Cooper DN - Search Results

1

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics.

Stenson PD, Ball EV, Howells K, Phillips AD, Mort M, Cooper DN. Stenson PD, et al. Among authors: cooper dn. Hum Genomics. 2009 Dec;4(2):69-72. doi: 10.1186/1479-7364-4-2-69. Hum Genomics. 2009. PMID: 20038494 Free PMC article. No abstract available.

2

The human gene mutation database.

Cooper DN, Ball EV, Krawczak M. Cooper DN, et al. Nucleic Acids Res. 1998 Jan 1;26(1):285-7. doi: 10.1093/nar/26.1.285. Nucleic Acids Res. 1998. PMID: 9399854 Free PMC article.

3

Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes.

Krawczak M, Ball EV, Cooper DN. Krawczak M, et al. Among authors: cooper dn. Am J Hum Genet. 1998 Aug;63(2):474-88. doi: 10.1086/301965. Am J Hum Genet. 1998. PMID: 9683596 Free PMC article.

4

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

Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe S, Thomas N, Cooper DN. Krawczak M, et al. Among authors: cooper dn. Hum Mutat. 2000;15(1):45-51. doi: 10.1002/(SICI)1098-1004(200001)15:1<45::AID-HUMU10>3.0.CO;2-T. Hum Mutat. 2000. PMID: 10612821

5

Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions.

Krawczak M, Chuzhanova NA, Stenson PD, Johansen BN, Ball EV, Cooper DN. Krawczak M, et al. Among authors: cooper dn. Hum Genet. 2000 Oct;107(4):362-5. doi: 10.1007/s004390000393. Hum Genet. 2000. PMID: 11129336

6

Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity.

Chuzhanova NA, Anassis EJ, Ball EV, Krawczak M, Cooper DN. Chuzhanova NA, et al. Among authors: cooper dn. Hum Mutat. 2003 Jan;21(1):28-44. doi: 10.1002/humu.10146. Hum Mutat. 2003. PMID: 12497629

7

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. Stenson PD, et al. Among authors: cooper dn. Hum Mutat. 2003 Jun;21(6):577-81. doi: 10.1002/humu.10212. Hum Mutat. 2003. PMID: 12754702

8

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs.

Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN. Abeysinghe SS, et al. Among authors: cooper dn. Hum Mutat. 2003 Sep;22(3):229-44. doi: 10.1002/humu.10254. Hum Mutat. 2003. PMID: 12938088

9

Gross Rearrangement Breakpoint Database (GRaBD).

Abeysinghe SS, Stenson PD, Krawczak M, Cooper DN. Abeysinghe SS, et al. Among authors: cooper dn. Hum Mutat. 2004 Mar;23(3):219-21. doi: 10.1002/humu.20006. Hum Mutat. 2004. PMID: 14974079 Review.

10

Evolutionary conservation and selection of human disease gene orthologs in the rat and mouse genomes.

Huang H, Winter EE, Wang H, Weinstock KG, Xing H, Goodstadt L, Stenson PD, Cooper DN, Smith D, Albà MM, Ponting CP, Fechtel K. Huang H, et al. Among authors: cooper dn. Genome Biol. 2004;5(7):R47. doi: 10.1186/gb-2004-5-7-r47. Epub 2004 Jun 28. Genome Biol. 2004. PMID: 15239832 Free PMC article.

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