Richard J.L.F. Lemmers

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

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

Lauren Snider, Linda N. Geng, Richard J.L.F. Lemmers et al. · PLoS Genetics · 2010 · 479 citations · Full text

Skeletal Muscle Cells, Transcriptional Regulation, Mendelian Disorder +12

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter

Peter A. J. Leegwater, Gerre Vermeulen, Andrea A.M. Könst et al. · Nature Genetics · 2001 · 412 citations

Translational Biology, Disease Mechanism, White Matter +6

Facioscapulohumeral muscular dystrophy is uniquely associated with one of the two variants of the 4q subtelomere

Richard J.L.F. Lemmers, Peggy de Kievit, Lodewijk A. Sandkuijl et al. · Nature Genetics · 2002 · 281 citations

Biology, Rare Diseases, Facioscapulohumeral Muscular Dystrophy +10