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Research Article

Discovery of Candidate Disease Genes in ENU–Induced Mouse Mutants by Large-Scale Sequencing, Including a Splice-Site Mutation in Nucleoredoxin

  • Melissa K. Boles equal contributor,

    equal contributor Contributed equally to this work with: Melissa K. Boles, Bonney M. Wilkinson

    Affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

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  • Bonney M. Wilkinson equal contributor,

    equal contributor Contributed equally to this work with: Melissa K. Boles, Bonney M. Wilkinson

    Affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

    X
  • Laurens G. Wilming,

    Affiliation: The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom

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  • Bin Liu,

    Affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

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  • Frank J. Probst,

    Affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

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  • Jennifer Harrow,

    Affiliation: The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom

    X
  • Darren Grafham,

    Affiliation: The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom

    X
  • Kathryn E. Hentges,

    Affiliation: Faculty of Life Sciences, University of Manchester, Manchester, United Kingdom

    X
  • Lanette P. Woodward,

    Affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

    X
  • Andrea Maxwell,

    Affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

    X
  • Karen Mitchell,

    Affiliation: Faculty of Life Sciences, University of Manchester, Manchester, United Kingdom

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  • Michael D. Risley,

    Affiliation: Faculty of Life Sciences, University of Manchester, Manchester, United Kingdom

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  • Randy Johnson,

    Affiliation: The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America

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  • Karen Hirschi,

    Affiliation: Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America

    X
  • James R. Lupski,

    Affiliations: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America, Texas Children's Hospital, Houston, Texas, United States of America

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  • Yosuke Funato,

    Affiliation: Laboratory of Intracellular Signaling, Institute for Protein Research, Osaka University, Osaka, Japan

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  • Hiroaki Miki,

    Affiliation: Laboratory of Intracellular Signaling, Institute for Protein Research, Osaka University, Osaka, Japan

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  • Pablo Marin-Garcia,

    Affiliation: The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom

    X
  • Lucy Matthews,

    Affiliation: The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom

    X
  • Alison J. Coffey,

    Affiliation: The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom

    X
  • Anne Parker,

    Affiliation: The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom

    X
  • Tim J. Hubbard,

    Affiliation: The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom

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  • Jane Rogers,

    Affiliation: The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom

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  • Allan Bradley,

    Affiliation: The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom

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  • David J. Adams mail,

    mjustice@bcm.edu (MJJ);da1@sanger.ac.uk (DJA)

    Affiliation: The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom

    X
  • Monica J. Justice mail

    mjustice@bcm.edu (MJJ);da1@sanger.ac.uk (DJA)

    Affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America

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  • Published: December 11, 2009
  • DOI: 10.1371/journal.pgen.1000759

About the Authors

Melissa K. Boles, Bonney M. Wilkinson, Bin Liu, Frank J. Probst, Lanette P. Woodward, Andrea Maxwell, James R. Lupski, Monica J. Justice
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
Laurens G. Wilming, Jennifer Harrow, Darren Grafham, Pablo Marin-Garcia, Lucy Matthews, Alison J. Coffey, Anne Parker, Tim J. Hubbard, Jane Rogers, Allan Bradley, David J. Adams
The Wellcome Trust Sanger Institute, Hinxton, Cambridgeshire, United Kingdom
Kathryn E. Hentges, Karen Mitchell, Michael D. Risley
Faculty of Life Sciences, University of Manchester, Manchester, United Kingdom
Randy Johnson
The University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America
Karen Hirschi, James R. Lupski
Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America
James R. Lupski
Texas Children's Hospital, Houston, Texas, United States of America
Yosuke Funato, Hiroaki Miki
Laboratory of Intracellular Signaling, Institute for Protein Research, Osaka University, Osaka, Japan

Corresponding Authors

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: JR AB DJA MJJ. Performed the experiments: MKB BMW LGW JH DG LPW AM KM MDR PMG LM AJC AP TJH JR. Analyzed the data: MKB BMW LGW BL LPW AM DJA MJJ. Contributed reagents/materials/analysis tools: BL KEH RJ KH YF HM AB DJA MJJ. Wrote the paper: MKB BMW FJP KEH JRL AB DJA MJJ.