Mendelian Inheritance in Man and Its Online Version, OMIM

Victor A. McKusick

doi:10.1086/514346

journal article Open Access Apr 01, 2007

Mendelian Inheritance in Man and Its Online Version, OMIM

Victor A. McKusick

The American Journal of Human Genetics Vol. 80 No. 4 pp. 588-604 · Elsevier BV

View at Publisher Save 10.1086/514346

Topics

No keywords indexed for this article. Browse by subject →

References

82

[1]

McKusick VA. Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes (1966, 1st ed; 1969, 2nd ed; 1971, 3rd ed; 1975, 4th ed; 1978, 5th ed; 1983, 6th ed; 1986, 7th ed; 1988, 8th ed; 1990, 9th ed; 1992, 10th ed). Johns Hopkins University Press, Baltimore.

[2]

McKusick VA. Mendelian inheritance in man: a catalog of human genes and genetic disorders (1994, 11th ed; 1998, 12th ed). Johns Hopkins University Press, Baltimore.

[3]

McKusick "A 60-year tale of spots, maps, and genes" Annu Rev Genomics Hum Genet (2006) 10.1146/annurev.genom.7.080505.115749

[4]

McKusick VA and contributors (1961)

[5]

McKusick VA and contributors (1965)

[6]

McKusick "On the X chromosome of man" Quart Rev Biol (1962) 10.1086/403631

[7]

McKusick (1964)

[8]

McKusick "Genetic studies of the Amish: background and potentialities" Bull Johns Hopkins Hosp (1964)

[9]

McKusick "The distribution of certain genes in the Old Order Amish" Cold Spring Harb Symp Quant Biol (1964) 10.1101/sqb.1964.029.01.015

[10]

Antonarakis "Recommendations for a nomenclature system for human gene mutations" Hum Mutat (1998) 10.1002/(sici)1098-1004(1998)11:1<1::aid-humu1>3.0.co;2-o

[11]

Den Dunnen "Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion" Hum Mutat (2000) 10.1002/(sici)1098-1004(200001)15:1<7::aid-humu4>3.0.co;2-n

[12]

Den Dunnen "Nomenclature for the description of human sequence variations" Hum Genet (2001) 10.1007/s004390100505

[13]

Migeon "Human-mouse somatic cell hybrids with single human chromosome (group E): link with thymidine kinase activity" Science (1968) 10.1126/science.162.3857.1005

[14]

Miller "Human thymidine kinase gene locus: assignment to chromosome 17 in a hybrid of man and mouse cells" Science (1971) 10.1126/science.173.3993.244

[15]

Hamosh "Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders" Nucleic Acids Res (2005) 10.1093/nar/gki033

[16]

Harman D, Benson D, Fitzpatrick L, Huntzinger R, Goldstein C (1988) IRx: an information retrieval system for experimentation and user applications. Proceedings of RIAO 88 Conference “User-Oriented Content-Base Text and Image Handling,” Cambridge, MA, March 21–24 10.1145/54347.54348

[17]

Faber (1930)

[18]

Birth Defects Orig Art Ser (1969)

[19]

McKusick "Lumpers and splitters, or the nosology of genetic disease" Birth Defects Orig Art Ser (1969)

[20]

McKusick "Lumpers and splitters, or the nosology of genetic disease" Perspect Biol Med (1969) 10.1353/pbm.1969.0039

[21]

McKusick (1956)

[22]

Feingold "The use of inappropriate, demeaning, and pejorative terminology to describe syndromes" Am J Med Genet A (2006) 10.1002/ajmg.a.31108

[23]

Cohen "Problems in the naming of genes" Am J Med Genet A (2006) 10.1002/ajmg.a.31264

[24]

Ludman "The use of inappropriate, demeaning, and pejorative terminology in gene nomenclature: a comment on Feingold" Am J Med Genet A (2006) 10.1002/ajmg.a.31263

[25]

Wain "Guidelines for human gene nomenclature" Genomics (2002) 10.1006/geno.2002.6748

[26]

Goodfellow "A celebration and a farewell" Nat Genet (1997) 10.1038/ng0797-209

[27]

Donahue "Probable assignment of the Duffy blood group locus to chromosome 1 in man" Proc Nat Acad Sci USA (1968) 10.1073/pnas.61.3.949

[28]

Antonarakis "OMIM passes the 1,000-disease-gene mark" Nat Genet (2000) 10.1038/75497

[29]

Peltonen "Dissecting human disease in the postgenomic era" Science (2001) 10.1126/science.291.5507.1224

[30]

Slaney "Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome" Am J Hum Genet (1996)

[31]

Garrod "The lessons of rare maladies" Lancet (1928) 10.1016/s0140-6736(00)99941-0

[32]

Gorlin "Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring" J Cell Biol (1990) 10.1083/jcb.111.3.1089

[33]

Gorlin "Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28" Genomics (1993) 10.1006/geno.1993.1354

[34]

Garrod "The incidence of alkaptonuria: a study in chemical individuality" Lancet (1902) 10.1016/s0140-6736(01)41972-6

[35]

Garrod (1931)

[36]

Scriver (1989)

[37]

Childs (1999)

[38]

Dipple "Glycerol kinase deficiency: evidence for complexity in a single gene disorder" Hum Genet (2001) 10.1007/s004390100545

[39]

National Research Council (1992)

[40]

McKusick "Lewis A Conner memorial lecture: a genetical view of cardiovascular disease" Circulation (1964) 10.1161/01.cir.30.3.326

[41]

Feinberg "The history of cancer epigenetics" Nat Rev Cancer (2004) 10.1038/nrc1279

[42]

Egger "Epigenetics in human disease and prospects for epigenetic therapy" Nature (2004) 10.1038/nature02625

[43]

Jones "The fundamental role of epigenetic events in cancer" Nat Rev Cancer (2002) 10.1038/nrn857

[44]

Ferguson-Smith "Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34" Hum Genet (1976) 10.1007/bf00284432

[45]

Schmickel "Contiguous gene syndromes: a component of recognizable syndromes" J Pediatr (1986) 10.1016/s0022-3476(86)80377-8

[46]

Kimberling "Localization of spherocytosis to chromosome 8 or 12 and report of a family with spherocytosis and a reciprocal translocation" Am J Hum Genet (1975)

[47]

Kimberling "Linkage and gene localization of hereditary spherocytosis (HS)" Blood (1978) 10.1182/blood.v52.5.859.859

[48]

Bass "Further evidence for location of the spherocytosis gene on chromosome 8" Ann Intern Med (1983) 10.7326/0003-4819-99-2-192

[49]

Mitelman (1998)

[50]

Mitelman "A breakpoint map of recurrent chromosomal rearrangements in human neoplasia" Nat Genet Spec (1997) 10.1038/ng0497supp-417

Showing 50 of 82 references

Cited By

632

From sweetener to risk factor: Network toxicology, molecular docking and molecular dynamics reveal the mechanism of aspartame in promoting coronary heart disease

Ming Xia, XiaoLi Liu · 2026

Chemico-Biological Interactions

A genomic mutational constraint map using variation in 76,156 human genomes

Siwei Chen, Laurent C. Francioli · 2023

Nature

gEAR: Gene Expression Analysis Resource portal for community-driven, multi-omic data exploration

Joshua Orvis, Brian Gottfried · 2021

Nature Methods

Molecular Genetics Diversity of Primary Hemophagocytic Lymphohistiocytosis among Polish Pediatric Patients

Katarzyna Bąbol-Pokora, Magdalena Wołowiec · 2021

Archivum Immunologiae et Therapiae...

Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases

Mengge Zhao, James M Havrilla · 2020

NAR Genomics and Bioinformatics

Mutation in the MICOS subunit gene APOO (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

Cristiane Benincá, Vanessa Zanette · 2020

Journal of Medical Genetics

A human cell atlas of fetal gene expression

Junyue Cao, Diana R. O’Day · 2020

Science

Modified Jian-pi-yang-zheng decoction inhibits gastric cancer progression via the macrophage immune checkpoint PI3Kγ

Mengyun Yuan, Xi Zou · 2020

Biomedicine & Pharmacotherapy

OrthoList 2: A New Comparative Genomic Analysis of Human and Caenorhabditis elegans Genes

Woojin Kim, Ryan S Underwood · 2018

Genetics

The Bermuda Triangle: The Pragmatics, Policies, and Principles for Data Sharing in the History of the Human Genome Project

Kathryn Maxson Jones, Rachel A. Ankeny · 2018

Journal of the History of Biology

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci

Diana Chang, Mike A Nalls · 2017

Nature Genetics

Identification of a large set of rare complete human knockouts

Patrick Sulem, Hannes Helgason · 2015

Nature Genetics

Lysosomal calcium signalling regulates autophagy through calcineurin and TFEB

Diego L. Medina, Simone Di Paola · 2015

Nature Cell Biology

Molecular architecture of the chick vestibular hair bundle

Jung-Bum Shin, Jocelyn F Krey · 2013

Nature Neuroscience

The Next-Generation Sequencing Revolution and Its Impact on Genomics

Daniel C. Koboldt, Karyn Meltz Steinberg · 2013

Cell

Genetic architectures of psychiatric disorders: the emerging picture and its implications

Patrick F. Sullivan, Mark J. Daly · 2012

Nature Reviews Genetics

Gene-Based Tests of Association

Hailiang Huang, Pritam Chanda · 2011

PLOS Genetics

Integrated genomic analyses of ovarian carcinoma

· 2011

Nature

The Human Gene Mutation Database: 2008 update

Peter D Stenson, Matthew Mort · 2009

Genome Medicine

The Diploid Genome Sequence of an Individual Human

Samuel Levy, Granger Sutton · 2007

PLOS Biology

Metrics

632

Citations

82

References

Details

Published: Apr 01, 2007
Vol/Issue: 80(4)
Pages: 588-604
License: View

Authors

V

Victor A. McKusick

Johns Hopkins University School of Medicine, Johns Hopkins Hospital, 600 North Wolfe Street, Blalock 1007, Baltimore, MD 21287–4922, USA.

Cite This Article

Victor A. McKusick (2007). Mendelian Inheritance in Man and Its Online Version, OMIM. The American Journal of Human Genetics, 80(4), 588-604. https://doi.org/10.1086/514346

Mendelian Inheritance in Man and Its Online Version, OMIM

You May Also Like