Mort M - Search Results

1

Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin.

Bacolla A, Sengupta S, Ye Z, Yang C, Mitra J, De-Paula RB, Hegde ML, Ahmed Z, Mort M, Cooper DN, Mitra S, Tainer JA. Bacolla A, et al. Among authors: mort m. Nucleic Acids Res. 2021 Jan 11;49(1):221-243. doi: 10.1093/nar/gkaa1120. Nucleic Acids Res. 2021. PMID: 33300026 Free PMC article.

2

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

3

In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularity.

Khan IA, Mort M, Buckland PR, O'Donovan MC, Cooper DN, Chuzhanova NA. Khan IA, et al. Among authors: mort m. In Silico Biol. 2006;6(1-2):23-34. In Silico Biol. 2006. PMID: 16789908

4

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

Krawczak M, Thomas NS, Hundrieser B, Mort M, Wittig M, Hampe J, Cooper DN. Krawczak M, et al. Among authors: mort m. Hum Mutat. 2007 Feb;28(2):150-8. doi: 10.1002/humu.20400. Hum Mutat. 2007. PMID: 17001642

5

A meta-analysis of nonsense mutations causing human genetic disease.

Mort M, Ivanov D, Cooper DN, Chuzhanova NA. Mort M, et al. Hum Mutat. 2008 Aug;29(8):1037-47. doi: 10.1002/humu.20763. Hum Mutat. 2008. PMID: 18454449

6

Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts.

Sanford JR, Wang X, Mort M, Vanduyn N, Cooper DN, Mooney SD, Edenberg HJ, Liu Y. Sanford JR, et al. Among authors: mort m. Genome Res. 2009 Mar;19(3):381-94. doi: 10.1101/gr.082503.108. Epub 2008 Dec 30. Genome Res. 2009. PMID: 19116412 Free PMC article.

7

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. Among authors: mort m. Genome Med. 2009 Jan 22;1(1):13. doi: 10.1186/gm13. Genome Med. 2009. PMID: 19348700 Free PMC article.

8

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. Among authors: mort m. 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.

9

In silico functional profiling of human disease-associated and polymorphic amino acid substitutions.

Mort M, Evani US, Krishnan VG, Kamati KK, Baenziger PH, Bagchi A, Peters BJ, Sathyesh R, Li B, Sun Y, Xue B, Shah NH, Kann MG, Cooper DN, Radivojac P, Mooney SD. Mort M, et al. Hum Mutat. 2010 Mar;31(3):335-46. doi: 10.1002/humu.21192. Hum Mutat. 2010. PMID: 20052762 Free PMC article.

10

Do inherited disease genes have distinguishing functional characteristics?

Cooper DN, Mort M. Cooper DN, et al. Among authors: mort m. Genet Test Mol Biomarkers. 2010 Jun;14(3):289-91. doi: 10.1089/gtmb.2010.0033. Genet Test Mol Biomarkers. 2010. PMID: 20367189 No abstract available.

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