Concepedia
6
Publications
171
Citations
H-Index
2018
Active since
Affiliations
Universitat de Barcelona(Current)
Hospital Sant Joan de Déu Barcelona
Centro de Investigación Biomédica en Red
Institut d'Investigació Biomèdica de Girona
Sant Joan de Déu Research Foundation
Estefanía Martinez-Barrios is an author at Universitat de Barcelona specializing in neurogenetics, medicine, and clinical genetics.
Top concepts
GeneticsMedicinePathologyNeurogeneticsClinical Genetics
Publications per year
2018–2024
Genetic Abnormalities in Large to Giant Congenital Nevi: Beyond NRAS Mutations
Vanessa Martins da Silva, Estefanía Martinez-Barrios, Gemma Tell‐Martí et al. · Journal of Investigative Dermatology · 2018 · 99 citations
Developmental Anomaly, Mendelian Disorder, Genetic Disorder +8
Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort
Estefanía Martinez-Barrios, Georgia Sarquella‐Brugada, Alexandra Pérez‐Serra et al. · International Journal of Legal Medicine · 2023 · 25 citations · Full text
Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes
Estefanía Martinez-Barrios, Georgia Sarquella‐Brugada, Alexandra Pérez-Serra et al. · Journal of Personalized Medicine · 2022 · 13 citations · Full text
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation
Sergi César, Mónica Coll, Victoria Fiol et al. · Frontiers in Genetics · 2023 · 12 citations · Full text
Continuous Rhythm Monitoring With Implanted Loop Recorders in Children and Adolescents With Brugada Syndrome
Marco Bergonti, Giuseppe Ciconte, Jose Cruzalegui Gomez et al. · Journal of the American College of Cardiology · 2024 · 12 citations · Full text
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