Johan T. den Dunnen
Leiden University Medical Center(NL)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, RNA Research and Splicing, CRISPR and Genetic Engineering
Most-Cited Works
- → Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion(2000)1,764 cited
- → HGVS Recommendations for the Description of Sequence Variants: 2016 Update(2016)1,659 cited
- → LOVD v.2.0: the next generation in gene variant databases(2011)1,058 cited
- → Local Dystrophin Restoration with Antisense Oligonucleotide PRO051(2007)761 cited
- → Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms(2008)754 cited
- → Next generation sequencing technology: Advances and applications(2014)750 cited
- → Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame rule