Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (14)

2024

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

    Movement Disorders

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. 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