GMX - USC

2025

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

   Clinical Genetics

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

   Scientific Reports, Vol. 15, Núm. 1

3. António Amorim (in memoriam)

   Forensic Science International: Genetics

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

   Frontiers in Pharmacology, Vol. 16

5. 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

6. 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

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

   Forensic Science International: Genetics, Vol. 78

8. Exploring legal age estimation using DNA methylation

   Forensic Science International: Genetics, Vol. 74

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

   Forensic Science International: Genetics

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

    Spanish Journal of Psychiatry and Mental Health

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

    Scientific Reports, Vol. 15, Núm. 1

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

    Forensic Science International: Genetics, Vol. 77

13. 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

14. 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

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

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

16. Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

    Nature Genetics

17. Performance comparison of a previously validated microhaplotype panel and a forensic STR panel for DNA mixture analysis

    Forensic Science International: Genetics, Vol. 74

18. Pharmacogenomic Study of SARS-CoV-2 Treatments: Identifying Polymorphisms Associated with Treatment Response in COVID-19 Patients

    Biomedicines, Vol. 13, Núm. 3

19. Prediction of pharmacological response in OCD using machine learning techniques and clinical and neuropsychological variables

    Spanish Journal of Psychiatry and Mental Health, Vol. 18, Núm. 1, pp. 51-57

20. Shaping current European mitochondrial haplogroup frequency in response to infection: the case of SARS-CoV-2 severity

    Communications biology, Vol. 8, Núm. 1, pp. 33