Jasper van der Smagt

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 · 353 citations

Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

Jet Bliek, Marie-José van den Bogaard, Saskia M. Maas et al. · The American Journal of Human Genetics · 2006 · 210 citations · Full text

H19 Gene Causes, Genetic Disorder, Genetics +8

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Aimée Paulussen, Alexander P.A. Stegmann, Marinus J. Blok et al. · Human Mutation · 2010 · 146 citations · Full text

Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients

Zahurul A. Bhuiyan, Jan D.H. Jongbloed, Jasper van der Smagt et al. · Circulation Cardiovascular Genetics · 2009 · 91 citations · Full text

Spectrum of K _V 2.1 Dysfunction in <i>KCNB1</i> ‐Associated Neurodevelopmental Disorders

Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra et al. · Annals of Neurology · 2019 · 68 citations · Full text