Search Results - "Amberger JS"

Mondo: integrating disease terminology across communities.

Authors: Vasilevsky NA Toro S Matentzoglu N et al.

Source: Genetics [Genetics] 2026 Apr 04; Vol. 232 (4).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural; Research Support, U.S. Gov't, Non-P.H.S.

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE

Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout.

Authors: Applegate CD Schiettecatte F Hamosh A et al.

Source: Current protocols [Curr Protoc] 2022 Sep; Vol. 2 (9), pp. e530.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101773894 Publication Model: Print Cited Medium: Internet ISSN: 2691-1299 (Electronic) Linking ISSN: 26911299 NLM ISO Abbreviation: Curr Protoc Subsets: MEDLINE

The genes of OMIM: A legacy of Victor McKusick.

Authors: Scott AF Amberger JS

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Nov; Vol. 185 (11), pp. 3276-3283. Date of Electronic Publication: 2021 Jul 02.

Publication Type: Biography; Historical Article; Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

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

Authors: Hamosh A Amberger JS Bocchini C et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Nov; Vol. 185 (11), pp. 3259-3265. Date of Electronic Publication: 2021 Jun 24.

Publication Type: Biography; Historical Article; Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Viewing Victor McKusick's legacy through the lens of his bibliography.

Authors: Rasmussen SA Pomputius A Amberger JS et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Nov; Vol. 185 (11), pp. 3212-3223. Date of Electronic Publication: 2021 Jun 23.

Publication Type: Biography; Historical Article; Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

OMIM.org: leveraging knowledge across phenotype-gene relationships.

Authors: Amberger JS Bocchini CA Scott AF et al.

Source: Nucleic acids research [Nucleic Acids Res] 2019 Jan 08; Vol. 47 (D1), pp. D1038-D1043.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

Response to Biesecker et al.

Authors: Hamosh A Amberger JS Bocchini CA et al.

Source: American journal of human genetics [Am J Hum Genet] 2021 Sep 02; Vol. 108 (9), pp. 1807-1808.

Publication Type: Letter; Comment

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

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

Authors: Amberger JS Bocchini CA Schiettecatte F et al.

Source: Nucleic acids research [Nucleic Acids Res] 2015 Jan; Vol. 43 (Database issue), pp. D789-98. Date of Electronic Publication: 2014 Nov 26.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

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

Authors: Hamosh A Scott AF Amberger JS et al.

Source: Nucleic acids research [Nucleic Acids Res] 2005 Jan 01; Vol. 33 (Database issue), pp. D514-7.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

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

Authors: Amberger JS Hamosh A

Source: Current protocols in bioinformatics [Curr Protoc Bioinformatics] 2017 Jun 27; Vol. 58, pp. 1.2.1-1.2.12. Date of Electronic Publication: 2017 Jun 27.

Publication Type: Journal Article; Review

Journal Info: Country of Publication: United States NLM ID: 101157830 Publication Model: Electronic Cited Medium: Internet ISSN: 1934-340X (Electronic) Linking ISSN: 19343396 NLM ISO Abbreviation: Curr Protoc Bioinformatics Subsets: MEDLINE

Progress in medical genetics: map-based gene discovery and the molecular pathology of skeletal dysplasias.

Authors: McKusick VA Amberger JS Francomano CA

Source: American journal of medical genetics [Am J Med Genet] 1996 May 03; Vol. 63 (1), pp. 98-105.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE

Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Authors: Rosenfeld PJ McKusick VA Amberger JS et al.

Source: Journal of medical genetics [J Med Genet] 1994 Dec; Vol. 31 (12), pp. 903-15.

Publication Type: Journal Article; Review

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Print ISSN: 0022-2593 (Print) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

A gene map of congenital malformations.

Authors: Wilkie AO Amberger JS McKusick VA

Source: Journal of medical genetics [J Med Genet] 1994 Jul; Vol. 31 (7), pp. 507-17.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Print ISSN: 0022-2593 (Print) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

The morbid anatomy of the human genome: chromosomal location of mutations causing disease (update 1 December 1993).

Authors: McKusick VA Amberger JS

Source: Journal of medical genetics [J Med Genet] 1994 Apr; Vol. 31 (4), pp. 265-79.

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S.; Review

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Print ISSN: 0022-2593 (Print) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

The morbid anatomy of the human genome: chromosomal location of mutations causing disease.

Authors: McKusick VA Amberger JS

Source: Journal of medical genetics [J Med Genet] 1993 Jan; Vol. 30 (1), pp. 1-26.

Publication Type: Journal Article; Review

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Print ISSN: 0022-2593 (Print) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE