Publikationen in Zusammenarbeit mit Forschern von Instituto de Salud Carlos III (50)

2024

  1. Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004336

2023

  1. Characteristics and management of patients with SARS-CoV2 infection admitted to pediatric intensive care units: Data analysis of the Spanish national multicenter registry

    Pediatric Pulmonology, Vol. 58, Núm. 10, pp. 2916-2929

  2. Decoding the molecular heterogeneity of pediatric monomorphic post–solid organ transplant lymphoproliferative disorders

    Blood, Vol. 142, Núm. 5, pp. 434-445

  3. Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing

    International Journal of Molecular Sciences, Vol. 24, Núm. 22

  4. Loss of the matrix metalloproteinase-10 causes premature features of aging in satellite cells

    Frontiers in Cell and Developmental Biology, Vol. 11

  5. Opsoclonus-myoclonus syndrome: clinical characteristics, therapeutic considerations, and prognostic factors in a Spanish paediatric cohort

    Neurologia, Vol. 38, Núm. 2, pp. 93-105

2022

  1. Current status of precision medicine in pediatric oncology in Spain: a consensus report by the Spanish Society of Paediatric Haematology and Oncology (SEHOP)

    Clinical and Translational Oncology, Vol. 24, Núm. 5, pp. 809-815

  2. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology, Vol. 98, Núm. 9, pp. E912-E923

  3. Gluten-induced RNA methylation changes regulate intestinal inflammation via allele-specific XPO1 translation in epithelial cells

    Gut, Vol. 71, Núm. 1, pp. 68-77

2021

  1. Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

  2. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 2, pp. 401-414

2020

  1. Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

    Scientific Reports, Vol. 10, Núm. 1

  2. Incidence and regression of metabolic syndrome in a representative sample of the Spanish population: Results of the cohort di@bet.es study

    BMJ Open Diabetes Research and Care, Vol. 8, Núm. 1

  3. Incidence of diabetes mellitus in Spain as results of the nation-wide cohort di@bet.es study

    Scientific Reports, Vol. 10, Núm. 1

  4. Update of the Spanish registry of haemoglobinopathies in children and adults

    Medicina Clinica, Vol. 155, Núm. 3, pp. 95-103

2019

  1. Controversies in growth hormone treatment in patients with Prader-Willi syndrome

    Acta Pediatrica Espanola, Vol. 77, Núm. 1-2, pp. 6-11

  2. Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

    Annals of Neurology, Vol. 86, Núm. 2, pp. 293-303

  3. Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

    Frontiers in Immunology, Vol. 10

  4. Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study

    Pediatric Pulmonology, Vol. 54, Núm. 6, pp. 837-846

  5. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders