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 · 214 citations

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 · 117 citations

Rubinstein-taybi Syndrome, Mendelian Disorder, Craniofacial Disorder +14

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 · 68 citations

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 · 46 citations · Full text

Epileptic Encephalopathy, Developmental Biology, Mendelian Disorder +9

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

Sarah Vergult, Ellen van Binsbergen, Tom Sante et al. · European Journal of Human Genetics · 2013 · 36 citations · Full text

Developmental Biology, Cytogenetics, Genetic Disorder +9