Amberger JS - Search Results

1

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

Amberger JS, Bocchini CA, Scott AF, Hamosh A. Amberger JS, et al. Nucleic Acids Res. 2019 Jan 8;47(D1):D1038-D1043. doi: 10.1093/nar/gky1151. Nucleic Acids Res. 2019. PMID: 30445645 Free PMC article.

2

Online Mendelian Inheritance in Man (OMIM).

Hamosh A, Scott AF, Amberger J, Valle D, McKusick VA. Hamosh A, et al. Hum Mutat. 2000;15(1):57-61. doi: 10.1002/(SICI)1098-1004(200001)15:1<57::AID-HUMU12>3.0.CO;2-G. Hum Mutat. 2000. PMID: 10612823

3

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

Hamosh A, Scott AF, Amberger J, Bocchini C, Valle D, McKusick VA. Hamosh A, et al. Nucleic Acids Res. 2002 Jan 1;30(1):52-5. doi: 10.1093/nar/30.1.52. Nucleic Acids Res. 2002. PMID: 11752252 Free PMC article.

4

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

Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Hamosh A, et al. Among authors: amberger js. Nucleic Acids Res. 2005 Jan 1;33(Database issue):D514-7. doi: 10.1093/nar/gki033. Nucleic Acids Res. 2005. PMID: 15608251 Free PMC article.

5

McKusick's Online Mendelian Inheritance in Man (OMIM).

Amberger J, Bocchini CA, Scott AF, Hamosh A. Amberger J, et al. Nucleic Acids Res. 2009 Jan;37(Database issue):D793-6. doi: 10.1093/nar/gkn665. Epub 2008 Oct 8. Nucleic Acids Res. 2009. PMID: 18842627 Free PMC article.

6

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

Amberger J, Bocchini C, Hamosh A. Amberger J, et al. Hum Mutat. 2011 May;32(5):564-7. doi: 10.1002/humu.21466. Epub 2011 Apr 5. Hum Mutat. 2011. PMID: 21472891

7

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.

Smedley D, Köhler S, Czeschik JC, Amberger J, Bocchini C, Hamosh A, Veldboer J, Zemojtel T, Robinson PN. Smedley D, et al. Bioinformatics. 2014 Nov 15;30(22):3215-22. doi: 10.1093/bioinformatics/btu508. Epub 2014 Jul 30. Bioinformatics. 2014. PMID: 25078397 Free PMC article.

8

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

Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A. Amberger JS, et al. Nucleic Acids Res. 2015 Jan;43(Database issue):D789-98. doi: 10.1093/nar/gku1205. Epub 2014 Nov 26. Nucleic Acids Res. 2015. PMID: 25428349 Free PMC article.

9

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

Amberger JS, Hamosh A. Amberger JS, et al. Curr Protoc Bioinformatics. 2017 Jun 27;58:1.2.1-1.2.12. doi: 10.1002/cpbi.27. Curr Protoc Bioinformatics. 2017. PMID: 28654725 Free PMC article. Review.

10

What's in a name? Issues to consider when naming Mendelian disorders.

Rasmussen SA, Hamosh A; OMIM curators. Rasmussen SA, et al. Genet Med. 2020 Oct;22(10):1573-1575. doi: 10.1038/s41436-020-0851-0. Epub 2020 Jun 18. Genet Med. 2020. PMID: 32555417 Free PMC article. No abstract available.

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