Publicaciones en colaboración con investigadoras/es de Vall d'Hebron Institut de Recerca (23)

2024

  1. Renal Function Impairment in Children With Congenital Cytomegalovirus Infection: A Cross-sectional Study

    The Pediatric infectious disease journal, Vol. 43, Núm. 3, pp. 257-262

2023

  1. Clinical and genetic characteristics of Dent's disease type 1 in Europe

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 6, pp. 1497-1507

  2. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

    PloS one, Vol. 18, Núm. 7, pp. e0287515

  3. The Value of the Second QuantiFERON-TB Gold-Plus Antigen Tube at Diagnosis and at Treatment Completion in Spanish Children With Tuberculosis

    Pediatric Infectious Disease Journal, Vol. 42, Núm. 11, pp. 1017-1020

2022

  1. Consensus guide on prophylactic gonadectomy in different sex development

    Endocrinologia, Diabetes y Nutricion, Vol. 69, Núm. 8, pp. 629-645

  2. Development of Lung Function in Preterm Infants During the First Two Years of Life

    Archivos de Bronconeumologia, Vol. 58, Núm. 3, pp. 237-245

  3. 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

  4. Genetic diagnosis of basal ganglia disease in childhood

    Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752

  5. Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant

    Clinical Genetics

2021

  1. 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

  2. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Pediatric Nephrology, Vol. 36, Núm. 10, pp. 3045-3055

  3. 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

  4. Interferon-Gamma Release Assays Differentiate between Mycobacterium avium Complex and Tuberculous Lymphadenitis in Children

    Journal of Pediatrics, Vol. 236, pp. 211-218.e2

  5. QuantiFERON-TB Gold Plus Assay Specificity in Children and Adolescents With Suspected Tuberculosis - A Multicenter Cross-sectional Study in Spain

    Pediatric Infectious Disease Journal, Vol. 40, Núm. 9, pp. E348-E351

2020

  1. Diagnostic Accuracy of QuantiFERON-TB Gold Plus Assays in Children and Adolescents with Tuberculosis Disease

    Journal of Pediatrics, Vol. 223, pp. 212-215.e1

  2. Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 11

2019

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

    Frontiers in Immunology, Vol. 10

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

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

  3. Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia

    Nature Medicine, Vol. 25, Núm. 9, pp. 1396-1401

2018

  1. Management guidelines for disorders / different sex development (DSD)

    Anales de Pediatria, Vol. 89, Núm. 5, pp. 315.e1-315.e19