Výsledky vyhledávání - 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 Autor D.N. Cooper, Matthew Mort, Peter D. Stenson, Edward V. Ball, Nadia Chuzhanova

    Vydáno 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 Autor Timothy Sterne-Weiler, Jonathan M. Howard, Matthew Mort, D.N. Cooper, Jeremy R. Sanford

    Vydáno 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 Autor Michael Krawczak, Nick Thomas, Bernd Hundrieser, Matthew Mort, Michael Wittig, Jochen Hampe, D.N. Cooper

    Vydáno 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 Autor Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Shaw, Andrew D. Phillips, D.N. Cooper

    Vydáno 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 Autor Peter D. Stenson, Edward V. Ball, Katy Howells, Andrew D. Phillips, Matthew Mort, D.N. Cooper

    Vydáno 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 Autor Predrag Radivojac, Peter H. Baenziger, Maricel G. Kann, Matthew Mort, Matthew W. Hahn, Sean D. Mooney

    Vydáno 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 Autor Mark F. Rogers, Hashem A. Shihab, Matthew Mort, D.N. Cooper, Tom R. Gaunt, Colin Campbell

    Vydáno 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 Autor Margarida Cardoso-Moreira, Ioannis Sarropoulos, Britta Velten, Matthew Mort, D.N. Cooper, Wolfgang Huber, Henrik Kaessmann

    Vydáno 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 Autor Huiying Zhao, Yuedong Yang, Hai Lin, Xinjun Zhang, Matthew Mort, D.N. Cooper, Yunlong Liu, Yaoqi Zhou

    Vydáno 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 Autor Hashem A. Shihab, Julian Gough, Matthew Mort, D.N. Cooper, Ian N.M. Day, Tom R. Gaunt

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

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

    Vydáno 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 Autor Michael Ferlaino, Mark F. Rogers, Hashem A. Shihab, Matthew Mort, D.N. Cooper, Tom R. Gaunt, Colin Campbell

    Vydáno 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... Autor Lukas Folkman, Yuedong Yang, Zhixiu Li, Bela Stantić, Abdul Sattar, Matthew Mort, D.N. Cooper, Yunlong Liu, Yaoqi Zhou

    Vydáno 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 Autor Mark Livingstone, Lukas Folkman, Yuedong Yang, Ping Zhang, Matthew Mort, D.N. Cooper, Yunlong Liu, Bela Stantić, Yaoqi Zhou

    Vydáno 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 Autor Chee‐Seng Ku, Constantin Polychronakos, Eng‐King Tan, Nasheen Naidoo, Yudi Pawitan, Dimitrios H Roukos, Matthew Mort, D.N. Cooper

    Vydáno 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 Autor Biao Li, Vidhya G. Krishnan, Matthew Mort, Fuxiao Xin, Kishore K. Kamati, D.N. Cooper, Sean D. Mooney, Predrag Radivojac

    Vydáno 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 Autor Jeremy R. Sanford, Xin Wang, Matthew Mort, Natalia VanDuyn, D.N. Cooper, Sean D. Mooney, Howard J. Edenberg, Yunlong Liu

    Vydáno 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 Autor Matthew Mort, Timothy Sterne-Weiler, Biao Li, Edward V. Ball, D.N. Cooper, Predrag Radivojac, Jeremy R. Sanford, Sean D. Mooney

    Vydáno 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 Autor Hashem A. Shihab, Mark F. Rogers, Julian Gough, Matthew Mort, D.N. Cooper, Ian N.M. Day, Tom R. Gaunt, Colin Campbell

    Vydáno 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 Autor Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, D.N. Cooper

    Vydáno 2017
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