Francisco Martínez-Castellano

14PUBLICATIONS
45CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Medical biotechnology not elsewhere classifiedNeurogeneticsGene mappingNanoelectronics
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Publications (14)

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

|Aug 17, 2025
Second Case of Type 9 Non-Photosensitive Trichothiodystrophy Caused by Homozygous Variant in the MARS1 Gene.

Miguel Antonio Lasheras-Pérez, Francisco Martínez-Castellano, Mónica Pozuelo-Ruiz

|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

|May 02, 2023
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome.

Gholson J Lyon, Marall Vedaie, Travis Beisheim

|Apr 13, 2023
N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.

Sonia Mayo, Irene Gómez-Manjón, Ana Victoria Marco-Hernández

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Frequent Collaborators

4 joint publications

Sonia Mayo

4 joint publications

Carmen Orellana Alonso

3 joint publications

Alba Gabaldón-Albero

3 joint publications

Carla Martín-Grau