Patrick J. van der Vliet

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Richard J.L.F. Lemmers, Patrick J. van der Vliet, Rinse Klooster et al. · Science · 2010 · 756 citations · Full text

Facioscapulohumeral Muscular Dystrophy, Developmental Biology, Mendelian Disorder +10

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

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

Specific Sequence Variations within the 4q35 Region Are Associated with Facioscapulohumeral Muscular Dystrophy

Richard J.L.F. Lemmers, Mariëlle Wohlgemuth, Kristiaan J. van der Gaag et al. · The American Journal of Human Genetics · 2007 · 222 citations · Full text

Biology, Facioscapulohumeral Muscular Dystrophy, Region Are Associated +9

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