Stenson PD - Search Results

1

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Chen YC, Douville C, Wang C, Niknafs N, Yeo G, Beleva-Guthrie V, Carter H, Stenson PD, Cooper DN, Li B, Mooney S, Karchin R. Chen YC, et al. Among authors: stenson pd. PLoS Comput Biol. 2014 Sep 4;10(9):e1003825. doi: 10.1371/journal.pcbi.1003825. eCollection 2014 Sep. PLoS Comput Biol. 2014. PMID: 25188385 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

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: stenson pd. Hum Mutat. 2005 Feb;25(2):207-21. doi: 10.1002/humu.20133. Hum Mutat. 2005. PMID: 15643617

7

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

8

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.

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

10

Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions.

Chen JM, Chuzhanova N, Stenson PD, Férec C, Cooper DN. Chen JM, et al. Among authors: stenson pd. Hum Mutat. 2005 Oct;26(4):362-73. doi: 10.1002/humu.20230. Hum Mutat. 2005. PMID: 16110485

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