Sonja de Munnik

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

Tom S. Koemans, Tjitske Kleefstra, Melissa C. Chubak et al. · PLoS Genetics · 2017 · 159 citations · Full text

Histone Modifications, Epigenetic Change, Genetics +18

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

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Charlotte W. Ockeloen, Marjolein H. Willemsen, Sonja de Munnik et al. · European Journal of Human Genetics · 2014 · 99 citations · Full text

Mendelian Disorder, Autoimmune Disease, Disease Mechanism +9

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Lisanne van Prooyen Schuurman, Erik A. Sistermans, Diane Van Opstal et al. · The American Journal of Human Genetics · 2022 · 94 citations · Full text

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Sarah M. Nikkel, Andrew Dauber, Sonja de Munnik et al. · Orphanet Journal of Rare Diseases · 2013 · 83 citations · Full text