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    Results: 1 to 20 of 31

    1.

    CRAVAT: cancer-related analysis of variants toolkit.

    Douville C, Carter H, Kim R, Niknafs N, Diekhans M, Stenson PD, Cooper DN, Ryan M, Karchin R.

    Bioinformatics. 2013 Mar 1;29(5):647-8. doi: 10.1093/bioinformatics/btt017. Epub 2013 Jan 16.

    PMID:
    23325621
    [PubMed - in process]
    Free PMC Article
    2.

    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
    3.

    Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models.

    Shihab HA, Gough J, Cooper DN, Stenson PD, Barker GL, Edwards KJ, Day IN, Gaunt TR.

    Hum Mutat. 2013 Jan;34(1):57-65. doi: 10.1002/humu.22225. Epub 2012 Nov 2.

    PMID:
    23033316
    [PubMed - in process]
    Free PMC Article
    4.

    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]
    5.

    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
    6.

    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]
    7.

    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]
    8.

    Delineating the Hemostaseome as an aid to individualize the analysis of the hereditary basis of thrombotic and bleeding disorders.

    Fechtel K, Osterbur ML, Kehrer-Sawatzki H, Stenson PD, Cooper DN.

    Hum Genet. 2011 Jul;130(1):149-66. doi: 10.1007/s00439-011-0984-y. Epub 2011 May 3. Review.

    PMID:
    21537949
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes.

    Ivanov D, Hamby SE, Stenson PD, Phillips AD, Kehrer-Sawatzki H, Cooper DN, Chuzhanova N.

    Hum Mutat. 2011 Jun;32(6):620-32. doi: 10.1002/humu.21483. Epub 2011 Mar 22.

    PMID:
    21432943
    [PubMed - indexed for MEDLINE]
    10.

    Meiotic recombination favors the spreading of deleterious mutations in human populations.

    Necşulea A, Popa A, Cooper DN, Stenson PD, Mouchiroud D, Gautier C, Duret L.

    Hum Mutat. 2011 Feb;32(2):198-206. doi: 10.1002/humu.21407. Epub 2011 Jan 25.

    PMID:
    21120948
    [PubMed - indexed for MEDLINE]
    11.

    Prospects for the automated extraction of mutation data from the scientific literature.

    Stenson PD, Cooper DN.

    Hum Genomics. 2010 Oct;5(1):1-4. No abstract available.

    PMID:
    21106485
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    12.
    13.

    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]
    14.

    Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci.

    Quemener S, Chen JM, Chuzhanova N, Bénech C, Casals T, Macek M Jr, Bienvenu T, McDevitt T, Farrell PM, Loumi O, Messaoud T, Cuppens H, Cutting GR, Stenson PD, Giteau K, Audrézet MP, Cooper DN, Férec C.

    Hum Mutat. 2010 Apr;31(4):421-8. doi: 10.1002/humu.21196.

    PMID:
    20052766
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    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.

    Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties.

    Bacolla A, Larson JE, Collins JR, Li J, Milosavljevic A, Stenson PD, Cooper DN, Wells RD.

    Genome Res. 2008 Oct;18(10):1545-53. doi: 10.1101/gr.078303.108. Epub 2008 Aug 7.

    PMID:
    18687880
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    18.

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

    Cooper DN, Stenson PD, Chuzhanova NA.

    Curr Protoc Bioinformatics. 2006 Jan;Chapter 1:Unit 1.13. doi: 10.1002/0471250953.bi0113s12.

    PMID:
    18428754
    [PubMed - indexed for MEDLINE]
    19.

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

    Stenson PD, Ball E, Howells K, Phillips A, Mort M, Cooper DN.

    J Med Genet. 2008 Feb;45(2):124-6. doi: 10.1136/jmg.2007.055210. No abstract available.

    PMID:
    18245393
    [PubMed - indexed for MEDLINE]
    20.

    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

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