Marie-José van den Boogaard

Mutations in <i>WNT10A</i> are present in more than half of isolated hypodontia cases

Marie-José van den Boogaard, Marijn Créton, Yvon Bronkhorst et al. · Journal of Medical Genetics · 2012 · 216 citations

Life Sciences, Genetics, Molecular Genetics +12

Rubinstein-Taybi syndrome in the Netherlands

Raoul C. M. Hennekam, Marie-José van den Boogaard, Barbara Sibbles et al. · American Journal of Medical Genetics · 2005 · 118 citations

Medicine, Neurology, Neuropathology +8

X-exome sequencing identifies a <i>HDAC8</i> variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

Magdaléna Harakaľová, Marie-José van den Boogaard, Richard J. Sinke et al. · Journal of Medical Genetics · 2012 · 71 citations

Life Sciences, Genetics, Molecular Genetics +17

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Chiara Klöckner, Heinrich Sticht, Pia Zacher et al. · Genetics in Medicine · 2020 · 47 citations · Full text

Life Sciences, Genetics, Neuroscience +13

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Sandra Jansen, Ilse van der Werf, A. Micheil Innes et al. · European Journal of Human Genetics · 2019 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16