Rune R. Frants

Rune R. Frants publication distribution in Biology and Biochemistry in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Biology and Biochemistry in 2026. The highlighted bar marks where Rune R. Frants sits on this spectrum.

Rune R. Frants D-index placement in Biology and Biochemistry in 2026

The chart shows the D-index (discipline H-index) distribution of Biology and Biochemistry scientists ranked by Research.com in 2026. The highlighted bar marks where Rune R. Frants sits on this spectrum.

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