Ludolf G. Boven

Plakophilin-2 Mutations Are the Major Determinant of Familial Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

J. Peter van Tintelen, Mark M. Entius, Zahurul A. Bhuiyan et al. · Circulation · 2006 · 354 citations

Medicine, Cardiology, Genetics +14

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

Birgit Sikkema‐Raddatz, Lennart Johansson, Eddy N. de Boer et al. · Human Mutation · 2013 · 299 citations · Full text

Medicine, Cardiology, Genetics +17

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

J. Peter van Tintelen, Isabelle C Van Gelder, Angeliki Asimaki et al. · Heart Rhythm · 2009 · 166 citations · Full text

Medicine, Cardiology, Genetics +16

Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems

Alice S. Brooks, Aida M. Bertoli‐Avella, Grzegorz Burzynski et al. · The American Journal of Human Genetics · 2005 · 149 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

Rowida Almomani, Judith M.A. Verhagen, Johanna C. Herkert et al. · Journal of the American College of Cardiology · 2016 · 103 citations · Full text

Medicine, Genetics, Molecular Genetics +11