Cooper DN - Search Results

1

ExonImpact: Prioritizing Pathogenic Alternative Splicing Events.

Li M, Feng W, Zhang X, Yang Y, Wang K, Mort M, Cooper DN, Wang Y, Zhou Y, Liu Y. Li M, et al. Among authors: cooper dn. Hum Mutat. 2017 Jan;38(1):16-24. doi: 10.1002/humu.23111. Epub 2016 Oct 3. Hum Mutat. 2017. PMID: 27604408 Free PMC article.

2

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

3

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. Terp BN, et al. Among authors: cooper dn. Hum Mutat. 2002 Aug;20(2):98-109. doi: 10.1002/humu.10095. Hum Mutat. 2002. PMID: 12124990

4

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.

Millar DS, Lewis MD, Horan M, Newsway V, Easter TE, Gregory JW, Fryklund L, Norin M, Crowne EC, Davies SJ, Edwards P, Kirk J, Waldron K, Smith PJ, Phillips JA 3rd, Scanlon MF, Krawczak M, Cooper DN, Procter AM. Millar DS, et al. Among authors: cooper dn. Hum Mutat. 2003 Apr;21(4):424-40. doi: 10.1002/humu.10168. Hum Mutat. 2003. PMID: 12655557

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. 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

6

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

7

Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends.

Chuzhanova N, Abeysinghe SS, Krawczak M, Cooper DN. Chuzhanova N, et al. Among authors: cooper dn. Hum Mutat. 2003 Sep;22(3):245-51. doi: 10.1002/humu.10253. Hum Mutat. 2003. PMID: 12938089

8

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.

9

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.

Ball EV, Stenson PD, Abeysinghe SS, Krawczak M, Cooper DN, Chuzhanova NA. Ball EV, et al. Among authors: cooper dn. Hum Mutat. 2005 Sep;26(3):205-13. doi: 10.1002/humu.20212. Hum Mutat. 2005. PMID: 16086312

10

In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularity.

Khan IA, Mort M, Buckland PR, O'Donovan MC, Cooper DN, Chuzhanova NA. Khan IA, et al. Among authors: cooper dn. In Silico Biol. 2006;6(1-2):23-34. In Silico Biol. 2006. PMID: 16789908

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