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)

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|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 <i>PCDH19</i> 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

Laia Pedrola

Carla Martín-Grau

Sandra Monfort

Silvestre Oltra

Alfonso Caro-Llopis

J V Cervera

R Quiroga

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