Jessica C. de Greef

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek et al. · Nature Genetics · 2012 · 641 citations · Full text

Rare Diseases, Developmental Biology, Mendelian Disorder +10

Specific Loss of Histone H3 Lysine 9 Trimethylation and HP1γ/Cohesin Binding at D4Z4 Repeats Is Associated with Facioscapulohumeral Dystrophy (FSHD)

Weihua Zeng, Jessica C. de Greef, Yen-Yun Chen et al. · PLoS Genetics · 2009 · 262 citations · Full text

Histone Modifications, Epigenetic Change, Genetics +19

Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

Melanie M. Hagleitner, Arjan C. Lankester, P Maraschio et al. · Journal of Medical Genetics · 2007 · 215 citations

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

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD

Jessica C. de Greef, Richard J.L.F. Lemmers, Baziel G.M. van Engelen et al. · Human Mutation · 2009 · 203 citations

Epigenetic Change, Genetics, Molecular Genetics +18