Berta Estévez-Arias

6PUBLICATIONS
24CO-AUTHORS
Genetically modified field crops and pastureGene and molecular therapyEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseases
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Publications (6)

|Jul 24, 2026
Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders.

|Aug 15, 2025
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease.

Berta Estévez-Arias, Siiri Sarv, Nathalie Bonello-Palot

|May 30, 2025
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.

Florencia Pérez-Vidarte, Berta Estévez-Arias, Leslie Matalonga

|May 25, 2025
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.

Alba Segarra-Casas, Cristina Domínguez-González, Daniel Natera-de Benito

|Dec 10, 2024
Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

Berta Estévez-Arias, Leslie Matalonga, Delia Yubero

|Sep 27, 2024
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

Berta Estévez-Arias, Leslie Matalonga, Delia Yubero

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Frequent Collaborators

5 joint publications

Daniel Natera-de Benito

3 joint publications

Francesc Palau

2 joint publications

Kiran Polavarapu

2 joint publications

Laura Carrera-García