Alba Gabaldón-Albero

5PUBLICATIONS
13CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)NeurogeneticsGene mappingInfant and child health
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Publications (5)

|Jun 26, 2026
Clinical and Genetic Characterization of Esophageal Atresia: A Contemporary Cohort Integrating Phenotyping and Genomic Testing.

|Jul 07, 2025
Genetic landscape of hereditary transthyretin amyloidosis in Spain: a multicentric retrospective study.

Marta Domínguez-Martínez, Alfonso Caro-Llopis, Carla Martín-Grau

|Feb 13, 2025
Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases.

Carmen Orellana, Monica Rosello, Amparo Sanchis

|Dec 28, 2024
Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period.

Alba Gabaldon-Albero, Carla Martin-Grau, Miguel Marti-Masanet

|Oct 26, 2024
Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants.

Alba Gabaldón-Albero, Patricia Smeyers, Sara Hernández-Muela

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Frequent Collaborators

4 joint publications

Carmen Orellana Alonso

4 joint publications

Monica Rosello Piera

3 joint publications

Carla Martín-Grau

3 joint publications

Francisco Martinez Castellano