Jolanda Schieving

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 339 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Lisenka E.L.M. Vissers, K.J.M. van Nimwegen, Jolanda Schieving et al. · Genetics in Medicine · 2017 · 283 citations · Full text

Medicine, Molecular Genetics, Neurology +17

<i>GRIN2A</i> -related disorders: genotype and functional consequence predict phenotype

Vincent Strehlow, Henrike Heyne, Danique R.M. Vlaskamp et al. · Brain · 2018 · 229 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

J.S. Witteveen, Marjolein H. Willemsen, Thaís Caroline Dallabona Dombroski et al. · Nature Genetics · 2016 · 132 citations · Full text

Life Sciences, Molecular Genetics, Neuroscience +16

Hypofractionation vs Conventional Radiation Therapy for Newly Diagnosed Diffuse Intrinsic Pontine Glioma: A Matched-Cohort Analysis

Geert O. Janssens, Marc H.A. Jansen, Selmer J. Lauwers et al. · International Journal of Radiation Oncology*Biology*Physics · 2013 · 126 citations

Medicine, Oncology, Radiation Oncology +16