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American Journal of Medical Genetics Part A
Article . 2021 . Peer-reviewed
License: CC BY NC ND
Data sources: Crossref
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American Journal of Medical Genetics Part A
Article
License: CC BY NC ND
Data sources: UnpayWall
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Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus

Authors: Ada Hamosh; Joanna S. Amberger; Carol Bocchini; Alan F. Scott; Sonja A. Rasmussen;

Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus

Abstract

AbstractVictor McKusick's many contributions to medicine are legendary, but his magnum opus is Mendelian Inheritance in Man (MIM), his catalog of Mendelian phenotypes and their associated genes. The catalog, originally published in 1966 in book form, became available on the internet as Online Mendelian Inheritance in Man (OMIM®) in 1987. The first of 12 editions of MIM included 1486 entries; this number has increased to over 25,000 entries in OMIM as of April 2021, which demonstrates the growth of knowledge about Mendelian phenotypes and their genes through the years. OMIM now has over 20,000 unique users a day, including users from every country in the world. Many of the early decisions made by McKusick, such as to maintain MIM data in a computer‐readable format, to separate phenotype entries from those for genes, and to give phenotypes and genes MIM numbers, have proved essential to the long‐term utility and flexibility of his catalog. Based on his extensive knowledge of genetics and vision of its future in the field of medicine, he developed a framework for the capture and summary of information from the published literature on phenotypes and their associated genes; this catalog continues to serve as an indispensable resource to the genetics community.

Keywords

Genetics, Medical, Databases, Genetic, Chromosome Mapping, Humans, Original Articles, History, 20th Century, History, 21st Century

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
144
Top 1%
Top 10%
Top 1%
Green
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