Publications by authors named "Jan D H Jongbloed"

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Titin-related familial dilated cardiomyopathy: factors associated with disease onset.
Renee Johnson, Robert A Fletcher, Stacey Peters, Monique Ohanian, Magdalena Soka, Jan D H Jongbloed

Eur Heart J· December 2025

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Systemic barriers and opportunities for equity in early implementation of genetic testing and counseling for cardiomyopathies in Tanzania.
Mohamed Zahir Alimohamed, Abdilahi Kiula, Lulu Fundikira, Nuru Letara, Henry Mayala, Jan D H Jongbloed

Commun Med (Lond)· November 2025

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The Relevance of the Type of Ventricular Arrhythmia in Titin-Related Dilated Cardiomyopathy: A Multicenter Study.
Micaela Ebert, Marta de Riva, Adrianus P Wijnmaalen, Daniela Q C M Barge-Schaapveld, Marianne Bootsma, Jan D H Jongbloed

JACC Clin Electrophysiol· June 2025

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Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.
Eddy N de Boer, Arjen J Scheper, Dennis Hendriksen, Bart Charbon, Gerben van der Vries, Jan D H Jongbloed

Int J Mol Sci· March 2025

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Recreational and Occupational Physical Activity and Risk of Adverse Events in Truncating Founder Variant Carriers.
Fahima Hassanzada, Mark Jansen, Freyja H M van Lint, Laurens P Bosman, Amand F Schmidt, Jan D H Jongbloed

Circ Genom Precis Med· December 2024

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Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study.
Mark Jansen, Remco de Brouwer, Fahima Hassanzada, Angela E Schoemaker, Amand F Schmidt, Jan D H Jongbloed

JACC Heart Fail· January 2024

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Phenotypic and Genetic Factors Associated with Absence of Cardiomyopathy Symptoms in PLN:c.40_42delAGA Carriers.
Esteban A Lopera-Maya, Shuang Li, Remco de Brouwer, Ilja M Nolte, Justin van Breen, Jan D H Jongbloed

J Cardiovasc Transl Res· December 2023

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A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.
Emilia Nagyova, Edgar T Hoorntje, Wouter P Te Rijdt, Laurens P Bosman, Petros Syrris, Jan D H Jongbloed

J Cardiovasc Transl Res· December 2023

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Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic -Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum.
Laura A Grutters, Jolien S Klein Wassink-Ruiter, Trijnie Dijkhuizen, Hessel P Nijenhuis, Jan D H Jongbloed

Circ Genom Precis Med· October 2023

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Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.
P Christian Remmelzwaal, Martijn V Verhagen, Jan D H Jongbloed, Peter C van den Akker, Hermine E Veenstra-Knol

Am J Med Genet A· September 2023

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MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Luisa Marsili, Freyja H M van Lint, Francesco Russo, Karin Y van Spaendonck-Zwarts, Flavie Ader, Jan D H Jongbloed

Neth Heart J· August 2023

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Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin () Truncating Variant.
Edgar T Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N Parikh, Jan D H Jongbloed

Circ Genom Precis Med· February 2023

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Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of Founder Variants.
Mark Jansen, Maike Schuldt, Beau O van Driel, Amand F Schmidt, Imke Christiaans, Jan D H Jongbloed

Int J Mol Sci· February 2023

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SEPT-GD: A decision tree to prioritise potential RNA splice variants in cardiomyopathy genes for functional splicing assays in diagnostics.
Mohamed Z Alimohamed, Ludolf G Boven, Krista K van Dijk, Yvonne J Vos, Yvonne M Hoedemaekers, Jan D H Jongbloed

Gene· January 2023

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KBTBD13 is a novel cardiomyopathy gene.
Josine M de Winter, Karlijn Bouman, Joshua Strom, Mei Methawasin, Jan D H Jongbloed

Hum Mutat· December 2022

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A new prediction model for ventricular arrhythmias in arrhythmogenic right ventricular cardiomyopathy.
Julia Cadrin-Tourigny, Laurens P Bosman, Anna Nozza, Weijia Wang, Rafik Tadros, Jan D H Jongbloed

Eur Heart J· August 2022

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Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.
Mathilde C S C Vermeer, Daniela Andrei, Duco Kramer, Albertine M Nijenhuis, Yvonne M Hoedemaekers, Jan D H Jongbloed

Exp Dermatol· June 2022

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Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics.
Mohamed Z Alimohamed, Helga Westers, Yvonne J Vos, K Joeri Van der Velde, Rolf H Sijmons, Jan D H Jongbloed

Front Genet· March 2022

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The genetic architecture of Plakophilin 2 cardiomyopathy.
Annika M Dries, Anna Kirillova, Chloe M Reuter, John Garcia, Hana Zouk, Jan D H Jongbloed

Genet Med· October 2021

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Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy.
Annika M Dries, Anna Kirillova, Chloe M Reuter, John Garcia, Hana Zouk, Jan D H Jongbloed

Genet Med· October 2021

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Case series, chemotherapy-induced cardiomyopathy: mind the family history!
Setareh Moghadasi, Rienke Fijn, Saskia L M A Beeres, Hennie Bikker, Jan D H Jongbloed

Eur Heart J Case Rep· October 2021

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Dynamic loading of human engineered heart tissue enhances contractile function and drives a desmosome-linked disease phenotype.
Jacqueline M Bliley, Mathilde C S C Vermeer, Rebecca M Duffy, Ivan Batalov, Duco Kramer, Jan D H Jongbloed

Sci Transl Med· July 2021

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Diagnostic yield of targeted next generation sequencing in 2002 Dutch cardiomyopathy patients.
Mohamed Z Alimohamed, Lennart F Johansson, Anna Posafalvi, Ludolf G Boven, Krista K van Dijk, Jan D H Jongbloed

Int J Cardiol· June 2021

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International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.
Cynthia A James, Jan D H Jongbloed, Ray E Hershberger, Ana Morales, Daniel P Judge

Circ Genom Precis Med· June 2021

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Sudden Cardiac Death Prediction in Arrhythmogenic Right Ventricular Cardiomyopathy: A Multinational Collaboration.
Julia Cadrin-Tourigny, Laurens P Bosman, Weijia Wang, Rafik Tadros, Aditya Bhonsale, Jan D H Jongbloed

Circ Arrhythm Electrophysiol· January 2021

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