J
J. D. H. Jongbloed
Researcher at University Medical Center Groningen
Publications - 5
Citations - 100
J. D. H. Jongbloed is an academic researcher from University Medical Center Groningen. The author has contributed to research in topics: Founder effect & TNNI3. The author has an hindex of 4, co-authored 5 publications receiving 86 citations.
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Journal ArticleDOI
Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy
A. van den Wijngaard,Paul G.A. Volders,J. P. van Tintelen,J. D. H. Jongbloed,M. P. Van Den Berg,R. H. Lekanne Deprez,Marcel M.A.M. Mannens,N. Hofmann,Marjon van Slegtenhorst,Dennis Dooijes,Michelle Michels,Yvonne Arens,Roselie Jongbloed,B. J. M. Smeets +13 more
TL;DR: TNNI3 mutations were found to be rare and associated with early onset and severe clinical presentation, and were identified in very young children with a poor prognosis.
Desmin-related myopathy: a review and meta-analysis
Karin Y. van Spaendonck-Zwarts,Lotte van Hessem,J. D. H. Jongbloed,Hermien E. K. de Walle,Yassemi Capetanaki,Anneke J. van der Kooi,Irene M. van Langen,Maarten P. van den Berg,J. Peter van Tintelen +8 more
Journal ArticleDOI
Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D
K. Y. van Spaendonck-Zwarts,A. J. van der Kooi,M.P. van den Berg,E. F. Ippel,Ludolf G. Boven,W. C. Yee,A. van den Wijngaard,Esther Brusse,Jessica E. Hoogendijk,Pieter A. Doevendans,M. de Visser,J. D. H. Jongbloed,J. P. van Tintelen +12 more
TL;DR: The cardiac phenotypes of the DES founder mutations p.S13F and p.N342D are characterised by cardiac conduction disease and cardiomyopathy, often with right ventricular involvement, and may occur as an apparently isolated cardiological disorder.
Journal ArticleDOI
New clinical molecular diagnostic methods for congenital and inherited heart disease
J. D. H. Jongbloed,Anna Posafalvi,Wilhelmina S. Kerstjens-Frederikse,Richard J. Sinke,J. Peter van Tintelen +4 more
TL;DR: Next-generation sequencing (NGS) provides unprecedented opportunities to maximize mutation yields and improve clinical management, genetic counseling and monitoring of patients, and will revolutionize clinical molecular diagnostics of inherited and congenital cardiac diseases.
Journal ArticleDOI
Recurrent and founder mutations in inherited cardiac diseases in the Netherlands.
TL;DR: Since the start of joint outpatient clinics with both cardiologists and clinical geneticists, in 1996, both the number of patients and the research activities in this field have tremendously grown.