Jan H. Jongbloed
Groningen, GR, Netherlands
Last Updated: 09/26/2026
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Found 81 publications
Evaluation of the Diagnostic Yield of Exome-Based Panels for Congenital Heart Defects in Different Clinical Settings.
Journal: Circulation. Genomic and precision medicine
Published: July 01, 2026
Novel RYR2-A4510T Variant Presenting Both as Autosomal Dominant and Autosomal Recessive Catecholaminergic Polymorphic Ventricular Tachycardia.
Journal: Circulation. Genomic and precision medicine
Published: April 10, 2026
Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity.
Journal: Journal of cardiovascular translational research
Published: January 23, 2026
Population and family data support TNNT2 p.Arg288Cys as an intermediate effect variant in hypertrophic cardiomyopathy.
Journal: International journal of cardiology
Published: December 19, 2025
Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.
Journal: International journal of molecular sciences
Published: February 24, 2025
Systemic barriers and opportunities for equity in early implementation of genetic testing and counseling for cardiomyopathies in Tanzania.
Journal: Communications medicine
Published: December 23, 2024
Recreational and Occupational Physical Activity and Risk of Adverse Events in Truncating MYBPC3 Founder Variant Carriers.
Journal: Circulation. Genomic and precision medicine
Published: December 17, 2024
The Relevance of the Type of Ventricular Arrhythmia in Titin-Related Dilated Cardiomyopathy: A Multicenter Study.
Journal: JACC. Clinical electrophysiology
Published: September 27, 2024
Titin-related familial dilated cardiomyopathy: factors associated with disease onset.
Journal: European heart journal
Published: September 18, 2024
Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum.
Journal: Circulation. Genomic and precision medicine
Published: September 06, 2023
MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.
Journal: Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation
Published: July 04, 2023
Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.
Journal: American journal of medical genetics. Part A
Published: April 04, 2023
Last Updated: 09/26/2026