Cooper DN - Search Results

1

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.

Rivas MA, Pirinen M, Conrad DF, Lek M, Tsang EK, Karczewski KJ, Maller JB, Kukurba KR, DeLuca DS, Fromer M, Ferreira PG, Smith KS, Zhang R, Zhao F, Banks E, Poplin R, Ruderfer DM, Purcell SM, Tukiainen T, Minikel EV, Stenson PD, Cooper DN, Huang KH, Sullivan TJ, Nedzel J; GTEx Consortium; Geuvadis Consortium; Bustamante CD, Li JB, Daly MJ, Guigo R, Donnelly P, Ardlie K, Sammeth M, Dermitzakis ET, McCarthy MI, Montgomery SB, Lappalainen T, MacArthur DG. Rivas MA, et al. Among authors: cooper dn. Science. 2015 May 8;348(6235):666-9. doi: 10.1126/science.1261877. Science. 2015. PMID: 25954003 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

Disease-causing mutations in the human genome.

Antonarakis SE, Krawczak M, Cooper DN. Antonarakis SE, et al. Among authors: cooper dn. Eur J Pediatr. 2000 Dec;159 Suppl 3:S173-8. doi: 10.1007/pl00014395. Eur J Pediatr. 2000. PMID: 11216894 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. 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

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.

7

Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage.

Chen JM, Chuzhanova N, Stenson PD, Férec C, Cooper DN. Chen JM, et al. Among authors: cooper dn. Hum Mutat. 2005 Feb;25(2):207-21. doi: 10.1002/humu.20133. Hum Mutat. 2005. PMID: 15643617

8

Complex gene rearrangements caused by serial replication slippage.

Chen JM, Chuzhanova N, Stenson PD, Férec C, Cooper DN. Chen JM, et al. Among authors: cooper dn. Hum Mutat. 2005 Aug;26(2):125-34. doi: 10.1002/humu.20202. Hum Mutat. 2005. PMID: 15977178

9

A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease.

Chen JM, Stenson PD, Cooper DN, Férec C. Chen JM, et al. Among authors: cooper dn. Hum Genet. 2005 Sep;117(5):411-27. doi: 10.1007/s00439-005-1321-0. Epub 2005 Jun 28. Hum Genet. 2005. PMID: 15983781 Review.

10

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

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