Johan T. den Dunnen

Overview

Best Publications

• Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion.

  Johan T. den Dunnen;Stylianos E. Antonarakis

  2013
  Citations

• HGVS Recommendations for the Description of Sequence Variants: 2016 Update

  Johan T den Dunnen;Raymond Dalgleish;Donna R Maglott;Reece K Hart

  1434
  Citations

• LOVD v.2.0: the next generation in gene variant databases.

  Ivo F A C Fokkema;Peter E M Taschner;Gerard C P Schaafsma;J Celli

  1230
  Citations

• Local Dystrophin Restoration with Antisense Oligonucleotide PRO051

  Judith C. van Deutekom;Anneke A. Janson;Ieke B. Ginjaar;Wendy S. Frankhuizen

  1057
  Citations

• Nomenclature for the description of human sequence variations

  J. T. den Dunnen;Stylianos Antonarakis

  1049
  Citations

• Next generation sequencing technology: Advances and applications.

  H.P.J. Buermans;J.T. den Dunnen

  844
  Citations

• Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms

  Peter A. C. 't Hoen;Yavuz Ariyurek;Helene H. Thygesen;Erno Vreugdenhil

  797
  Citations

• Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

  Annemieke Aartsma-Rus;Judith C. T. Van Deutekom;Ivo F. Fokkema;Gert-Jan B. Van Ommen

  779
  Citations

• Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

  Carl E.G. Bruder;Arkadiusz Piotrowski;Antoinet A.C.J. Gijsbers;Robin Andersson

  695
  Citations

• Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations.

  Annemieke Aartsma-Rus;Ivo Fokkema;Jan Verschuuren;Ieke Ginjaar

  691
  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

• Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

  J. T. Den Dunnen;P. M. Grootscholten;E. Bakker;L. A. J. Blonden

  658
  Citations

• High‐Resolution Melting Analysis (HRMA)—More than just sequence variant screening

  Rolf H.A.M. Vossen;Emmelien Aten;Anja Roos;Johan T. den Dunnen

  647
  Citations

• Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

  Martin Wildeman;Ernest van Ophuizen;Johan T. den Dunnen;Peter E.M. Taschner

  548
  Citations

• Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

  Jeroen H. Roelfsema;Stefan J. White;Yavuz Ariyürek;Deborah Bartholdi

  542
  Citations

• The Matchmaker Exchange: a platform for rare disease gene discovery

  Anthony A. Philippakis;Anthony A. Philippakis;Anthony A. Philippakis;Danielle R. Azzariti;Sergi Beltran;Anthony J. Brookes

  510
  Citations

• Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

  Bryony A Thompson;Bryony A Thompson;Amanda B Spurdle;John-Paul Plazzer;Marc S Greenblatt

  493
  Citations

• Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

  Judith C.T. van Deutekom;Mattie Bremmer-Bout;Anneke A.M. Janson;Ieke B. Ginjaar

  463
  Citations

• WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4 ; 14) multiple myeloma

  I. Stec;T. J. Wright;G.-J. B. Van Ommen;P. A. J. De Boer

  431
  Citations

• Rapid detection of BRCA1 mutations by the protein truncation test

  Fbl Hogervorst;RS Cornelis;M Bout;M van Vliet

  414
  Citations