Phenotype and psychometric characterization of Phelan-McDermid syndrome patients: pioneering towards personalized medicine
This analysis presents new data on the best potential endpoints, for a future clinical study exploring vafidemstat actionability for <i>SHANK3</i>-associated psychiatric disorders, constituting a good example of how Precision Medicine may open new avenues to understand and treat Central Nervous System (CNS) disorders, pioneering individual management in PMS.
Authors
- Cristina Bel‐Fenellós
- Jordi Xaus (ORCID: https://orcid.org/0000-0002-6896-8814)
- Tamara Maes (ORCID: https://orcid.org/0000-0001-5104-6867)
- Pablo Lapunzina (ORCID: https://orcid.org/0000-0002-6324-4825)
- Carlos Buesa (ORCID: https://orcid.org/0000-0001-6293-2514)
- Filippo Ciceri
- Jair Tenorio (ORCID: https://orcid.org/0000-0002-5308-2316)
- Julián Nevado
Institutions
- Universidad Complutense de Madrid (ES)
- Cornell University (US)
- Hospital Universitario La Paz (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Centro de Investigación Biomédica en Red (ES)
- Oryzon Genomics (Spain) (ES)
Publication Details
- Journal
- Frontiers in Psychiatry
- Published
- 2025-03-04
- DOI
- https://doi.org/10.3389/fpsyt.2025.1511962
- Citations
- 1
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.82