Monica Rosello Piera

6PUBLICATIONS
42CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)NeurogeneticsGene mappingElectronic and magnetic properties of condensed matter; superconductivity
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Publications (6)

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

|Nov 27, 2025
Clinical Utility of Opportunistic Genome-Wide cfDNA Prenatal Screening in Intermediate-Risk Pregnancies.

S Menao Guillén, L Pedrola, C Orellana

|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

|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

|Jul 08, 2024
New variants expand the neurological phenotype of COQ7 deficiency.

María Alcázar Fabra, Abraham J Paredes-Fuentes, Manuel Torralba Carnerero

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Frequent Collaborators

6 joint publications

Carmen Orellana Alonso

4 joint publications

Alba Gabaldón-Albero

3 joint publications

Francisco Martinez Castellano

3 joint publications

Laia Pedrola