D-Index & Metrics Best Publications

Johan T. den Dunnen

Leiden University Medical Center
Netherlands

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name Citations Publications World Ranking National Ranking

Genetics D-index 84 Citations 27,527 250 World Ranking 860 National Ranking 30

Best Publications

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

Johan T. den Dunnen;Stylianos E. Antonarakis.
Human Mutation (2000)

1980 Citations

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Johan T den Dunnen;Raymond Dalgleish;Donna R Maglott;Reece K Hart.
Human Mutation (2016)

1090 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.
Human Mutation (2011)

1051 Citations

Local Dystrophin Restoration with Antisense Oligonucleotide PRO051

Judith C. van Deutekom;Anneke A. Janson;Ieke B. Ginjaar;Wendy S. Frankhuizen.
The New England Journal of Medicine (2007)

1044 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.
Nucleic Acids Research (2008)

767 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.
American Journal of Human Genetics (2008)

672 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.
Muscle & Nerve (2006)

668 Citations

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

Annemieke Aartsma-Rus;Ivo Fokkema;Jan Verschuuren;Ieke Ginjaar.
Human Mutation (2009)

622 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.
Human Mutation (2009)

588 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.
Nature Genetics (2012)

554 Citations

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Johan T. den Dunnen

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

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