Fundación Pública Galega de Medicina Xenómica

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 cohort analysis of familial partial lipodystrophy from two Mediterranean countries

   Diabetes, Obesity and Metabolism, Vol. 26, Núm. 11, pp. 4875-4886

3. A genome-wide association meta-analysis of all-cause and vascular dementia

   Alzheimer's and Dementia, Vol. 20, Núm. 9, pp. 5973-5995

4. A genome-wide association study meta-analysis in a European sample of stage III/IV grade C periodontitis patients ≤35 years of age identifies new risk loci

   Journal of Clinical Periodontology, Vol. 51, Núm. 4, pp. 431-440

5. Alterations in pharmacogenetic genes and their implications for imatinib resistance in Chronic Myeloid Leukemia patients from an admixed population

   Cancer Chemotherapy and Pharmacology, Vol. 94, Núm. 3, pp. 387-395

6. An Insertion Within SIRPβ1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response

   Journal of Alzheimer's Disease, Vol. 98, Núm. 2, pp. 601-618

7. Association between circulating inflammatory markers and adult cancer risk: a Mendelian randomization analysis

   eBioMedicine, Vol. 100

8. Bilateral Uveal Melanoma: An Insight into Genetic Predisposition in Four New Unrelated Patients and Review of Published Cases

   Journal of Clinical Medicine, Vol. 13, Núm. 11

9. 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

10. Clinical and Genetic Analysis of Patients With TK2 Deficiency

    Neurology: Genetics, Vol. 10, Núm. 2

11. 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

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

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

13. Cognitive and clinical predictors of a long-term course in obsessive compulsive disorder: A machine learning approach in a prospective cohort study

    Journal of Affective Disorders, Vol. 350, pp. 648-655

14. Comparison of the ABC and ACMG systems for variant classification

    European Journal of Human Genetics

15. Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort

    Pediatric Blood and Cancer

16. Desafíos de la Medicina personalizada en España: el programa IMPaCT-Genómica

    I+S: Revista de la Sociedad Española de Informática y Salud, Núm. 161, pp. 33-34

17. Design, synthesis and validation of a new Crimped Head-Piece for DNA-Encoded libraries generation

    Bioorganic and Medicinal Chemistry, Vol. 99

18. Developments in pharmacogenetics, pharmacogenomics, and personalized medicine

    Pharmacological Research, Vol. 200

19. Efficacy and safety of colistin plus beta-lactams for bone and joint infection caused by fluoroquinolone-resistant gram-negative bacilli: a prospective multicenter study

    Infection

20. Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry

    Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264