Publicaciones en colaboración con investigadoras/es de Hospital Universitario La Paz (31)

2024

  1. The Human Phenotype Ontology in 2024: phenotypes around the world

    Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346

2023

  1. New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

    Frontiers in Genetics, Vol. 14

2022

  1. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

    Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366

  2. Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome

    Journal of Medical Genetics, Vol. 59, Núm. 3, pp. 253-261

2021

  1. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

  2. Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

    Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196

  3. Role of rs10406069 in miR-5196 in hyperdiploid childhood acute lymphoblastic leukemia

    Epigenomics, Vol. 12, Núm. 22, pp. 1949-1955

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders

    Anales de Pediatria, Vol. 90, Núm. 2, pp. 125.e1-125.e12

2018

  1. Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement

    Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500

  2. Involvement of miRNA polymorphism in mucositis development in childhood acute lymphoblastic leukemia treatment

    Pharmacogenomics, Vol. 19, Núm. 18, pp. 1403-1412

  3. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2017

  1. Intratumoral activating GNAS (R201C) mutation in two unrelated patients with virilizing ovarian Leydig cell tumors

    Endocrinologia, Diabetes y Nutricion, Vol. 64, Núm. 6, pp. 335-337

2016

  1. A systematic review and meta-analysis of MDM2 polymorphisms in osteosarcoma susceptibility

    Pediatric Research, Vol. 80, Núm. 4, pp. 472-479

  2. Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 10, pp. 2740-2749

  3. Vincristine pharmacokinetics pathway and neurotoxicity during early phases of treatment in pediatric acute lymphoblastic leukemia

    Pharmacogenomics, Vol. 17, Núm. 7, pp. 731-741

2014

  1. Noncoding RNA-related polymorphisms in pediatric acute lymphoblastic leukemia susceptibility

    Pediatric Research, Vol. 75, Núm. 6, pp. 767-773

  2. Pharmacogenetics of MicroRNAs and MicroRNAs biogenesis machinery in pediatric acute lymphoblastic leukemia

    PLoS ONE, Vol. 9, Núm. 3

2013

  1. Chromosome 16 consortium: Current developments on the characterization of the proteins encoded by the chromosome 16”

    Proteómica: revista de la Sociedad Española de Proteómica, Núm. 9, pp. 112-112