Johan T. den Dunnen

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis · Human Mutation · 2000 · 1.8K citations · Full text

Complex Mutations, Genetics, Genetic Epidemiology +20

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Johan T. den Dunnen, Raymond Dalgleish, Donna Maglott et al. · Human Mutation · 2016 · 1.6K citations · Full text

Genetics, Genetic Epidemiology, Pathology +24

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

Ivo F.A.C. Fokkema, Peter E.M. Taschner, Gerard C. P. Schaafsma et al. · Human Mutation · 2011 · 1K citations · Full text

Genetics, Genetic Epidemiology, Genomics +17

Local Dystrophin Restoration with Antisense Oligonucleotide PRO051

Judith C. van Deutekom, Anneke A. M. Janson, Ieke B. Ginjaar et al. · New England Journal of Medicine · 2007 · 760 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 Ariyürek, Helene Thygesen et al. · Nucleic Acids Research · 2008 · 754 citations · Full text