檢索結果 - Matthew Mort

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  1. 1
    Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

    Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides 由 D.N. Cooper, Matthew Mort, Peter D. Stenson, Edward V. Ball, Nadia Chuzhanova

    出版 2010
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  2. 2
    Loss of exon identity is a common mechanism of human inherited disease

    Loss of exon identity is a common mechanism of human inherited disease 由 Timothy Sterne-Weiler, Jonathan M. Howard, Matthew Mort, D.N. Cooper, Jeremy R. Sanford

    出版 2011
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  3. 3
    Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

    Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing 由 Michael Krawczak, Nick Thomas, Bernd Hundrieser, Matthew Mort, Michael Wittig, Jochen Hampe, D.N. Cooper

    出版 2006
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  4. 4
    The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

    The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine 由 Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Shaw, Andrew D. Phillips, D.N. Cooper

    出版 2013
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  5. 5
    The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics

    The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics 由 Peter D. Stenson, Edward V. Ball, Katy Howells, Andrew D. Phillips, Matthew Mort, D.N. Cooper

    出版 2009
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    Editorial
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  6. 6
    Gain and loss of phosphorylation sites in human cancer

    Gain and loss of phosphorylation sites in human cancer 由 Predrag Radivojac, Peter H. Baenziger, Maricel G. Kann, Matthew Mort, Matthew W. Hahn, Sean D. Mooney

    出版 2008
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  7. 7
    FATHMM-XF: accurate prediction of pathogenic point mutations via extended features

    FATHMM-XF: accurate prediction of pathogenic point mutations via extended features 由 Mark F. Rogers, Hashem A. Shihab, Matthew Mort, D.N. Cooper, Tom R. Gaunt, Colin Campbell

    出版 2017
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  8. 8
    Developmental Gene Expression Differences between Humans and Mammalian Models

    Developmental Gene Expression Differences between Humans and Mammalian Models 由 Margarida Cardoso-Moreira, Ioannis Sarropoulos, Britta Velten, Matthew Mort, D.N. Cooper, Wolfgang Huber, Henrik Kaessmann

    出版 2020
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  9. 9
    DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels

    DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels 由 Huiying Zhao, Yuedong Yang, Hai Lin, Xinjun Zhang, Matthew Mort, D.N. Cooper, Yunlong Liu, Yaoqi Zhou

    出版 2013
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  10. 10
    Ranking non-synonymous single nucleotide polymorphisms based on disease concepts

    Ranking non-synonymous single nucleotide polymorphisms based on disease concepts 由 Hashem A. Shihab, Julian Gough, Matthew Mort, D.N. Cooper, Ian N.M. Day, Tom R. Gaunt

    出版 2014
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  11. 11
    The Human Gene Mutation Database: 2008 update

    The Human Gene Mutation Database: 2008 update 由 Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Howells, Andrew D. Phillips, Nick Thomas, D.N. Cooper

    出版 2009
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  12. 12
    An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome

    An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome 由 Michael Ferlaino, Mark F. Rogers, Hashem A. Shihab, Matthew Mort, D.N. Cooper, Tom R. Gaunt, Colin Campbell

    出版 2017
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  13. 13
    DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels

    DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein leve... 由 Lukas Folkman, Yuedong Yang, Zhixiu Li, Bela Stantić, Abdul Sattar, Matthew Mort, D.N. Cooper, Yunlong Liu, Yaoqi Zhou

    出版 2015
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  14. 14
    Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants

    Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants 由 Mark Livingstone, Lukas Folkman, Yuedong Yang, Ping Zhang, Matthew Mort, D.N. Cooper, Yunlong Liu, Bela Stantić, Yaoqi Zhou

    出版 2017
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  15. 15
    A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

    A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease 由 Chee‐Seng Ku, Constantin Polychronakos, Eng‐King Tan, Nasheen Naidoo, Yudi Pawitan, Dimitrios H Roukos, Matthew Mort, D.N. Cooper

    出版 2012
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  16. 16
    Automated inference of molecular mechanisms of disease from amino acid substitutions

    Automated inference of molecular mechanisms of disease from amino acid substitutions 由 Biao Li, Vidhya G. Krishnan, Matthew Mort, Fuxiao Xin, Kishore K. Kamati, D.N. Cooper, Sean D. Mooney, Predrag Radivojac

    出版 2009
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  17. 17
    Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts

    Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts 由 Jeremy R. Sanford, Xin Wang, Matthew Mort, Natalia VanDuyn, D.N. Cooper, Sean D. Mooney, Howard J. Edenberg, Yunlong Liu

    出版 2008
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  18. 18
    MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing

    MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing 由 Matthew Mort, Timothy Sterne-Weiler, Biao Li, Edward V. Ball, D.N. Cooper, Predrag Radivojac, Jeremy R. Sanford, Sean D. Mooney

    出版 2014
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  19. 19
    An integrative approach to predicting the functional effects of non-coding and coding sequence variation

    An integrative approach to predicting the functional effects of non-coding and coding sequence variation 由 Hashem A. Shihab, Mark F. Rogers, Julian Gough, Matthew Mort, D.N. Cooper, Ian N.M. Day, Tom R. Gaunt, Colin Campbell

    出版 2015
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  20. 20
    The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

    The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies 由 Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, D.N. Cooper

    出版 2017
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