Stenson PD - Search Results

1

Using exome data to identify malignant hyperthermia susceptibility mutations.

Gonsalves SG, Ng D, Johnston JJ, Teer JK, Stenson PD, Cooper DN, Mullikin JC, Biesecker LG; NISC Comparative Sequencing Program. Gonsalves SG, et al. Among authors: stenson pd. Anesthesiology. 2013 Nov;119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. Anesthesiology. 2013. PMID: 24195946 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: stenson pd. 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: stenson pd. Hum Genet. 2000 Oct;107(4):362-5. doi: 10.1007/s004390000393. Hum Genet. 2000. PMID: 11129336

4

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. Hum Mutat. 2003 Jun;21(6):577-81. doi: 10.1002/humu.10212. Hum Mutat. 2003. PMID: 12754702

5

Gross Rearrangement Breakpoint Database (GRaBD).

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

6

Complex gene rearrangements caused by serial replication slippage.

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

7

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: stenson pd. 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.

8

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: stenson pd. Hum Mutat. 2005 Sep;26(3):205-13. doi: 10.1002/humu.20212. Hum Mutat. 2005. PMID: 16086312

9

Human Gene Mutation Database: towards a comprehensive central mutation database.

Stenson PD, Ball E, Howells K, Phillips A, Mort M, Cooper DN. Stenson PD, et al. J Med Genet. 2008 Feb;45(2):124-6. doi: 10.1136/jmg.2007.055210. J Med Genet. 2008. PMID: 18245393 No abstract available.

10

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

Cooper DN, Stenson PD, Chuzhanova NA. Cooper DN, et al. Among authors: stenson pd. Curr Protoc Bioinformatics. 2006 Jan;Chapter 1:Unit 1.13. doi: 10.1002/0471250953.bi0113s12. Curr Protoc Bioinformatics. 2006. PMID: 18428754

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