Hans Scheffer

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon et al. · New England Journal of Medicine · 2012 · 1.6K citations · Full text

Guidelines for diagnostic next-generation sequencing

Gert Matthijs, Erika Souche, Mariëlle Alders et al. · European Journal of Human Genetics · 2015 · 497 citations · Full text

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Laurie Robak, Iris E. Jansen, Jeroen van Rooij et al. · Brain · 2017 · 440 citations · Full text

Genetics, Genetic Epidemiology, Variant Burden +16

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

Suzanne Lesage, Valérie Drouet, Elisa Majounie et al. · The American Journal of Human Genetics · 2016 · 427 citations · Full text

Cell Autophagy, Mitophagy, Mitochondrial Function +7

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 406 citations · Full text