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

open access: hybridAmerican Journal of Medical Genetics Part A, 2021
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.
Ada Hamosh   +4 more
semanticscholar   +5 more sources

Online Mendelian Inheritance In Man (OMIM) [PDF]

open access: goldHuman Mutation, 2000
Online Mendelian Inheritance In Man (OMIM) is a public database of bibliographic information about human genes and genetic disorders. Begun by Dr. Victor McKusick as the authoritative reference Mendelian Inheritance in Man, it is now distributed electronically by the National Center for Biotechnology Information (NCBI). Material in OMIM is derived from
Ada Hamosh   +4 more
semanticscholar   +5 more sources

McKusick's Online Mendelian Inheritance in Man (OMIM(R)) [PDF]

open access: goldNucleic Acids Research, 2008
McKusick's Online Mendelian Inheritance in Man (OMIM; http://www.ncbi.nlm.nih.gov/omim), a knowledgebase of human genes and phenotypes, was originally published as a book, Mendelian Inheritance in Man, in 1966. The content of OMIM is derived exclusively from the published biomedical literature and is updated daily.
Joanna Amberger   +3 more
semanticscholar   +4 more sources

Mendelian Inheritance in Man and Its Online Version, OMIM [PDF]

open access: greenThe American Journal of Human Genetics, 2007
Last year marked the 40th anniversary of the publication of the first print edition of Mendelian Inheritance in Man (MIM).1 This seems an appropriate juncture at which to review its origins, evolution, and present status, including and particularly those of its online version, OMIM (Online Mendelian Inheritance in Man).
Victor A. McKusick
semanticscholar   +5 more sources

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders [PDF]

open access: bronzeNucleic Acids Research, 2002
Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support research and education in human genomics and the practice of clinical genetics. Started by Dr Victor A.
Ada Hamosh
semanticscholar   +7 more sources

The status of online Mendelian inheritance in man (OMIM) medio 1994 [PDF]

open access: greenNucleic Acids Research, 1994
During the last year many changes have been introduced into the system of maintaining OMIM. There are three major components of the reorganization. First, a distributed editorial system was introduced which provides a three-tiered editorial board with senior editors, science writers and subject editors.
P. Pearson   +5 more
semanticscholar   +8 more sources

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders [PDF]

open access: goldNucleic Acids Research, 2014
Online Mendelian Inheritance in Man, OMIM(®), is a comprehensive, authoritative and timely research resource of curated descriptions of human genes and phenotypes and the relationships between them. The new official website for OMIM, OMIM.org (http://omim.org), was launched in January 2011.
Joanna Amberger   +4 more
semanticscholar   +4 more sources

Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes [PDF]

open access: greenCurrent Protocols in Bioinformatics, 2017
AbstractOnline Mendelian Inheritance in Man (OMIM) at OMIM.org is the primary repository of comprehensive, curated information on genes and genetic phenotypes and the relationships between them. This unit provides an overview of the types of information in OMIM and optimal strategies for searching and retrieving the information.
Joanna Amberger, Ada Hamosh
semanticscholar   +5 more sources

Phenotypic and Genotypic Analyses of Genetic Skin Disease through the Online Mendelian Inheritance in Man (OMIM) Database [PDF]

open access: bronzeJournal of Investigative Dermatology, 2009
Despite unprecedented gains in genomic technologies and genotype resolution, there remain tremendous challenges in our ability to capture disease "phenomes." We propose a previously unreported method for deconvolving human disease into elemental features, thereby creating a third space that interacts with both the disease and genotypic spaces.
Jamison D. Feramisco   +4 more
semanticscholar   +4 more sources

CGMIM: Automated text-mining of Online Mendelian Inheritance in Man (OMIM) to identify genetically-associated cancers and candidate genes [PDF]

open access: goldBMC Bioinformatics, 2005
Abstract Background Online Mendelian Inheritance in Man (OMIM) is a computerized database of information about genes and heritable traits in human populations, based on information reported in the scientific literature.
Chris Bajdik   +4 more
semanticscholar   +7 more sources

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