Carla Martín-Grau

9PUBLICATIONS
22CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)NeurogeneticsGene mappingCellular immunologyPsychosocial aspects of childbirth and perinatal mental health
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Publications (9)

|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

|Jun 27, 2024
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern.

Alba Gabaldon-Albero, Lourdes Cordon, Amparo Sempere

|May 25, 2024
Prenatal Genome-Wide Cell-Free DNA Screening: Three Years of Clinical Experience in a Hospital Prenatal Diagnostic Unit in Spain.

Laia Pedrola Vidal, Mónica Roselló Piera, Carla Martín-Grau

|Jun 26, 2023
False-seronegative HCV infection motivated by interference with cryoglobulins.

Gemma Recio Comí, Carmen Molina Clavero, Sandra Calabuig Ballester

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Frequent Collaborators

4 joint publications

Carmen Orellana Alonso

4 joint publications

Laia Pedrola Vidal

3 joint publications

Alba Gabaldón-Albero

3 joint publications

Monica Rosello Piera