Rune R. Frants

Best Publications

• A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

  Richard J. L. F. Lemmers;Patrick J. van der Vliet;Rinse Klooster;Sabrina Sacconi

  773
  Citations

• 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;Judit Balog

  670
  Citations

• 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;Sakkubai Naidu

  518
  Citations

• Genome-wide meta-analysis identifies new susceptibility loci for migraine

  Verneri Anttila;Bendik S. Winsvold;Bendik S. Winsvold;Padhraig Gormley;Tobias Kurth

  484
  Citations

• Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

  Petra G M van Overveld;Richard J F L Lemmers;Lodewijk A Sandkuijl;Leo Enthoven

  439
  Citations

• Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element.

  J. Gabriels;M.C. Beckers;H. Ding;A.S. de Vriese

  391
  Citations

• 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;Richard Chien

  317
  Citations

• 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 Sandkuijl;George W Padberg

  315
  Citations

• The expression of type III hyperlipoproteinemia: involvement of lipolysis genes

  Peter Henneman;Femke Van Der Sman-De Beer;Payman Hanifi Moghaddam;Petra Huijts

  312
  Citations

• Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts

  Peter A.J. Leegwater;Bao Qiang Yuan;Jeffrey van der Steen;Joyce Mulders

  312
  Citations

• Genetics of headaches.

  Arn M.J.M. Van Den Maagdenberg;Gisela M. Terwindt;Joost Haan;Rune R. Frants

  262
  Citations

• Migraine and MTHFR C677T genotype in a population-based sample.

  Ann I Scher;Ann I Scher;Gisela M Terwindt;W M Monique Verschuren;Mark C Kruit

  256
  Citations

• 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;Patrick J. van der Vliet

  252
  Citations

• Melanocortin-1 Receptor Variant R151C Modifies Melanoma Risk in Dutch Families with Melanoma

  Pieter A. van der Velden;Lodewijk A. Sandkuijl;Wilma Bergman;Stan Pavel

  231
  Citations

• 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;Sabrina Sacconi

  215
  Citations

• Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

  Jessica C. de Greef;Jun Wang;Judit Balog;Johan T. den Dunnen

  210
  Citations

• De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.

  Silvère M. van der Maarel;Giancarlo Deidda;Richard J.L.F. Lemmers;Petra G.M. van Overveld

  192
  Citations

• Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: Results of genome-wide association analyses including 4659 European individuals

  Iris M. Heid;Peter Henneman;Andrew Hicks;Stefan Coassin

  184
  Citations

• Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy

  Richard J. F.L. Lemmers;Mariëlle Wohlgemuth;Rune R. Frants;George W. Padberg

  164
  Citations

• Facioscapulohumeral muscular dystrophy

  Silvère M. van der Maarel;Rune R. Frants;George W. Padberg

  159
  Citations