Carmen Orellana Alonso

9PUBLICATIONS
48CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)NeurogeneticsGene mappingAutoimmunity
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Publications (9)

|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

|Jan 11, 2025
Atypical B-Cell Acute Lymphoblastic Leukemia with iAMP21 in the Context of Constitutional Ring Chromosome 21: A Case Report and Review of the Genetic Insights.

José Vicente Gil, Gayane Avetisyan, Sandra de Las Heras

|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

6 joint publications

Monica Rosello Piera

4 joint publications

Laia Pedrola

4 joint publications

Alba Gabaldón-Albero

4 joint publications

Francisco Martinez Castellano