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
- Di Feo MF, Oghabian A, Nippala E, Gautel M, Jungbluth H, Forzano F, Malfatti E, Castiglioni C, Krey I, Gomez Andres D, Brady AF, Iascone M, Cereda A, Pezzani L, Natera-de Benito D, Nascimiento A, Estévez-Arias B, Kurbatov SA, Attie-Bitach T, Nampoothiri S, Ryan E, Morrow M, Gorokhova S, Chabrol B, Sinisalo J, Tolppanen H, Tolva J, Munell F, Camacho Soriano J, Sanchez Duran MA, Johari M, Tajsharghi H, Hackman P, Udd B and Savarese M Inferring disease course from differential exon usage in the wide titinopathy spectrum. Annals of Clinical and Translational Neurology . 11(10): 2745-2755.
- Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases EUROPEAN JOURNAL OF HUMAN GENETICS . : .
- Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez-Gonzalez CI, Martorell-Sampol L, Estévez-Arias B, Matalonga L, Laurie S, Jou-Munoz C, Lau J, Thompson R, Shen X, Engel AG, Nascimento-Osorio A, Lochmüller H and Selcen D Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases PEDIATRIC NEUROLOGY . 157: 5-13.
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
News
-
An innovative genetic analysis by Sant Joan de Déu and CNAG successfully diagnoses 23 children with neuromuscular diseases
The research, published in the scientific journal European Journal of Human Genetics, has been enabled by SolveRD, a project funded by the European Commission, in which Hospital Sant Joan de Déu and the Centro Nacional de Análisis Genómico (CNAG) participate