Standout Papers

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorde... 2002 2026 2010 2018 528
  1. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders (2002)
    Ada Hamosh Nucleic Acids Research
  2. GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene (2015)
    Nara Sobreira, François Schiettecatte et al. Human Mutation
  3. How many rare diseases are there? (2019)
    Melissa Haendel, Nicole Vasilevsky et al. Nature Reviews Drug Discovery
  4. Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes (2017)
    Joanna Amberger, Ada Hamosh Current Protocols in Bioinformatics
  5. Haploinsufficiency of t e lomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita (2005)
    Mary Armanios, Julian J.‐L. Chen et al. Proceedings of the National Academy of Sciences
  6. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders (2004)
    Ada Hamosh Nucleic Acids Research
  7. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene (1991)
    Harry C. Dietz, Reed E. Pyeritz et al. Nature
  8. Online Mendelian Inheritance In Man (OMIM) (2000)
    Ada Hamosh, Alan L. Scott et al. Human Mutation
  9. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders (2014)
    Joanna Amberger, Carol Bocchini et al. Nucleic Acids Research
  10. OMIM.org: leveraging knowledge across phenotype–gene relationships (2018)
    Joanna Amberger, Carol Bocchini et al. Nucleic Acids Research
  11. McKusick's Online Mendelian Inheritance in Man (OMIM(R)) (2008)
    Joanna Amberger, Carol Bocchini et al. Nucleic Acids Research

Immediate Impact

11 by Nobel laureates 20 from Science/Nature 79 standout
Sub-graph 1 of 17

Citing Papers

Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
The STRING database in 2023: protein–protein association networks and functional enrichment analyses for any sequenced genome of interest
2022 Standout
14 intermediate papers

Works of Ada Hamosh being referenced

OMIM.org: leveraging knowledge across phenotype–gene relationships
2018 Standout
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
2004 Standout
and 5 more

Author Peers

Author Last Decade Papers Cites
Ada Hamosh 4639 6849 1935 100 12.8k
Adam J Pawson 1350 6768 767 87 15.4k
David Valle 2698 9830 391 219 14.0k
Christopher Southan 670 7022 1049 120 15.3k
Jonathan L. Haines 3545 8287 921 401 20.9k
Erwin P. Böttinger 1802 9463 1540 161 18.0k
Doriano Fabbro 792 12286 1435 221 20.1k
Zichen Wang 1416 8838 1208 86 14.6k
Yingyao Zhou 1003 6745 1334 60 12.7k
Jacques Simard 6138 4701 1386 296 13.6k
Wen Xie 3250 6433 466 268 16.4k

All Works

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2026