Phillips A - Search Results

1

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. Among authors: phillips a. J Med Genet. 2008 Feb;45(2):124-6. doi: 10.1136/jmg.2007.055210. J Med Genet. 2008. PMID: 18245393 No abstract available.

2

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.

Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. Stenson PD, et al. Among authors: phillips a. Hum Genet. 2014 Jan;133(1):1-9. doi: 10.1007/s00439-013-1358-4. Hum Genet. 2014. PMID: 24077912 Free PMC article. Review.

3

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, Hussain M, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2017 Jun;136(6):665-677. doi: 10.1007/s00439-017-1779-6. Epub 2017 Mar 27. Hum Genet. 2017. PMID: 28349240 Free PMC article. Review.

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

5

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics.

Stenson PD, Ball EV, Howells K, Phillips AD, Mort M, Cooper DN. Stenson PD, et al. Hum Genomics. 2009 Dec;4(2):69-72. doi: 10.1186/1479-7364-4-2-69. Hum Genomics. 2009. PMID: 20038494 Free PMC article. No abstract available.

6

Variation in genome-wide mutation rates within and between human families.

Conrad DF, Keebler JE, DePristo MA, Lindsay SJ, Zhang Y, Casals F, Idaghdour Y, Hartl CL, Torroja C, Garimella KV, Zilversmit M, Cartwright R, Rouleau GA, Daly M, Stone EA, Hurles ME, Awadalla P; 1000 Genomes Project. Conrad DF, et al. Nat Genet. 2011 Jun 12;43(7):712-4. doi: 10.1038/ng.862. Nat Genet. 2011. PMID: 21666693 Free PMC article.

7

The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution.

Stenson PD, Ball EV, Mort M, Phillips AD, Shaw K, Cooper DN. Stenson PD, et al. Curr Protoc Bioinformatics. 2012 Sep;Chapter 1:1.13.1-1.13.20. doi: 10.1002/0471250953.bi0113s39. Curr Protoc Bioinformatics. 2012. PMID: 22948725

8

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.

Xue Y, Chen Y, Ayub Q, Huang N, Ball EV, Mort M, Phillips AD, Shaw K, Stenson PD, Cooper DN, Tyler-Smith C; 1000 Genomes Project Consortium. Xue Y, et al. Am J Hum Genet. 2012 Dec 7;91(6):1022-32. doi: 10.1016/j.ajhg.2012.10.015. Am J Hum Genet. 2012. PMID: 23217326 Free PMC article.

9

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting.

Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. Stenson PD, et al. Hum Genet. 2020 Oct;139(10):1197-1207. doi: 10.1007/s00439-020-02199-3. Epub 2020 Jun 28. Hum Genet. 2020. PMID: 32596782 Free PMC article. Review.

10

The Human Gene Mutation Database: 2008 update.

Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN. Stenson PD, et al. Genome Med. 2009 Jan 22;1(1):13. doi: 10.1186/gm13. Genome Med. 2009. PMID: 19348700 Free PMC article.

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