Publicacions en col·laboració amb investigadors/es de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (17)

2024

  1. Further Evidence of Cerebellar Cognitive Affective/Schmahmann Syndrome in RFC1-Related Syndrome

    Movement Disorders

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

    eLife, Vol. 13

  3. 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

2017

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

    PLoS ONE, Vol. 12, Núm. 11

2016

  1. CHK1 expression in Gastric Cancer is modulated by p53 and RB1/E2F1: Implications in chemo/radiotherapy response

    Scientific Reports, Vol. 6

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

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

2015

  1. Complexity of the hereditary motor and sensory neuropathies

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

2009

  1. The second wind phenomenon in very young McArdle's patients

    Neuromuscular Disorders, Vol. 19, Núm. 6, pp. 403-405

2008

  1. The / allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease

    British Journal of Sports Medicine, Vol. 42, Núm. 2, pp. 134-140

2007

  1. A comprehensive strategy for the subtyping of patients with Fanconi anaemia: Conclusions from the Spanish Fanconi Anemia Research Network

    Journal of Medical Genetics, Vol. 44, Núm. 4, pp. 241-249