Unidade de investigación
Servicio
Publicacións nas que colabora con Juan Pablo Ochoa (23)
2024
2023
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iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy
Circulation Research, Vol. 133, Núm. 2, pp. 108-119
2022
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European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases
Heart Rhythm, Vol. 19, Núm. 7, pp. e1-e60
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European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, Vol. 24, Núm. 8, pp. 1307-1367
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Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree
Scientific Reports, Vol. 12, Núm. 1
2021
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A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome
npj Genomic Medicine, Vol. 6, Núm. 1
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Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy
European Heart Journal, Vol. 42, Núm. 32, pp. 3063-3073
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Association of Left Ventricular Systolic Dysfunction among Carriers of Truncating Variants in Filamin C with Frequent Ventricular Arrhythmia and End-stage Heart Failure
JAMA Cardiology, Vol. 6, Núm. 8, pp. 891-901
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Clinical utility of genetic testing in patients with dilated cardiomyopathy
Medicina Clinica, Vol. 156, Núm. 10, pp. 485-495
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Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry
Revista Espanola de Cardiologia, Vol. 74, Núm. 3, pp. 216-224
2020
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Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis
Journal of the American College of Cardiology, Vol. 76, Núm. 2, pp. 186-197
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Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy
Circulation: Genomic and Precision Medicine, Vol. 13, Núm. 3, pp. E002905
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Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy
Clinical Genetics, Vol. 98, Núm. 1, pp. 86-90
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Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy
Heart, Vol. 106, Núm. 17, pp. 1342-1348
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Prognostic implications of pathogenic truncating variants in the TTN gene
International Journal of Cardiology, Vol. 316, pp. 180-183
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The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals
European Journal of Medical Genetics, Vol. 63, Núm. 12
2019
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Effectiveness of the 2014 european society of cardiology guideline on sudden cardiac death in hypertrophic cardiomyopathy: A systematic review and meta-analysis
Heart, Vol. 105, Núm. 8, pp. 623-631
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First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene
Revista Espanola de Cardiologia, Vol. 72, Núm. 7, pp. 585-587
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Reply: Revisiting Genome Sequencing Data in Light of Novel Disease Gene Associations
Journal of the American College of Cardiology
2018
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Approach to familial heart diseases from Genomic Medicine
Revista Colombiana de Cardiologia