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Over onsMedische WetenschappenResearchDepartment of GeneticsStaff
University Medical Center Groningen

Jan Jongbloed, PhD

PI in Cardiogenetics
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

  • 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 and of Dutch Society for Clinical Genetic Laboratory Diagnostics

Links

http://www.umcgenetica.nl/

Laatst gewijzigd:11 april 2018 11:05