Publications by authors named "Jan D H Jongbloed"

76Publications

Prevalence and Prognostic Impact of Pathogenic Variants in Patients With Dilated Cardiomyopathy Referred for Ventricular Tachycardia Ablation.

JACC Clin Electrophysiol 2020 Sep 29;6(9):1103-1114. Epub 2020 Jul 29.

Department of Cardiology, Leiden University Medical Center, Leiden, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jacep.2020.04.025DOI Listing
September 2020

Three female patients with Danon disease presenting with predominant cardiac phenotype: a case series.

Eur Heart J Case Rep 2019 Sep 29;3(3):ytz132. Epub 2019 Jul 29.

Department of Cardiology, Thoraxcenter, University of Groningen, University Medical Center Groningen, PO Box 30.001, RB Groningen, The Netherlands.

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http://dx.doi.org/10.1093/ehjcr/ytz132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764575PMC
September 2019

Dyssynchronopathy Can be a Manifestation of Heritable Cardiomyopathy.

Circ Genom Precis Med 2019 05;12(5):e002528

Department of Cardiology (K.D., R.A.d.B., A.H.M., M.P.v.d.B.), University of Groningen, University Medical Center Groningen, the Netherlands.

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http://dx.doi.org/10.1161/CIRCGEN.119.002528DOI Listing
May 2019

Distinct molecular signature of phospholamban p.Arg14del arrhythmogenic cardiomyopathy.

Cardiovasc Pathol 2019 May - Jun;40:2-6. Epub 2018 Dec 21.

University of Groningen, University Medical Center Groningen, Department of Pathology, Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.carpath.2018.12.006DOI Listing
July 2019

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations.

Muscle Nerve 2019 03 28;59(3):357-362. Epub 2018 Nov 28.

Division of Newborn Medicine, Division of Genetics and Genomics, and The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Avenue, Boston, Massachusetts, 02115, USA.

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http://doi.wiley.com/10.1002/mus.26378
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http://dx.doi.org/10.1002/mus.26378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288247PMC
March 2019

Mutations in Causing a Novel Orthostatic Hypotension Syndrome.

Circ Res 2018 03 17;122(6):846-854. Epub 2018 Jan 17.

From the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).

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https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.117.31194
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http://dx.doi.org/10.1161/CIRCRESAHA.117.311949DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5924476PMC
March 2018

Heritability in a SCN5A-mutation founder population with increased female susceptibility to non-nocturnal ventricular tachyarrhythmia and sudden cardiac death.

Heart Rhythm 2017 12 3;14(12):1873-1881. Epub 2017 Aug 3.

Department of Cardiology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Centre, Maastricht, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2017.07.036DOI Listing
December 2017

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.

Hum Mutat 2016 May 24;37(5):457-64. Epub 2016 Feb 24.

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/humu.22969DOI Listing
May 2016

The ARVD/C genetic variants database: 2014 update.

Hum Mutat 2015 Apr 19;36(4):403-10. Epub 2015 Mar 19.

Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/humu.22765DOI Listing
April 2015

Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.

Expert Rev Mol Diagn 2015 Jan 4;15(1):61-70. Epub 2014 Nov 4.

University of Groningen, University Medical Center Groningen, Department of Genetics, CB 50, PO Box 30.001, 9700 RB Groningen, The Netherlands.

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http://www.tandfonline.com/doi/full/10.1586/14737159.2015.97
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http://dx.doi.org/10.1586/14737159.2015.976555DOI Listing
January 2015

Outcome in phospholamban R14del carriers: results of a large multicentre cohort study.

Circ Cardiovasc Genet 2014 Aug 8;7(4):455-65. Epub 2014 Jun 8.

Departments of Cardiology (I.A.W.v.R., Y.M.P., H.L.T., A.A.M.W.), Genetics (E.A.N., R.H.L.d.D., I.C.), and Epidemiology (A.H.Z.), Academic Medical Center, Amsterdam, The Netherlands; Departments of Genetics (P.A.v.d.Z., J.D.H.J., J.P.v.T.) and Cardiology (R.A.d.B., M.P.v.d.B.), University of Groningen, University Medical Center Groningen, Groningen, The Netherlands; Interuniversity Cardiology Institute of the Netherlands, Utrecht, The Netherlands (J.A.G., Y.M.P., R.N.W.H., A.A.M.W.); Departments of Cardiology (J.A.G., R.N.W.H.) and Genetics (J.G.P.), University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1161/CIRCGENETICS.113.000374DOI Listing
August 2014

Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse.

Am J Med Genet A 2014 Jan 15;164A(1):113-9. Epub 2013 Nov 15.

Department of Cardiology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.36211DOI Listing
January 2014

Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients.

J Invest Dermatol 2014 Jan 17;134(1):273-276. Epub 2013 Jun 17.

Department of Dermatology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1038/jid.2013.277DOI Listing
January 2014

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.

Hum Mutat 2013 Jul 29;34(7):1035-42. Epub 2013 Apr 29.

Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/humu.22332DOI Listing
July 2013

Left-dominant arrhythmogenic cardiomyopathy in a large family: associated desmosomal or nondesmosomal genotype?

Heart Rhythm 2013 Apr 25;10(4):548-59. Epub 2012 Dec 25.

Department of Cardiology, University Medical Center Utrecht and Interuniversity Cardiology Institute of the Netherlands, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.hrthm.2012.12.020DOI Listing
April 2013

Clinical utility gene card for: dilated cardiomyopathy (CMD).

Eur J Hum Genet 2013 Oct 19;21(10). Epub 2012 Dec 19.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

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http://www.nature.com/articles/ejhg2012276
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http://dx.doi.org/10.1038/ejhg.2012.276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778334PMC
October 2013

Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene.

Am J Med Genet A 2011 Oct 9;155A(10):2566-70. Epub 2011 Sep 9.

Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.34218DOI Listing
October 2011

Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy.

Circulation 2010 May 10;121(20):2169-75. Epub 2010 May 10.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Hanzeplein 1, PO Box 30001, 9700 RB Groningen, the Netherlands.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.109.929646DOI Listing
May 2010

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.

Heart Rhythm 2010 Aug 24;7(8):1058-64. Epub 2010 Apr 24.

Department of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands.

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http://dx.doi.org/10.1016/j.hrthm.2010.04.023DOI Listing
August 2010

Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.

Circ Res 2009 Aug 9;105(4):375-82. Epub 2009 Jul 9.

Department of Cardiovascular Medicine, University of Oxford, Wellcome Trust Centre for Human Genetics, Oxford United Kingdom.

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http://dx.doi.org/10.1161/CIRCRESAHA.109.196055DOI Listing
August 2009

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Hum Mutat 2009 Sep;30(9):1278-83

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1002/humu.21064DOI Listing
September 2009

Subcellular localization of TatAd of Bacillus subtilis depends on the presence of TatCd or TatCy.

J Bacteriol 2009 Jul 24;191(13):4410-8. Epub 2009 Apr 24.

Department of Genetics, University of Groningen, Groningen Biomolecular Sciences and Biotechnology Institute, Haren, The Netherlands.

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http://dx.doi.org/10.1128/JB.00215-09DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2698479PMC
July 2009

Relaxed specificity of the Bacillus subtilis TatAdCd translocase in Tat-dependent protein secretion.

J Bacteriol 2009 Jan 31;191(1):196-202. Epub 2008 Oct 31.

Molecular Genetics Group, Groningen Biomolecular Sciences and Biotechnology Institute, University of Groningen, Haren, The Netherlands.

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http://dx.doi.org/10.1128/JB.01264-08DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2612438PMC
January 2009

Proteomic dissection of potential signal recognition particle dependence in protein secretion by Bacillus subtilis.

Proteomics 2006 Jun;6(12):3636-48

Department of Pharmaceutical Biology, University of Groningen, The Netherlands.

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http://dx.doi.org/10.1002/pmic.200500560DOI Listing
June 2006

Bifunctional TatA subunits in minimal Tat protein translocases.

Trends Microbiol 2006 Jan 21;14(1):2-4. Epub 2005 Nov 21.

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http://dx.doi.org/10.1016/j.tim.2005.11.001DOI Listing
January 2006

Genes involved in SkfA killing factor production protect a Bacillus subtilis lipase against proteolysis.

Appl Environ Microbiol 2005 Apr;71(4):1899-908

Department of Pharmaceutical Biology, University of Groningen, Hanzeplein 1, P.O. Box 30 001, 9700 RB Groningen, the Netherlands.

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http://dx.doi.org/10.1128/AEM.71.4.1899-1908.2005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1082511PMC
April 2005

Two minimal Tat translocases in Bacillus.

Mol Microbiol 2004 Dec;54(5):1319-25

Department of Genetics, Groningen Biomolecular Sciences and Biotechnology Institute, Kerklaan 30, 9751 NN Haren, the Netherlands.

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http://dx.doi.org/10.1111/j.1365-2958.2004.04341.xDOI Listing
December 2004

Type I signal peptidases of Gram-positive bacteria.

Biochim Biophys Acta 2004 Nov;1694(1-3):279-97

Department of Genetics, Groningen Biomolecular Sciences and Biotechnology Institute, University of Groningen, Kerklaan 30, 9751 NN Haren, Netherlands.

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http://dx.doi.org/10.1016/j.bbamcr.2004.05.006DOI Listing
November 2004

Visualization of differential gene expression by improved cyan fluorescent protein and yellow fluorescent protein production in Bacillus subtilis.

Appl Environ Microbiol 2004 Nov;70(11):6809-15

Department of Genetics, Groningen Biomolecular Sciences and Biotechnology Institute, University of Groningen, Haren, The Netherlands.

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http://dx.doi.org/10.1128/AEM.70.11.6809-6815.2004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC525234PMC
November 2004

Subcellular sites for bacterial protein export.

Mol Microbiol 2004 Sep;53(6):1583-99

Department of Genetics, University of Groningen, Groningen Biomolecular Sciences and Biotechnology Institute, Kerklaan 30, 9751 NN Haren, The Netherlands.

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http://dx.doi.org/10.1111/j.1365-2958.2004.04278.xDOI Listing
September 2004

Selective contribution of the twin-arginine translocation pathway to protein secretion in Bacillus subtilis.

J Biol Chem 2002 Nov 5;277(46):44068-78. Epub 2002 Sep 5.

Department of Genetics, Groningen Biomolecular Sciences and Biotechnology Institute, Kerklaan 30, 9751 NN Haren, The Netherlands.

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http://dx.doi.org/10.1074/jbc.M203191200DOI Listing
November 2002

Functional genomic analysis of the Bacillus subtilis Tat pathway for protein secretion.

J Biotechnol 2002 Sep;98(2-3):243-54

Department of Pharmaceutical Biology, University of Groningen, A. Deusinglaan 1, The Netherlands.

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http://dx.doi.org/10.1016/s0168-1656(02)00135-9DOI Listing
September 2002

Detergent-independent in vitro activity of a truncated Bacillus signal peptidase.

Microbiology (Reading) 2001 Apr;147(Pt 4):909-917

Department of Genetics, Groningen Biomolecular Sciences and Biotechnology Institute, PO Box 14, 9750 AA Haren, The Netherlands1.

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http://dx.doi.org/10.1099/00221287-147-4-909DOI Listing
April 2001