Concepedia

Juan Pablo Trujillo‐Quintero

JP

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Publications

13

Citations

1.3K

H-Index

11

Active since

2011

Affiliations

Universitat Autònoma de Barcelona(Current)

Centre for Biomedical Network Research on Rare Diseases

Instituto de Salud Carlos III

Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas

Hospital Universitari i Politècnic La Fe

Juan Pablo Trujillo‐Quintero is an author at Universitat Autònoma de Barcelona specializing in medicine, molecular genetics, and genetics.

ORCID

Top concepts

Publications per year

2011–2024

13

Publications

13

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

Martín Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro et al. · Journal of the American College of Cardiology · 2016 · 458 citations · Full text

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Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia

Massimo Bogliolo, Beatrice Schuster, Chantal Stoepker et al. · The American Journal of Human Genetics · 2013 · 303 citations · Full text

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Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations

María Castellà, Roser Pujol, Elsa Callén et al. · Blood · 2011 · 136 citations

Modelling Fanconi anemia pathogenesis and therapeutics using integration-free patient-derived iPSCs

Guang Hui Liu, Keiichiro Suzuki, Mo Li et al. · Nature Communications · 2014 · 116 citations · Full text

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Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

Juan Pablo Ochoa, María Sabater‐Molina, José Manuel García‐Pinilla et al. · Journal of the American College of Cardiology · 2018 · 96 citations · Full text

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