Standout Papers

Human Gene Mutation Database (HGMD<sup>®</sup>): 2003 update 1992 2026 2003 2014 1.3k
  1. Human Gene Mutation Database (HGMD®): 2003 update (2003)
    Peter D. Stenson, Edward V. Ball et al. Human Mutation
  2. Galectins. Structure and function of a large family of animal lectins. (1994)
    S H Barondes, D.N. Cooper et al. Journal of Biological Chemistry
  3. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences (1992)
    Michael Krawczak, Jochen Reiss et al. Human Genetics
  4. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine (2013)
    Peter D. Stenson, Matthew Mort et al. Human Genetics
  5. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies (2017)
    Peter D. Stenson, Matthew Mort et al. Human Genetics
  6. Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models (2012)
    Hashem A. Shihab, Julian Gough et al. Human Mutation
  7. The CpG dinucleotide and human genetic disease (1988)
    D.N. Cooper, Hagop Youssoufian Human Genetics
  8. Classification of human epithelia and their neoplasms using monoclonal antibodies to keratins: strategies, applications, and limitations. (1985)
    D.N. Cooper, Alexander Schermer et al. PubMed
  9. The Human Gene Mutation Database: 2008 update (2009)
    Peter D. Stenson, Matthew Mort et al. Genome Medicine
  10. Automated inference of molecular mechanisms of disease from amino acid substitutions (2009)
    Biao Li, Vidhya G. Krishnan et al. Bioinformatics
  11. M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity (2016)
    Karthik A. Jagadeesh, Aaron M. Wenger et al. Nature Genetics
  12. An integrative approach to predicting the functional effects of non-coding and coding sequence variation (2015)
    Hashem A. Shihab, Mark F. Rogers et al. Bioinformatics
  13. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease (2013)
    D.N. Cooper, Michael Krawczak et al. Human Genetics
  14. Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 (2020)
    Vikas Pejaver, Jorge Urresti et al. Nature Communications
  15. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting (2020)
    Peter D. Stenson, Matthew Mort et al. Human Genetics
  16. God must love galectins; He made so many of them (1999)
    D.N. Cooper, S H Barondes Glycobiology
  17. MutationTaster2021 (2021)
    Robin Steinhaus, Sebastian Proft et al. Nucleic Acids Research
  18. NextDenovo: an efficient error correction and accurate assembly tool for noisy long reads (2024)
    Jiang Hu, Zhuo Wang et al. Genome biology

Immediate Impact

8 by Nobel laureates 43 from Science/Nature 72 standout
Sub-graph 1 of 21

Citing Papers

Protein codes promote selective subcellular compartmentalization
2025 StandoutScience
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
5 intermediate papers

Works of D.N. Cooper being referenced

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
2020 Standout
The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity
2015
and 3 more

Author Peers

Author Last Decade Papers Cites
D.N. Cooper 19458 10199 2981 3678 560 33.9k
Stylianos E. Antonarakis 22035 13150 5326 2795 593 40.5k
Uta Francke 23981 14319 1707 4745 500 41.4k
Peter Lichter 19212 7104 2297 5215 488 36.0k
Frank Grosveld 27302 7075 2378 4371 388 38.1k
David E. Housman 32008 9151 2521 3000 330 47.3k
Arthur L. Beaudet 17519 12287 1076 4168 332 29.8k
Marie‐Geneviève Mattéi 15810 6912 1665 5878 500 28.8k
Stuart A. Aaronson 27751 9308 1638 6399 430 45.4k
Bengt Westermark 16343 2705 2100 3466 337 28.8k
Herman Van den Berghe 8151 5266 5179 1734 753 23.1k

All Works

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