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Items: 1 to 20 of 76

1.

The Human Gene Mutation Database: 2008 update.

Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN.

Genome Med. 2009 Jan 22;1(1):13. doi: 10.1186/gm13.

2.
3.

The human gene mutation database.

Cooper DN, Ball EV, Krawczak M.

Nucleic Acids Res. 1998 Jan 1;26(1):285-7.

4.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, Hussain M, Phillips AD, Cooper DN.

Hum Genet. 2017 Jun;136(6):665-677. doi: 10.1007/s00439-017-1779-6. Epub 2017 Mar 27. Review.

5.

Human Gene Mutation Database (HGMD): 2003 update.

Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN.

Hum Mutat. 2003 Jun;21(6):577-81.

PMID:
12754702
6.

The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution.

Stenson PD, Ball EV, Mort M, Phillips AD, Shaw K, Cooper DN.

Curr Protoc Bioinformatics. 2012 Sep;Chapter 1:Unit1.13. doi: 10.1002/0471250953.bi0113s39.

PMID:
22948725
7.

The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms.

Cooper DN, Stenson PD, Chuzhanova NA.

Curr Protoc Bioinformatics. 2006 Jan;Chapter 1:Unit 1.13. doi: 10.1002/0471250953.bi0113s12.

PMID:
18428754
8.

Human gene mutation database-a biomedical information and research resource.

Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe S, Thomas N, Cooper DN.

Hum Mutat. 2000;15(1):45-51.

PMID:
10612821
9.

Molecular genetic epidemiology of human diseases: from patterns to predictions.

Knecht C, Krawczak M.

Hum Genet. 2014 Apr;133(4):425-30. doi: 10.1007/s00439-013-1396-y. Epub 2013 Nov 19. Review.

PMID:
24241280
10.

INGN 201: Ad-p53, Ad5CMV-p53, adenoviral p53, p53 gene therapy--introgen, RPR/INGN 201.

[No authors listed]

Drugs R D. 2007;8(3):176-87. Review.

PMID:
17472413
11.
12.

Mismatched double-stranded RNA: polyI:polyC12U.

[No authors listed]

Drugs R D. 2004;5(5):297-304.

PMID:
15357629
13.

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease.

Wolf A, Caliebe A, Thomas NS, Ball EV, Mort M, Stenson PD, Krawczak M, Cooper DN.

Hum Mutat. 2011 Oct;32(10):1137-43. doi: 10.1002/humu.21547. Epub 2011 Sep 8.

PMID:
21681852
14.

The novel human SHOX allelic variant database.

Niesler B, Röth R, Wilke S, Fujimura F, Fischer C, Rappold G.

Hum Mutat. 2007 Oct;28(10):933-8.

PMID:
17726696
15.

G6PDdb, an integrated database of glucose-6-phosphate dehydrogenase (G6PD) mutations.

Kwok CJ, Martin AC, Au SW, Lam VM.

Hum Mutat. 2002 Mar;19(3):217-24.

PMID:
11857737
16.

The human FOXL2 mutation database.

Beysen D, Vandesompele J, Messiaen L, De Paepe A, De Baere E.

Hum Mutat. 2004 Sep;24(3):189-93.

PMID:
15300845
17.

Genomics, mutations and the Internet: the naming and use of parts.

Scriver CR, Nowacki PM.

J Inherit Metab Dis. 1999 Jun;22(4):519-30.

PMID:
10407783
18.

Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease.

Terp BN, Cooper DN, Christensen IT, Jørgensen FS, Bross P, Gregersen N, Krawczak M.

Hum Mutat. 2002 Aug;20(2):98-109.

PMID:
12124990
19.

Cataloging coding sequence variations in human genome databases.

Won HH, Kim HJ, Lee KA, Kim JW.

PLoS One. 2008;3(10):e3575. doi: 10.1371/journal.pone.0003575. Epub 2008 Oct 30.

20.

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.

Cooper DN, Chen JM, Ball EV, Howells K, Mort M, Phillips AD, Chuzhanova N, Krawczak M, Kehrer-Sawatzki H, Stenson PD.

Hum Mutat. 2010 Jun;31(6):631-55. doi: 10.1002/humu.21260. Review.

PMID:
20506564

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