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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   +4 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

Online Mendelian Inheritance In Man (OMIM) [PDF]

open access: bronzeHuman 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   +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

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

open access: bronzeThe 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   +4 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

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   +6 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

Online Mendelian Inheritance in Man OMIM: www.ncbi.nlm.nih.gov/entrez [PDF]

open access: bronzeJournal of Neurology, Neurosurgery & Psychiatry, 2003
This website is based on a definitive work on genetic disorders, Victor McKusick’s Mendelian Inheritance in Man. But whereas the book is now four years old, OMIM is updated daily—as of January 2003 it included 14 120 references, gaining more than 60 a month and revising a further 500. The site’s authors have reviewed the literature to provide a series
Matt Parton
openalex   +2 more sources

OMIM, Online Mendelian Inheritance in Man

open access: gold, 2004
One of the oldest Open Access resources is not a journal and predates the OA nomenclature. I'm referring to OMIM, Online Mendelian Inheritance in Man. Quoting liberally from the preface: And thus, the qualms expressed by representatives of the commercial publishers during the UK hearings on scholarly communication are easily addressed.
Peter Suber
openalex   +2 more sources

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