Jan Jongbloed, PhD

MSc: Molecular Biology, University of Groningen
PhD thesis: Specificity determinants for protein secretion in Bacillus subtilis, University of Groningen, 2002

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Papers in PubMed or Google Scholar

Keywords: Genetics, cardiomyopathies, heart failure, NGS, variant classification and curation

Selected publications

Number of publications: 58; as 1^st/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.

Awards/Grants

• “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).

Professional memberships

• 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

Invited presentations

• “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

Links

http://www.umcgenetica.nl/