Adrián Alcalá San Martín
Ayudante de investigación
Research group
Professional network profiles
Last Publications
- Amato ME, Balsells S, Martorell-Sampol L, Alcalá-San Martin A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS and Ortigoza-Escobar JD Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 63-72.
- Soliani L, Alcalá-San Martin A, Balsells S, Hernando-Davalillo C and Ortigoza-Escobar JD Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature Movement Disorders Clinical Practice . 10(4): 547-557.
- Hernando-Davalillo C, Alcalá-San Martin A, Borregán M and Ortigoza-Escobar JD De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder CLINICAL GENETICS . 102(5): 434-437.
Projects
- Project name:
- TRI-VIAE: Exploración tridimensional de la epigenética en trastornos del neurodesarrollo: potencial diagnóstico, aplicabilidad en la clínica y descubrimiento de nuevas firmas epigenéticas.
- Leader
- Mercedes Serrano Gimaré
- Funding entities:
- Serrano Gimaré, Mercedes, Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD
- Code
- PI24/00482
- Starting - finishing date:
- 2025 - 2027
- Project name:
- SGR 2022-2024_Precision Medicine of Genetic and Rare Diseases (PrecisionRare)
- Leader
- Francesc Palau Martínez
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2021 SGR 01610
- Starting - finishing date:
- 2022 - 2025