Publicacions en col·laboració amb investigadors/es de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (40)

2024

  1. Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation

    Movement Disorders, Vol. 39, Núm. 9, pp. 1578-1591

  2. Evaluation of bone-related mechanical properties in female patients with long-term remission of Cushing's syndrome using quantitative computed tomography-based finite element analysis

    European Journal of Endocrinology, Vol. 190, Núm. 1, pp. 86-95

  3. Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review

    Pediatric Neurology, Vol. 155, pp. 8-17

  4. High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures

    International Journal of Molecular Sciences, Vol. 25, Núm. 4

  5. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

  6. SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population

    Database : the journal of biological databases and curation, Vol. 2024

  7. Succinate Dehydrogenase and Human Disease: Novel Insights into a Well-Known Enzyme

    Biomedicines, Vol. 12, Núm. 9

  8. Systemic inflammation, oxidative damage and neurocognition predict telomere length in a transdiagnostic sample stratified by global DNA methylation levels

    Scientific Reports, Vol. 14, Núm. 1

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Development of a novel in vitro model to study the modulatory role of the respiratory complex I in macrophage effector functions

    PLoS ONE, Vol. 18, Núm. 9 September

  3. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

  4. 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

  5. Short stature and scoliosis: Revealing signs of ultrarare skeletal dysplasia

    Anales de Pediatria

  6. The mitochondrial succinate dehydrogenase complex controls the STAT3-IL-10 pathway in inflammatory macrophages

    iScience, Vol. 26, Núm. 8

  7. Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study

    Scientific Reports, Vol. 13, Núm. 1

2022

  1. A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility

    Cancers, Vol. 14, Núm. 19

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2021

  1. Familiar hypocalciuric hypercalcemia: Biochemical and genetic characterization of a family

    Medicina Clinica

  2. The association of telomere length with substance use disorders: a systematic review and meta-analysis of observational studies

    Addiction, Vol. 116, Núm. 8, pp. 1954-1972

2020

  1. Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

    Molecular Vision, Vol. 26, pp. 216-225