Rick de Reuver

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Alexander Hoischen, Bregje W.M. van Bon, Christian Gilissen et al. · Nature Genetics · 2010 · 507 citations

Life Sciences, Genetics, Molecular Genetics +7

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Kornelia Neveling, Ilse Feenstra, Christian Gilissen et al. · Human Mutation · 2013 · 339 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability

Jan-Maarten Cobben, Marjan M. Weiss, Fleur S. van Dijk et al. · European Journal of Medical Genetics · 2014 · 63 citations

Life Sciences, Genetics, Molecular Genetics +14