2024

1. A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis

   Journal of Molecular Diagnostics, Vol. 26, Núm. 1, pp. 17-28

2. A multiomic atlas of the aging hippocampus reveals molecular changes in response to environmental enrichment

   Nature Communications, Vol. 15, Núm. 1

3. CARTAR: a comprehensive web tool for identifying potential targets in chimeric antigen receptor therapies using TCGA and GTEx data

   Briefings in Bioinformatics, Vol. 25, Núm. 4

4. CLINICAL SUSPICION AND INITIAL DIAGNOSTIC STUDIES IN INHERITED METABOLIC DISEASES

   BOLETIN DE PEDIATRIA, Vol. 64, Núm. 267, pp. 29-38

5. Clinical Characteristics of Patients With Acquired Partial Lipodystrophy: A Multicenter Retrospective Study

   The Journal of clinical endocrinology and metabolism, Vol. 109, Núm. 3, pp. e932-e944

6. Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency

   BMC Pediatrics, Vol. 24, Núm. 1

7. Clinical practice guideline on the management of vestibular schwannoma

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

8. Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

   Communications biology, Vol. 7, Núm. 1, pp. 202

9. Clustering Schizophrenia Genes by Their Temporal Expression Patterns Aids Functional Interpretation

   Schizophrenia Bulletin, Vol. 50, Núm. 2, pp. 327-338

10. Corrigendum: Assessment of mesenchymal stem/stromal cell-based therapy in K/BxN serum transfer-induced arthritis (Frontiers in Immunology, (2022), 13, (943293), 10.3389/fimmu.2022.943293)

    Frontiers in Immunology

11. Cough severity visual analog scale scores and quality of life in patients with refractory or unexplained chronic cough

    Respiratory Investigation, Vol. 62, Núm. 6, pp. 987-994

12. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

13. Developments in pharmacogenetics, pharmacogenomics, and personalized medicine

    Pharmacological Research, Vol. 200

14. Exploring low clozapine C/D ratios, inverted clozapine-norclozapine ratios and undetectable concentrations as measures of non-adherence in clozapine patients: A literature review and a case series of 17 patients from 3 studies

    Schizophrenia Research, Vol. 268, pp. 293-301

15. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

    Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149

16. Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

    The Journal of experimental medicine, Vol. 221, Núm. 2

17. Identification of copy-number variants in patients with overgrowth disorders

    Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624

18. 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

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

    eLife, Vol. 13

20. PSEN2 Mutations May Mimic Frontotemporal Dementia: Two New Case Reports and a Review

    Biomedicines, Vol. 12, Núm. 8