Maaike Vreeburg

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 · 324 citations · Full text

Unexplained Intellectual Disability, Gender-specific Effects, Mendelian Disorder +10

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Aimée Paulussen, Alexander P.A. Stegmann, Marinus J. Blok et al. · Human Mutation · 2010 · 146 citations · Full text

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Margot R.F. Reijnders, Vasilios Zachariadis, Brooke Latour et al. · The American Journal of Human Genetics · 2016 · 106 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +11

A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

Rutger Jan Nievelstein, Eva J. J. Verver, Vedat Topsakal et al. · American Journal of Medical Genetics Part A · 2015 · 94 citations · Full text

Short Stature, Genetics, Related Phenotype +22

Identification and functional characterization of<i>de novo FOXP1</i>variants provides novel insights into the etiology of neurodevelopmental disorder

Elliot Sollis, Sarah A. Graham, Arianna Vino et al. · Human Molecular Genetics · 2015 · 91 citations · Full text

Neurogenomics, Brain Development, Genetics +20