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 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

3. 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

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

   eBioMedicine, Vol. 100

5. 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

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

   Bioorganic and Medicinal Chemistry, Vol. 99

7. Developments in pharmacogenetics, pharmacogenomics, and personalized medicine

   Pharmacological Research, Vol. 200

8. Fine-mapping analysis including over 254,000 East Asian and European descendants identifies 136 putative colorectal cancer susceptibility genes

   Nature Communications, Vol. 15, Núm. 1

9. Gene editing: a near future for the treatment of genetic kidney diseases

   Kidney International

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

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

11. Genetic linkage analysis of head and neck cancer in a Spanish family

    Oral Diseases, Vol. 30, Núm. 3, pp. 1032-1039

12. Granulomatous rosacea: a clue to the diagnosis of STAT1 gain of function in a child with immunodeficiency

    Clinical and Experimental Dermatology, Vol. 49, Núm. 5, pp. 516-518

13. High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures

    International Journal of Molecular Sciences, Vol. 25, Núm. 4

14. Host gene expression signatures to identify infection type and organ dysfunction in children evaluated for sepsis: a multicentre cohort study

    The Lancet Child and Adolescent Health, Vol. 8, Núm. 5, pp. 325-338

15. Towards precision medicine of long-acting aripiprazole through population pharmacokinetic modelling

    Psychiatry Research, Vol. 333

16. Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium

    Gastroenterologia y Hepatologia, Vol. 47, Núm. 3, pp. 293-318

17. Yao syndrome: a clinical observation of a non-paradigmatic autoinflammatory disease

    JDDG - Journal of the German Society of Dermatology