Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (36)

2024

  1. Access to melanoma drugs in Spain: a cross-sectional survey

    Clinical and Translational Oncology, Vol. 26, Núm. 10, pp. 2572-2583

  2. Access to systemic treatment of non-melanoma skin cancer in Spain: a survey analysis

    Clinical and Translational Oncology

  3. Clinical practice guideline on the management of vestibular schwannoma

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

  4. L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study

    Brain, Vol. 147, Núm. 5, pp. 1653-1666

  5. Melanoma Registry of the Spanish Academy of Dermatology and Venereology (REGESMEL): Description and Data in its First Year of Operation

    Actas Dermo-Sifiliograficas, Vol. 115, Núm. 7, pp. 663-669

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

    eLife, Vol. 13

  7. Rafael Lorente de Nó (1902–1990)

    Journal of Neurology, Vol. 271, Núm. 7, pp. 4727-4729

  8. Women with Gaucher Disease

    Biomedicines, Vol. 12, Núm. 3

2023

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

    Nature

  2. Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma

    Frontiers in Endocrinology, Vol. 13

  3. Diagnosis, evaluation and monitoring of acute hepatic porphyria

    Medicina Clinica

  4. Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review

    Movement Disorders Clinical Practice, Vol. 10, Núm. 11, pp. 1671-1679

  5. Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia

    Haematologica, Vol. 108, Núm. 10, pp. 2652-2663

  6. 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

  7. Neurological adverse events related to immune-checkpoint inhibitors in Spain: a retrospective cohort study

    The Lancet Neurology, Vol. 22, Núm. 12, pp. 1150-1159

  8. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1

  9. Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy

    Pediatric Neurology, Vol. 144, pp. 11-15

  10. The vestibular system: Contributions of Lorente de Nó

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

2022

  1. Diagnostic and follow-up protocol for adult patients with neurofibromatosis type 1 in a Spanish reference unit

    Revista Clinica Espanola, Vol. 222, Núm. 8, pp. 486-495

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

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