![Berta Estévez Arias](/media/upload/domain_3/cache/IRSJD_Berta_Estevez_1633592064_w389.jpg)
Berta Estévez Arias
Investigador pre-doc
Research group
Berta Estévez graduated in Human Biology in 2020 from the Universitat Pompeu Fabra, in Barcelona. Later, in 2021, she studied and finished her master's studies in Advanced Genetics, at the AUniversitat Autònoma de Barcelona.
Currently, he works in the Neurogenetics and Molecular Medicine Group, in coordination with the Neuromuscular Diseases medical team at the SJD Barcelona Children’s Hospital. With her work, she provides genetic assistance to the clinic, at the same time that she participates in the group's own lines of research.
Last Publications
- Armijo JA, Fernandez-Garcia, MA, Camacho, A, Liz, M, Ortez-Gonzalez CI, Lafuente-Hidalgo, M, Laguna, LTBD, Estévez-Arias B, Carrera-García L, Exposito-Escudero JM, Jana Domínguez Carral, Nascimento-Osorio A and Natera-de Benito D Epilepsy in Duchenne and Becker muscular dystrophies. Annals of Clinical and Translational Neurology . 11(6): 1456-1464.
- Estévez-Arias B, Matalonga L, Martorell-Sampol L, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Hoenicka J, Jou-Munoz C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento-Osorio A and Natera-de Benito D Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with YR1-Congenital Myopathy Journal of neuromuscular diseases . 11(3): 647-653.
- Estévez-Arias B, Carrera-García L, Nascimento-Osorio A, Cantarero-Abad L, Hoenicka J and Palau F Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease Journal of Translational Genetics and Genomics . 6(3): 333-352.
Projects
- Project name:
- Ajuts Joan Oró per a la contractació de personal investigador predoctoral en formació (FI 2024). Beneficiari: Esteve, Berta
- Leader
- Daniel Natera de Benito
- Funding entities:
- Agaur - Agència de Gestió d'Ajuts Universitaris i de Recerca
- Code
- 2024 FI-1 00075
- Starting - finishing date:
- 2024 - 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