R. J. E. Jongbloed

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

Henk Meljer, Esther de Graaff, Diane M.L. Merckx et al. · Human Molecular Genetics · 1994 · 130 citations

Life Sciences, Genetics, Molecular Genetics +7

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

Imke Christiaans, Eline A. Nannenberg, Dennis Dooijes et al. · Netherlands Heart Journal · 2010 · 79 citations · Full text

Medicine, Cardiology, Genetics +10

Defective complex I assembly due to <i>C20orf7</i> mutations as a new cause of Leigh syndrome

Mike Gerards, Wim J. Sluiter, B.J.C. van den Bosch et al. · Journal of Medical Genetics · 2009 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

Arthur van den Wijngaard, Paul G.A. Volders, J. Peter van Tintelen et al. · Netherlands Heart Journal · 2011 · 63 citations · Full text

Medicine, Cardiology, Genetics +9

Novel KCNQ1 and HERG missense mutations in Dutch long-QT families

R. J. E. Jongbloed, Arthur A.M. Wilde, J. L. M. C. Geelen et al. · Human Mutation · 1999 · 63 citations

Medicine, Cardiology, Genetics +16