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Results: 1 to 20 of 30

1.

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M, Sterne-Weiler T, Li B, Ball EV, Cooper DN, Radivojac P, Sanford JR, Mooney SD.

Genome Biol. 2014 Jan 13;15(1):R19. doi: 10.1186/gb-2014-15-1-r19.

PMID:
24451234
[PubMed - in process]
Free PMC Article
2.

Guanine holes are prominent targets for mutation in cancer and inherited disease.

Bacolla A, Temiz NA, Yi M, Ivanic J, Cer RZ, Donohue DE, Ball EV, Mudunuri US, Wang G, Jain A, Volfovsky N, Luke BT, Stephens RM, Cooper DN, Collins JR, Vasquez KM.

PLoS Genet. 2013;9(9):e1003816. doi: 10.1371/journal.pgen.1003816. Epub 2013 Sep 26.

PMID:
24086153
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

Hum Genet. 2014 Jan;133(1):1-9. Review.

PMID:
24077912
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

Am J Hum Genet. 2012 Dec 7;91(6):1022-32. doi: 10.1016/j.ajhg.2012.10.015.

PMID:
23217326
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

Curr Protoc Bioinformatics. 2012 Sep;Chapter 1:Unit1.13. doi: 10.1002/0471250953.bi0113s39.

PMID:
22948725
[PubMed - indexed for MEDLINE]
6.

Insights into hominid evolution from the gorilla genome sequence.

Scally A, Dutheil JY, Hillier LW, Jordan GE, Goodhead I, Herrero J, Hobolth A, Lappalainen T, Mailund T, Marques-Bonet T, McCarthy S, Montgomery SH, Schwalie PC, Tang YA, Ward MC, Xue Y, Yngvadottir B, Alkan C, Andersen LN, Ayub Q, Ball EV, Beal K, Bradley BJ, Chen Y, Clee CM, Fitzgerald S, Graves TA, Gu Y, Heath P, Heger A, Karakoc E, Kolb-Kokocinski A, Laird GK, Lunter G, Meader S, Mort M, Mullikin JC, Munch K, O'Connor TD, Phillips AD, Prado-Martinez J, Rogers AS, Sajjadian S, Schmidt D, Shaw K, Simpson JT, Stenson PD, Turner DJ, Vigilant L, Vilella AJ, Whitener W, Zhu B, Cooper DN, de Jong P, Dermitzakis ET, Eichler EE, Flicek P, Goldman N, Mundy NI, Ning Z, Odom DT, Ponting CP, Quail MA, Ryder OA, Searle SM, Warren WC, Wilson RK, Schierup MH, Rogers J, Tyler-Smith C, Durbin R.

Nature. 2012 Mar 7;483(7388):169-75. doi: 10.1038/nature10842.

PMID:
22398555
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Genome sequencing and comparison of two nonhuman primate animal models, the cynomolgus and Chinese rhesus macaques.

Yan G, Zhang G, Fang X, Zhang Y, Li C, Ling F, Cooper DN, Li Q, Li Y, van Gool AJ, Du H, Chen J, Chen R, Zhang P, Huang Z, Thompson JR, Meng Y, Bai Y, Wang J, Zhuo M, Wang T, Huang Y, Wei L, Li J, Wang Z, Hu H, Yang P, Le L, Stenson PD, Li B, Liu X, Ball EV, An N, Huang Q, Zhang Y, Fan W, Zhang X, Li Y, Wang W, Katze MG, Su B, Nielsen R, Yang H, Wang J, Wang X, Wang J.

Nat Biotechnol. 2011 Oct 16;29(11):1019-23. doi: 10.1038/nbt.1992.

PMID:
22002653
[PubMed - indexed for MEDLINE]
8.

The functional spectrum of low-frequency coding variation.

Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge M, Blackwell T, Zheng-Bradley X, Chen Y, Challis D, Clarke L, Ball EV, Cibulskis K, Cooper DN, Fulton B, Hartl C, Koboldt D, Muzny D, Smith R, Sougnez C, Stewart C, Ward A, Yu J, Xue Y, Altshuler D, Bustamante CD, Clark AG, Daly M, DePristo M, Flicek P, Gabriel S, Mardis E, Palotie A, Gibbs R; 1000 Genomes Project.

Genome Biol. 2011 Sep 14;12(9):R84. doi: 10.1186/gb-2011-12-9-r84.

PMID:
21917140
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.

Zhang G, Pei Z, Ball EV, Mort M, Kehrer-Sawatzki H, Cooper DN.

Hum Genomics. 2011 Jul;5(5):453-84.

PMID:
21807602
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease.

Wolf A, Caliebe A, Thomas NS, Ball EV, Mort M, Stenson PD, Krawczak M, Cooper DN.

Hum Mutat. 2011 Oct;32(10):1137-43. doi: 10.1002/humu.21547. Epub 2011 Sep 8.

PMID:
21681852
[PubMed - indexed for MEDLINE]
11.

Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.

Zhang G, Pei Z, Krawczak M, Ball EV, Mort M, Kehrer-Sawatzki H, Cooper DN.

Hum Mutat. 2010 Dec;31(12):1286-93. doi: 10.1002/humu.21389.

PMID:
21064102
[PubMed - indexed for MEDLINE]
12.
13.

Chromosomal distribution of disease genes in the human genome.

Cooper DN, Ball EV, Mort M.

Genet Test Mol Biomarkers. 2010 Aug;14(4):441-6. doi: 10.1089/gtmb.2010.0081. Review.

PMID:
20642358
[PubMed - indexed for MEDLINE]
14.

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.

Cooper DN, Chen JM, Ball EV, Howells K, Mort M, Phillips AD, Chuzhanova N, Krawczak M, Kehrer-Sawatzki H, Stenson PD.

Hum Mutat. 2010 Jun;31(6):631-55. doi: 10.1002/humu.21260. Review.

PMID:
20506564
[PubMed - indexed for MEDLINE]
15.

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.

Hum Genomics. 2009 Dec;4(2):69-72. No abstract available.

PMID:
20038494
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The Human Gene Mutation Database: 2008 update.

Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN.

Genome Med. 2009 Jan 22;1(1):13. doi: 10.1186/gm13.

PMID:
19348700
[PubMed]
Free PMC Article
17.

Evolutionary and biomedical insights from the rhesus macaque genome.

Rhesus Macaque Genome Sequencing and Analysis Consortium, Gibbs RA, Rogers J, Katze MG, Bumgarner R, Weinstock GM, Mardis ER, Remington KA, Strausberg RL, Venter JC, Wilson RK, Batzer MA, Bustamante CD, Eichler EE, Hahn MW, Hardison RC, Makova KD, Miller W, Milosavljevic A, Palermo RE, Siepel A, Sikela JM, Attaway T, Bell S, Bernard KE, Buhay CJ, Chandrabose MN, Dao M, Davis C, Delehaunty KD, Ding Y, Dinh HH, Dugan-Rocha S, Fulton LA, Gabisi RA, Garner TT, Godfrey J, Hawes AC, Hernandez J, Hines S, Holder M, Hume J, Jhangiani SN, Joshi V, Khan ZM, Kirkness EF, Cree A, Fowler RG, Lee S, Lewis LR, Li Z, Liu YS, Moore SM, Muzny D, Nazareth LV, Ngo DN, Okwuonu GO, Pai G, Parker D, Paul HA, Pfannkoch C, Pohl CS, Rogers YH, Ruiz SJ, Sabo A, Santibanez J, Schneider BW, Smith SM, Sodergren E, Svatek AF, Utterback TR, Vattathil S, Warren W, White CS, Chinwalla AT, Feng Y, Halpern AL, Hillier LW, Huang X, Minx P, Nelson JO, Pepin KH, Qin X, Sutton GG, Venter E, Walenz BP, Wallis JW, Worley KC, Yang SP, Jones SM, Marra MA, Rocchi M, Schein JE, Baertsch R, Clarke L, Csürös M, Glasscock J, Harris RA, Havlak P, Jackson AR, Jiang H, Liu Y, Messina DN, Shen Y, Song HX, Wylie T, Zhang L, Birney E, Han K, Konkel MK, Lee J, Smit AF, Ullmer B, Wang H, Xing J, Burhans R, Cheng Z, Karro JE, Ma J, Raney B, She X, Cox MJ, Demuth JP, Dumas LJ, Han SG, Hopkins J, Karimpour-Fard A, Kim YH, Pollack JR, Vinar T, Addo-Quaye C, Degenhardt J, Denby A, Hubisz MJ, Indap A, Kosiol C, Lahn BT, Lawson HA, Marklein A, Nielsen R, Vallender EJ, Clark AG, Ferguson B, Hernandez RD, Hirani K, Kehrer-Sawatzki H, Kolb J, Patil S, Pu LL, Ren Y, Smith DG, Wheeler DA, Schenck I, Ball EV, Chen R, Cooper DN, Giardine B, Hsu F, Kent WJ, Lesk A, Nelson DL, O'brien WE, Prüfer K, Stenson PD, Wallace JC, Ke H, Liu XM, Wang P, Xiang AP, Yang F, Barber GP, Haussler D, Karolchik D, Kern AD, Kuhn RM, Smith KE, Zwieg AS.

Science. 2007 Apr 13;316(5822):222-34.

PMID:
17431167
[PubMed - indexed for MEDLINE]
Free Article
18.

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.

Hum Mutat. 2005 Sep;26(3):205-13.

PMID:
16086312
[PubMed - indexed for MEDLINE]
19.

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs.

Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN.

Hum Mutat. 2003 Sep;22(3):229-44.

PMID:
12938088
[PubMed - indexed for MEDLINE]
20.

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.

Hum Mutat. 2003 Jun;21(6):577-81.

PMID:
12754702
[PubMed - indexed for MEDLINE]

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