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Silvère M. van der Maarel

Silvère M. van der Maarel

D-Index & Metrics

Genetics

D-Index
76
Citations
19700
World Ranking
1836
National Ranking
63

Overview

Silvère M. van der Maarel is affiliated with Leiden University Medical Center in the Netherlands. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, alongside Medicine. A significant focus of their work lies within subfields such as Molecular Biology, Genetics, Cardiology and Cardiovascular Medicine, Neurology, and Cellular and Molecular Neuroscience.

The scientist's research topics encompass a variety of areas related to muscle and genetic disorders. Key themes include:

  • Muscle Physiology and Disorders
  • RNA Research and Splicing
  • Cardiomyopathy and Myosin Studies
  • Neurogenetic and Muscular Disorders Research
  • RNA modifications and cancer
  • Myasthenia Gravis and Thymoma
  • CRISPR and Genetic Engineering

Frequent collaborators in Silvère M. van der Maarel's research network include Stephen J. Tapscott, Richard J.L.F. Lemmers, Rabi Tawil, Patrick J. van der Vliet, and Baziel G.M. van Engelen.

The scientist has published regularly in venues related to neuromuscular and molecular genetics research. Prominent publication venues include:

  • Neuromuscular Disorders
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Human Molecular Genetics
  • Scientific Reports
  • Brain

Notable recent publications are:

  • Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy, 2020, Neurology
  • p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models, 2021, Nature Genetics
  • Longitudinal measures of RNA expression and disease activity in FSHD muscle biopsies, 2020, Human Molecular Genetics
  • Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation, 2021, JCI Insight
  • Integrating gene delivery and gene-editing technologies by adenoviral vector transfer of optimized CRISPR-Cas9 components, 2020, Gene Therapy

Best Publications

  • A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

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

  • 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

  • Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

    Lauren Snider;Linda N. Geng;Richard J. L. F. Lemmers;Michael Kyba

  • DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy

    Linda N. Geng;Zizhen Yao;Lauren Snider;Abraham P. Fong

  • 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

  • Facioscapulohumeral muscular dystrophy

    Rabi Tawil;Silvère M. Van Der Maarel

  • Population-based incidence and prevalence of facioscapulohumeral dystrophy.

    J.C.W. Deenen;H. Arnts;S.M. van der Maarel;G.W. Padberg

  • Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.

    Rabi Tawil;Rabi Tawil;Silvère M van der Maarel;Silvère M van der Maarel;Stephen J Tapscott;Stephen J Tapscott

  • MuSK IgG4 autoantibodies cause myasthenia gravis by inhibiting binding between MuSK and Lrp4

    Maartje G. Huijbers;Wei Zhang;Rinse Klooster;Erik H. Niks

  • 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

  • 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

  • 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

  • ProteomeBinders: planning a European resource of affinity reagents for analysis of the human proteome

    Michael J. Taussig;Oda Stoevesandt;Carl A. K. Carl A K Borrebaeck;Andrew R. Bradbury

  • Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation

    Sara T. Winokur;Yi-Wen Chen;Peter S. Masny;Jorge H. Martin

  • 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

  • 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;Marielle Wohlgemuth

  • Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice

    Rinse Klooster;Jaap J. Plomp;Maartje G. Huijbers;Maartje G. Huijbers;Erik H. Niks

  • SOX Antibodies in Small-Cell Lung Cancer and Lambert-Eaton Myasthenic Syndrome: Frequency and Relation With Survival

    Maarten J. Titulaer;Rinse Klooster;Marko Potman;Lidia Sabater

  • RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy

    Lauren Snider;Amy Asawachaicharn;Ashlee E. Tyler;Linda N. Geng

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

    Zizhen Yao;Lauren Snider;Judit Balog;Richard J.L.F. Lemmers

Frequent Co-Authors

Rabi Tawil
Rabi Tawil University of Rochester Medical Center
Stephen J. Tapscott
Stephen J. Tapscott Fred Hutchinson Cancer Research Center
Rune R. Frants
Rune R. Frants Leiden University
George W. Padberg
George W. Padberg Radboud University
Jan J.G.M. Verschuuren
Jan J.G.M. Verschuuren Leiden University Medical Center
Gert-Jan B. van Ommen
Gert-Jan B. van Ommen Leiden University Medical Center
Peter A. C. 't Hoen
Peter A. C. 't Hoen Radboud University
Jaap J. Plomp
Jaap J. Plomp Leiden University Medical Center
Johan T. den Dunnen
Johan T. den Dunnen Leiden University Medical Center
Zizhen Yao
Zizhen Yao Allen Institute for Brain Science

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