Cooper DN - Search Results

1

Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel).

Douville C, Masica DL, Stenson PD, Cooper DN, Gygax DM, Kim R, Ryan M, Karchin R. Douville C, et al. Among authors: cooper dn. Hum Mutat. 2016 Jan;37(1):28-35. doi: 10.1002/humu.22911. Epub 2015 Oct 26. Hum Mutat. 2016. PMID: 26442818 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

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

4

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

5

Human growth hormone 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region.

Horan M, Millar DS, Hedderich J, Lewis G, Newsway V, Mo N, Fryklund L, Procter AM, Krawczak M, Cooper DN. Horan M, et al. Among authors: cooper dn. Hum Mutat. 2003 Apr;21(4):408-23. doi: 10.1002/humu.10167. Hum Mutat. 2003. PMID: 12655556

6

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

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

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

10

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.

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