Jan Jongbloed, PhD
Number of publications: 58; as 1st/2nd author: 11; as second to last/last author: 11
Citations: 5324; H-index: 33
- Herkert JC Abbott, K, …, van den Berg MP, van Langen IM, Jongbloed JDH. A stepwise approach including WES targeting a paediatric dilated cardiomyopathy gene panel potentially yields a diagnosis in 50% of patients. Genet Med. 2018 Mar 8. doi: 10.1038/gim.2018.9.
- van Waning JI, …, Jongbloed JDH, Majoor-Krakauer D. Cardiac and genetic features of noncompaction cardiomyopathy and it’s relation to outcome: A Dutch multicenter study of 327 pediatric and adult patients. J. Am Coll Cardiol. 2018 71:711-722.
- Almomani R*, Verhagen JM*, Herkert JC, …, Jongbloed JDH*, van de Laar IM.* Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy. *Equal authorship. J Am Coll Cardiol. 2016:67:515-25.
- van Spaendonck-Zwarts KY, Pósafalvi A, van den Berg MP, Hilfiker-Kleiner D, Bollen I; Sliwa K, Alders, M, Almomani R, van Langen IM, van der Meer P, Sinke RJ, van der Velden J, van Veldhuisen DJ, van Tintelen JP*, Jongbloed JDH*. Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy *Equal authorship. Eur Heart J 2014;35):2165-73.
- Sikkema-Raddatz B, Johansson LF, de Boer EN, …, Sijmons RH, Jongbloed JDH, Sinke RJ.Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. Hum Mutat. 2013;34:1035-42.
- “Studying the healthy to predict disease: why are some phospholamban p.Arg14del carriers asymptomatic while others die young and unexpectedly?" project: CDO17.0031/2017-2/324 (€46,000) (co-applicant); Healthy Ageing Pilot UMCG; awarded 2017; collaborators: Dr. P.A. van der Zwaag (project leader); Dr. J.D.H. Jongbloed; Dr. S.S. Sanna, Prof. R.A. de Boer & Prof. P. van der Harst (principal participants).
- “Exome sequencing: an unprecedented opportunity to maximize mutation yields and identify novel disease genes in inherited cardiomyopathies. ” project: 2010B164 (€240,000) (applicant) ; Netherlands Heart Foundation; 2011; collaborators: Dr. J.D.H. Jongbloed (project leader); Dr. J.P. van Tintelen; Prof. M.P. van den Berg, Prof. R.M.W. Hofstra, Prof. R.J. Sinke, Prof. A.H. Suurmeijer (principal participants).
- “Rapid and complete genetic screening in cardiomyopathy patients”, project: 0903-41 (€99,000) (co-applicant); 2010; Nuts-OHRA fund. collaborators: Prof. R.J. Sinke (project leader); Dr. J.D.H. Jongbloed; Dr. J.P. van Tintelen; Prof. M.P. van den Berg, Prof. E. Buskens (principal participants).
- “Development of cost-effective genetic screening in ARVC patients”, project 674201 (€75,000) (co-applicant ) UMCG funding, 2009 . collaborators: Prof. R.J. Sinke (project leader); Dr. J.D.H. Jongbloed; Dr. J.P. van Tintelen; Prof. M.P. van den Berg, Prof. E. Buskens (principal participants).
- 2018-present: steering committee GENCOR (Netherlands Heart Institue, working group on inherited cardiac disorders)
- 2017-present: steering committee ClinGen consortium ARVC/DCM curation
- 2014-present: member expert panel ClinGen consortium HCM curation.
- 2014-present: member ClinGen cardiovascular disease Working Group.
- 2015-present: member working group on diagnostic techniques of the Dutch Society for Clinical Genetic Laboratory Diagnostics
- 2014-2015: chair working group on diagnostic techniques of the Dutch Society for Clinical Genetic Laboratory Diagnostics
- 2013-2015: member visitation committee of the Dutch Society for Clinical Genetic Laboratory Diagnostics
- 2012-2014: member working group on NGS of the Dutch Society for Clinical Genetic Laboratory Diagnostics
- 2004-present: member Netherlands Society of Human Genetics.
- 2004-present: member of Dutch Society for Clinical Genetic Laboratory Diagnostics
- “Whole exome sequencing identifies ALPK3 as a new disease gene causing both severe pediatric and ‘milder’ adult-onset cardiomyopathies”, Joint BeSHG/NVHG meeting, Feb 2016
- “Stand van zaken/voortgang NGS werkgroep 2”, themadag VKGL Nov 2014
- “WGS in neonates in trouble” NBIC course “NGS in de Medical Diagnostics”, EMC Rotterdam, Oct 2014
- “Gene panels: the cardio experience” NBIC course on NGS in de Medical Diagnostics, EMC Rotterdam, Oct 2014
- “Targeted Next-Generation Sequencing Can Replace Sanger Sequencing in Clinical Diagnostics”, Clinical exome sequencing meeting, Lisbon, Portugal.
- “Application of (targeted) next generation sequencing (NGS) in clinical genetic diagnostics of cardiomyopathies”, 10th meeting of the myocardial and pericardial diseases (ESC working), Oct 2013, Prague, Czech Republic
- “NGS techniques and haplotype sharing analyses result in the identification of novel genetic causes of cardiomyopathies”, NVHG, 2012, Arnhem
- “Contribution of Desmocollin-2 mutations to Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)”, NVHG, 2007, Veldhoven
Supervisor of PhD students (2 finished, 2 ongoing), MSc students and technicians in training (>15)
Reviewer for Association Française contre les Myopathies, Foundation for Science and Technology Portugal – FCT, Netherlands Heart Foundation. Reviewer for s cientific journals: BBA Molecular Cell Research, BMC Medical Genetics, Circulation: Genomic and Precision Medicine, European Journal Cell Biology, European Journal of Heart Failure, European Journal of Human Genetics, Journal of Medical Genetics, Molecular Case Studies, Molecular Medicine, PLOS one
|Last modified:||10 July 2018 3.09 p.m.|