Jasper J. van der Smagt

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

David Ng, Nalin Thakker, Connie M. Corcoran et al. · Nature Genetics · 2004 · 322 citations

Life Sciences, Genetics, Molecular Genetics +10

<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah M. Schutz et al. · Journal of Medical Genetics · 2017 · 256 citations · Full text

Life Sciences, Neurology, Neuroscience +17

The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy

Yvonne M. Hoedemaekers, Kadir Çalişkan, Michelle Michels et al. · Circulation Cardiovascular Genetics · 2010 · 243 citations · Full text

Medicine, Cardiology, Genetics +17

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld et al. · Genetics in Medicine · 2018 · 220 citations

Life Sciences, Genetics, Molecular Genetics +7

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Moniek G.P.J. Cox, Paul A. van der Zwaag, Christian van der Werf et al. · Circulation · 2011 · 213 citations · Full text

Medicine, Cardiology, Internal Medicine +7