Glen R. Monroe

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

Glen R. Monroe, G. W. J. Frederix, Sanne M. C. Savelberg et al. · Genetics in Medicine · 2016 · 180 citations · Full text

Intellectual Impairment, Genetic Testing, Mendelian Disorder +11

Loss of Syntaxin 3 Causes Variant Microvillus Inclusion Disease

Caroline L. Wiegerinck, Andreas Janecke, Kerstin Schneeberger et al. · Gastroenterology · 2014 · 172 citations · Full text

Immunodeficiencies, Pathogenesis, Immunology +5

De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Karin Weiss, Lior Cohen, Michael Bruccoleri et al. · The American Journal of Human Genetics · 2016 · 154 citations · Full text

Chromatin, Chromatin Structure, Distinctive Dysmorphisms +11

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

Alma Kuechler, Marjolein H. Willemsen, Beate Albrecht et al. · Human Genetics · 2014 · 124 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

Noa Lipstein, Nanda M. Verhoeven‐Duif, Francesco Michelassi et al. · Journal of Clinical Investigation · 2017 · 122 citations · Full text

Dyskinetic Movement Disorder, Synaptic Transmission, Neurotransmitter +17