Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (64)

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

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. Driving role of head and neck cancer cell secretome on the invasion of stromal fibroblasts: Mechanistic insights by phosphoproteomics

    Biomedicine and Pharmacotherapy, Vol. 158

  5. 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

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

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

  9. The vestibular system: Contributions of Lorente de Nó

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

  10. 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

  3. Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry

    International journal of molecular sciences, Vol. 23, Núm. 18

  4. Clonal heterogeneity and rates of specific chromosome gains are risk predictors in childhood high-hyperdiploid B-cell acute lymphoblastic leukemia

    Molecular Oncology, Vol. 16, Núm. 16, pp. 2899-2919

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

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

2021

  1. A clinico-pathological and molecular analysis reveals differences between solitary (early and late-onset) and synchronous rectal cancer

    Scientific Reports, Vol. 11, Núm. 1

  2. Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

    Human Genomics, Vol. 15, Núm. 1

  3. Polymorphisms in eicosanoid-related biosynthesis enzymes associated with acute urticaria/angioedema induced by nonsteroidal anti-inflammatory drug hypersensitivity

    British Journal of Dermatology, Vol. 185, Núm. 4, pp. 815-824