Judit Balog

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

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

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle

Zizhen Yao, Lauren Snider, Judit Balog et al. · Human Molecular Genetics · 2014 · 216 citations · Full text

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

Sabrina Sacconi, Richard J.L.F. Lemmers, Judit Balog et al. · The American Journal of Human Genetics · 2013 · 185 citations · Full text

Fshd2 Gene Smchd1, Mendelian Disorder, Disease Mechanism +11