GMX - USC

2025

1. A Spanish-Portuguese GWAS of progressive supranuclear palsy reveals a novel risk locus in NFASC

   European Journal of Human Genetics

2. AMOTL1-Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities

   Clinical Genetics

3. Alternative splicing analysis in a Spanish ASD (Autism Spectrum Disorders) cohort: in silico prediction and characterization

   Scientific Reports, Vol. 15, Núm. 1

4. António Amorim (in memoriam)

   Forensic Science International: Genetics

5. Balance of care activity after EMA recommendation for DPYD gene testing in Galicia

   Frontiers in Pharmacology, Vol. 16

6. Challenges of genetics in the diagnosis of sudden cardiac death. Interest for forensic and legal medicine

   Medicina Clinica, Vol. 164, Núm. 3, pp. e1-e7

7. Contribution of autosomal rare and de novo variants to sex differences in autism

   American Journal of Human Genetics, Vol. 112, Núm. 3, pp. 599-614

8. Differences in DPYD Population Frequencies Observed in Galicians Compared to Europeans and Spanish from PhotoDPYD Study

   Pharmaceuticals, Vol. 18, Núm. 4

9. Evaluating the effect of marker panel sizes on estimation of bio-geographical co-ancestry proportions

   Forensic Science International: Genetics, Vol. 78

10. Exploring legal age estimation using DNA methylation

    Forensic Science International: Genetics, Vol. 74

11. Forensic Science International: Genetics: Past, present, and future of the journal and the field

    Forensic Science International: Genetics

12. Genetic and epigenetic changes to the glucocorticoid receptor gene (NR3C1) and cognition in major depressive disorder

    Spanish Journal of Psychiatry and Mental Health

13. Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder

    Nature Genetics, Vol. 57, Núm. 6, pp. 1389-1401

14. Influence of ABCB1 polymorphisms on aripiprazole and dehydroaripiprazole plasma concentrations

    Scientific Reports, Vol. 15, Núm. 1

15. Inter-laboratory evaluation of the VISAGE enhanced tool and models for age estimation from blood and buccal cells

    Forensic Science International: Genetics, Vol. 79

16. Inter-platform evaluation of the MPSplex large-scale tri-allelic SNP panel for forensic identification

    Forensic Science International: Genetics, Vol. 77

17. Is There a Bias Towards Males in the Diagnosis of Autism? A Systematic Review and Meta-Analysis

    Neuropsychology Review, Vol. 35, Núm. 1, pp. 153-176

18. Is There a Bias Towards Males in the Diagnosis of Autism? A Systematic Review and Meta-Analysis

    Neuropsychology Review, Vol. 35, Núm. 1, pp. 153-176

19. Linking genomic and proteomic signatures to brain amyloid burden: insights from GR@ACE/DEGESCO

    Functional and Integrative Genomics, Vol. 25, Núm. 1

20. Linking prolonged childhood and adolescent loneliness to schizophrenia spectrum disorders: Results from EU-GEI study

    British Journal of Psychiatry