Centro de Investigación Biomédica en Red sobre Enfermedades Raras -ko ikertzaileekin lankidetzan egindako argitalpenak (19)

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

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

2008

  1. Beyond Wnt inhibition: New functions of secreted Frizzled-related proteins in development and disease

    Journal of Cell Science

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