneration

    Scientific reports, Vol. 10, Núm. 1, pp. 5115

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. DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stress

    PLoS ONE, Vol. 12, Núm. 6

  3. Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

    PLoS ONE, Vol. 12, Núm. 11

2016

  1. Immunomagnetic T cell depletion: An analysis of variables affecting final cell yield

    Clinical Laboratory, Vol. 62, Núm. 7, pp. 1243-1248

  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

2015

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

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

  2. Complexity of the hereditary motor and sensory neuropathies

    Journal of Child Neurology, Vol. 30, Núm. 11, pp. 1544-1548

2011

  1. Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

    Neurogenetics, Vol. 12, Núm. 3, pp. 183-191

  2. Sox2-mediated differential activation of Six3.2 contributes to forebrain patterning

    Development, Vol. 139, Núm. 1, pp. 151-164

2009

  1. Cell cycle control of Notch signaling and the functional regionalization of the neuroepithelium during vertebrate neurogenesis

    International Journal of Developmental Biology, Vol. 53, Núm. 7, pp. 895-908