Publikationen in Zusammenarbeit mit Forschern von Hospital Universitario La Paz (45)

2024

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

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

2023

  1. A Pilot Study of a Panel of Ocular Inflammation Biomarkers in Patients with Primary Sjögren’s Syndrome

    Current Issues in Molecular Biology, Vol. 45, Núm. 4, pp. 2881-2894

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

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

  3. Mortality reduction in older COVID-19-patients hospitalized in Spain during the second pandemic wave from the SEMI-COVID-19 Registry

    Scientific Reports, Vol. 13, Núm. 1

  4. 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

  3. RICORS2040: The need for collaborative research in chronic kidney disease

    Clinical Kidney Journal, Vol. 15, Núm. 3, pp. 372-387

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. Rib cage anatomy in Homo erectus suggests a recent evolutionary origin of modern human body shape

    Nature Ecology and Evolution, Vol. 4, Núm. 9, pp. 1178-1187

  4. 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. CCR-CARESS score for predicting operative mortality in patients with colorectal cancer

    British Journal of Surgery, Vol. 105, Núm. 13, pp. 1853-1861

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

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

  3. Involvement of SNPs in miR-3117 and miR-3689d2 in childhood acute lymphoblastic leukemia risk

    Oncotarget, Vol. 9, Núm. 33, pp. 22907-22914

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

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

  5. Mir-pharmacogenetics of Vincristine and peripheral neurotoxicity in childhood B-cell acute lymphoblastic leukemia

    Pharmacogenomics Journal, Vol. 18, Núm. 6, pp. 704-712