Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (83)

2024

  1. Clinical practice guideline on the management of vestibular schwannoma

    Acta Otorrinolaringologica Espanola, Vol. 75, Núm. 2, pp. 108-128

  2. Engineered T cells secreting anti-BCMA T cell engagers control multiple myeloma and promote immune memory in vivo

    Science translational medicine, Vol. 16, Núm. 734, pp. eadg7962

  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. Rafael Lorente de Nó (1902–1990)

    Journal of Neurology

2023

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

    Nature

  2. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

    Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654

  3. Clinical parameters affecting survival outcomes in patients with low-grade serous ovarian carcinoma: An international multicentre analysis

    CMAJ. Canadian Medical Association Journal, Vol. 66, Núm. 3, pp. E310-E320

  4. 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

  5. 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

  6. NLRP3 inflammasome activation and symptom burden in KRAS-mutated CMML patients is reverted by IL-1 blocking therapy

    Cell Reports Medicine, Vol. 4, Núm. 12

  7. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

    British Journal of Cancer, Vol. 128, Núm. 12, pp. 2283-2294

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

    Anales de Pediatria

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

    iScience, Vol. 26, Núm. 8

  10. The outcome of boosting mitochondrial activity in alcohol-associated liver disease is organ-dependent

    Hepatology (Baltimore, Md.), Vol. 78, Núm. 3, pp. 878-895

  11. The vestibular system: Contributions of Lorente de Nó

    Journal of Vestibular Research: Equilibrium and Orientation, Vol. 33, Núm. 5, pp. 287-297

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

    Scientific Reports, Vol. 13, Núm. 1

  13. p53 and ovarian carcinoma survival: an Ovarian Tumor Tissue Analysis consortium study

    Journal of Pathology: Clinical Research, Vol. 9, Núm. 3, pp. 208-222

2022

  1. CD34+CD19−CD22+ B-cell progenitors may underlie phenotypic escape in patients treated with CD19-directed therapies

    Blood, Vol. 140, Núm. 1, pp. 38-44

  2. CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival

    Cancers, Vol. 14, Núm. 2