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Research Article

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

  • Guénola Ricard equal contributor,

    equal contributor Contributed equally to this work with: Guénola Ricard, Jessica Molina

    Affiliation: Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland

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  • Jessica Molina equal contributor,

    equal contributor Contributed equally to this work with: Guénola Ricard, Jessica Molina

    Affiliation: Centro de Estudios Científicos (CECS), Valdivia, Chile

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  • Jacqueline Chrast,

    Affiliation: Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland

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  • Wenli Gu,

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

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  • Nele Gheldof,

    Affiliation: Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland

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  • Sylvain Pradervand,

    Affiliations: Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland, Swiss Institute of Bioinformatics (SIB), Lausanne, Switzerland

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  • Frédéric Schütz,

    Affiliations: Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland, Swiss Institute of Bioinformatics (SIB), Lausanne, Switzerland

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  • Juan I. Young,

    Affiliations: Centro de Estudios Científicos (CECS), Valdivia, Chile, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America, CIN (Centro de Ingeniería de la Innovación del CECS), Valdivia, Chile

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  • James R. Lupski,

    Affiliations: Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America, 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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  • Alexandre Reymond mail,

    Alexandre.Reymond@unil.ch (AR); kwalz@med.miami.edu (KW)

    Affiliation: Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland

    The two laboratories of AR and KW contributed equally to this work

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  • Katherina Walz mail

    Alexandre.Reymond@unil.ch (AR); kwalz@med.miami.edu (KW)

    Affiliations: Centro de Estudios Científicos (CECS), Valdivia, Chile, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America

    The two laboratories of AR and KW contributed equally to this work

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  • Published: November 23, 2010
  • DOI: 10.1371/journal.pbio.1000543

About the Authors

Guénola Ricard, Jacqueline Chrast, Nele Gheldof, Sylvain Pradervand, Frédéric Schütz, Alexandre Reymond
Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland
Jessica Molina, Juan I. Young, Katherina Walz
Centro de Estudios Científicos (CECS), Valdivia, Chile
Wenli Gu, James R. Lupski
Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America
Sylvain Pradervand, Frédéric Schütz
Swiss Institute of Bioinformatics (SIB), Lausanne, Switzerland
Juan I. Young, Katherina Walz
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, United States of America
Juan I. Young
CIN (Centro de Ingeniería de la Innovación del CECS), Valdivia, Chile
James R. Lupski
Pediatrics, Baylor College of Medicine, Houston, Texas, United States of America
James R. Lupski
Texas Children's Hospital, Houston, Texas, United States of America

Corresponding Authors

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

The author(s) have made the following declarations about their contributions: Conceived and designed the experiments: AR KW. Performed the experiments: GR JM JC JIY. Analyzed the data: GR JM NG SP FS. Contributed reagents/materials/analysis tools: WG JRL. Wrote the paper: JRL AR KW.