Similar articles for PMID: 23378291

Year	Number of Results
1993	1
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2014	6
2015	6
2016	4
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2024	0

1

PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.

Hamosh A, Sobreira N, Hoover-Fong J, Sutton VR, Boehm C, Schiettecatte F, Valle D. Hamosh A, et al. Hum Mutat. 2013 Apr;34(4):566-71. doi: 10.1002/humu.22283. Epub 2013 Mar 4. Hum Mutat. 2013. PMID: 23378291 Free PMC article.

2

New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene.

Sobreira N, Schiettecatte F, Boehm C, Valle D, Hamosh A. Sobreira N, et al. Hum Mutat. 2015 Apr;36(4):425-31. doi: 10.1002/humu.22769. Hum Mutat. 2015. PMID: 25684268 Free PMC article.

3

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.

Wohler E, Martin R, Griffith S, Rodrigues EDS, Antonescu C, Posey JE, Coban-Akdemir Z, Jhangiani SN, Doheny KF, Lupski JR, Valle D, Hamosh A, Sobreira N. Wohler E, et al. Orphanet J Rare Dis. 2021 Aug 18;16(1):365. doi: 10.1186/s13023-021-01916-z. Orphanet J Rare Dis. 2021. PMID: 34407837 Free PMC article.

4

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

5

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.

Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GC, Brown DL, Brudno M, Campbell J, FitzPatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, Van Vooren S, Wapner RJ, Wilkie AO, Wright CF, Vulto-van Silfhout AT, de Leeuw N, de Vries BB, Washingthon NL, Smith CL, Westerfield M, Schofield P, Ruef BJ, Gkoutos GV, Haendel M, Smedley D, Lewis SE, Robinson PN. Köhler S, et al. Nucleic Acids Res. 2014 Jan;42(Database issue):D966-74. doi: 10.1093/nar/gkt1026. Epub 2013 Nov 11. Nucleic Acids Res. 2014. PMID: 24217912 Free PMC article.

6

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.

7

PhenoDB: an integrated client/server database for linkage and population genetics.

Cheung KH, Nadkarni P, Silverstein S, Kidd JR, Pakstis AJ, Miller P, Kidd KK. Cheung KH, et al. Comput Biomed Res. 1996 Aug;29(4):327-37. doi: 10.1006/cbmr.1996.0024. Comput Biomed Res. 1996. PMID: 8812078 Free 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

solQTL: a tool for QTL analysis, visualization and linking to genomes at SGN database.

Tecle IY, Menda N, Buels RM, van der Knaap E, Mueller LA. Tecle IY, et al. BMC Bioinformatics. 2010 Oct 21;11:525. doi: 10.1186/1471-2105-11-525. BMC Bioinformatics. 2010. PMID: 20964836 Free PMC article.

10

SIDD: a semantically integrated database towards a global view of human disease.

Cheng L, Wang G, Li J, Zhang T, Xu P, Wang Y. Cheng L, et al. PLoS One. 2013 Oct 11;8(10):e75504. doi: 10.1371/journal.pone.0075504. eCollection 2013. PLoS One. 2013. PMID: 24146757 Free PMC article.

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