1 to 8 of 8 literature results

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

  Metazoan genes are encrypted with at least two superimposed codes: the genetic code to specify the primary structure of proteins and the splicing code…

  Authors: Jeremy R Sanford, Xin Wang, Matthew Mort, Natalia Vanduyn, David N Cooper, Sean D Mooney, Howard J Edenberg, Yunlong Liu

  Source: Genome research. 2009 Mar

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

  Nonsense mutations account for approximately 11% of all described gene lesions causing human inherited disease and approximately 20% of disease-associ…

  Authors: Matthew Mort, Dobril Ivanov, David N Cooper, Nadia A Chuzhanova

  Source: Human mutation. 2008 Aug

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

  An important challenge in translational bioinformatics is to understand how genetic variation gives rise to molecular changes at the protein level tha…

  Authors: Matthew Mort, Uday S Evani, Vidhya G Krishnan, Kishore K Kamati, Peter H Baenziger, Angshuman Bagchi, Brandon J Peters, Rakesh Sathyesh, Biao Li, Yanan Sun,…

  Source: Human mutation. 2010 Mar

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

  Although single base-pair substitutions in splice junctions constitute at least 10% of all mutations causing human inherited disease, the factors that…

  Authors: Michael Krawczak, Nick S T Thomas, Bernd Hundrieser, Matthew Mort, Michael Wittig, Jochen Hampe, David N Cooper

  Source: Human mutation. 2007 Feb

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• Human Gene Mutation Database (HGMD): 2003 update.

  The Human Gene Mutation Database (HGMD) constitutes a comprehensive core collection of data on germ-line mutations in nuclear genes underlying or asso…

  Authors: Peter D Stenson, Edward V Ball, Matthew Mort, Andrew D Phillips, Jacqueline A Shiel, Nick S T Thomas, Shaun Abeysinghe, Michael Krawczak, David N Cooper

  Source: Human mutation. 2003 Jun

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• The Human Gene Mutation Database: 2008 update.

  The Human Gene Mutation Database (HGMD((R))) is a comprehensive core collection of germline mutations in nuclear genes that underlie or are associated…

  Authors: Peter D Stenson, Matthew Mort, Edward V Ball, Katy Howells, Andrew D Phillips, Nick St Thomas, David N Cooper

  Source: Genome medicine. 2009

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

  DNA sequence features were sought that could be used for the in silico ascertainment of the likely functional consequences of single nucleotide change…

  Authors: Imtiaz A Khan, Matthew Mort, Paul R Buckland, Michael C O'Donovan, David N Cooper, Nadia A Chuzhanova

  Source: In silico biology. 2006

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• The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics.

  Authors: Peter D Stenson, Edward V Ball, Katy Howells, Andrew D Phillips, Matthew Mort, David N Cooper

  Source: Human genomics. 2009 Dec

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