Publicacións (57) Publicacións de Juan Pablo Ochoa

2024

  1. Biallelic Loss of Function Variants in Myocardial Zonula Adherens Protein Gene (MYZAP) Cause a Severe Recessive Form of Dilated Cardiomyopathy

    Circulation: Heart Failure

  2. Clinical Features and Outcomes of Pediatric MYH7-Related Dilated Cardiomyopathy

    Journal of the American Heart Association, Vol. 13, Núm. 21, pp. e036208

  3. Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies

    Genes, Vol. 15, Núm. 6

  4. Double somatic mosaicism in Marfan syndrome

    American Journal of Medical Genetics, Part A, Vol. 194, Núm. 12

  5. Emerging Themes in Genetics of Hypertrophic Cardiomyopathy: Current Status and Clinical Application

    Canadian Journal of Cardiology

  6. Intermediate-effect size p.Arg637Gln in FHOD3 increases risk of HCM and is associated with an aggressive phenotype in homozygous carriers

    Journal of Medical Genetics, Vol. 61, Núm. 5, pp. 423-427

  7. Penetrance of Dilated Cardiomyopathy in Genotype-Positive Relatives

    Journal of the American College of Cardiology, Vol. 83, Núm. 17, pp. 1640-1651

  8. Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy

    JACC: Clinical Electrophysiology, Vol. 10, Núm. 6, pp. 1178-1190

  9. Rare Genetic Variants in Young Adults Requiring Pacemaker Implantation

    JACC: Clinical Electrophysiology, Vol. 10, Núm. 10, pp. 2250-2260

  10. Role of TBX20 Truncating Variants in Dilated Cardiomyopathy and Left Ventricular Noncompaction

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004404

2023

  1. Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy

    Genes, Vol. 14, Núm. 3

  2. Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype-phenotype correlation

    European heart journal. Cardiovascular Imaging, Vol. 25, Núm. 1, pp. 75-85

  3. Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain

    Amyloid, Vol. 30, Núm. 2, pp. 199-207

  4. Titin Missense Variants as a Cause of Familial Dilated Cardiomyopathy

    Circulation

  5. Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy

    Cell reports, Vol. 42, Núm. 12, pp. 113490

  6. iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy

    Circulation Research, Vol. 133, Núm. 2, pp. 108-119

2022

  1. Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes

    Journal of medical genetics, Vol. 59, Núm. 8, pp. 768-775

  2. Clinical Risk Score to Predict Pathogenic Genotypes in Patients With Dilated Cardiomyopathy

    Journal of the American College of Cardiology, Vol. 80, Núm. 12, pp. 1115-1126

  3. Combination of late gadolinium enhancement and genotype improves prediction of prognosis in non-ischaemic dilated cardiomyopathy

    European Journal of Heart Failure, Vol. 24, Núm. 7, pp. 1183-1196

  4. 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