Monique M. van Ostaijen-ten Dam

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

Marlinde L. van den Boogaard, Richard J.L.F. Lemmers, Judit Balog et al. · The American Journal of Human Genetics · 2016 · 260 citations · Full text

Chromatin, Developmental Biology, Mendelian Disorder +12

Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

Peter Thijssen, Yuya Ito, Giacomo Grillo et al. · Nature Communications · 2015 · 207 citations · Full text

Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2

Jessica C. de Greef, Jun Wang, Judit Balog et al. · The American Journal of Human Genetics · 2011 · 195 citations · Full text

Developmental Anomaly, Genetic Disorder, Genetics +8

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

Corry M.R. Weemaes, Maarten JD van Tol, Jun Wang et al. · European Journal of Human Genetics · 2013 · 137 citations · Full text

Heterogeneous Clinical Presentation, Icf Syndrome, Mendelian Disorder +12

Human Lymphoid Tissues Harbor a Distinct CD69+CXCR6+ NK Cell Population

Gertjan Lugthart, Janine Melsen, Carly Vervat et al. · The Journal of Immunology · 2016 · 86 citations