Jozef Hertecant

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Thomas Cullup, Ay Lin Kho, Carlo Dionisi‐Vici et al. · Nature Genetics · 2012 · 272 citations · Full text

Cell Autophagy, Mendelian Disorder, Autoimmune Disease +9

Chylomicronemia With Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects

Remco Franssen, Stephen G. Young, Frank Peelman et al. · Circulation Cardiovascular Genetics · 2010 · 106 citations · Full text

Mutations in<i>COA6</i>cause Cytochrome<i>c</i>Oxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

Fabian Baertling, Mariël A.M. van den Brand, Jozef Hertecant et al. · Human Mutation · 2014 · 81 citations

Genetics, Molecular Biology, Redox Biology +16

Megalencephalic leukoencephalopathy with subcortical cysts

Eline M. Hamilton, Pınar Tektürk, Fia Cialdella et al. · Neurology · 2018 · 81 citations · Full text

<i>EPCAM</i>mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

Sagar J. Pathak, James L. Mueller, Kevin Okamoto et al. · Human Mutation · 2018 · 72 citations · Full text