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Research Article

Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

  • Marc-Phillip Hitz,

    Affiliations: Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montréal, Québec, Canada, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom

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  • Louis-Philippe Lemieux-Perreault,

    Affiliation: Adult Congenital Heart Centre, Montreal Heart Institute, Université de Montréal, Montréal, Québec, Canada

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  • Christian Marshall,

    Affiliation: The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada

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  • Yassamin Feroz-Zada,

    Affiliation: Adult Congenital Heart Centre, Montreal Heart Institute, Université de Montréal, Montréal, Québec, Canada

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  • Robbie Davies,

    Affiliation: University of Ottawa Heart Institute, Ottawa, Ontario, Canada

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  • Shi Wei Yang,

    Affiliation: Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montréal, Québec, Canada

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  • Anath Christopher Lionel,

    Affiliation: The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada

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  • Guylaine D'Amours,

    Affiliation: Service of Medical Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montréal, Québec, Canada

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  • Emmanuelle Lemyre,

    Affiliation: Service of Medical Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montréal, Québec, Canada

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  • Rebecca Cullum,

    Affiliation: Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, British Columbia, Canada

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  • Jean-Luc Bigras,

    Affiliation: Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montréal, Québec, Canada

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  • Maryse Thibeault,

    Affiliation: Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montréal, Québec, Canada

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  • Philippe Chetaille,

    Affiliation: Cardiology Service, Centre Mère-Enfants, Centre Hospitalier Universitaire de Québec, Université de Laval, Québec City, Québec, Canada

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  • Alexandre Montpetit,

    Affiliation: Genome Quebec Innovation Centre, McGill University, Montréal, Québec, Canada

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  • Paul Khairy,

    Affiliation: Adult Congenital Heart Centre, Montreal Heart Institute, Université de Montréal, Montréal, Québec, Canada

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  • Bert Overduin,

    Affiliation: European Molecular Biology Laboratory–European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom

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  • Sabine Klaassen,

    Affiliation: Experimental and Clinical Research Center, Max-Delbrück-Center for Molecular Medicine, Berlin, Germany

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  • Pamela Hoodless,

    Affiliation: Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, British Columbia, Canada

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  • Mona Nemer,

    Affiliation: Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, Ontario, Canada

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  • Alexandre F. R. Stewart,

    Affiliation: Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, Ontario, Canada

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  • Cornelius Boerkoel,

    Affiliation: Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada

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  • Stephen W. Scherer,

    Affiliation: The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada

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  • Andrea Richter,

    Affiliation: Service of Medical Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montréal, Québec, Canada

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  • Marie-Pierre Dubé,

    Affiliation: Adult Congenital Heart Centre, Montreal Heart Institute, Université de Montréal, Montréal, Québec, Canada

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  • Gregor Andelfinger mail

    gregor.andelfinger@recherche-ste-justine.qc.ca

    Affiliation: Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montréal, Québec, Canada

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  • Published: September 06, 2012
  • DOI: 10.1371/journal.pgen.1002903

About the Authors

Marc-Phillip Hitz, Shi Wei Yang, Jean-Luc Bigras, Maryse Thibeault, Gregor Andelfinger
Cardiovascular Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montréal, Québec, Canada
Marc-Phillip Hitz
Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom
Louis-Philippe Lemieux-Perreault, Yassamin Feroz-Zada, Paul Khairy, Marie-Pierre Dubé
Adult Congenital Heart Centre, Montreal Heart Institute, Université de Montréal, Montréal, Québec, Canada
Christian Marshall, Anath Christopher Lionel, Stephen W. Scherer
The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada
Robbie Davies
University of Ottawa Heart Institute, Ottawa, Ontario, Canada
Guylaine D'Amours, Emmanuelle Lemyre, Andrea Richter
Service of Medical Genetics, Department of Pediatrics, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montréal, Québec, Canada
Rebecca Cullum, Pamela Hoodless
Terry Fox Laboratory, British Columbia Cancer Agency, Vancouver, British Columbia, Canada
Philippe Chetaille
Cardiology Service, Centre Mère-Enfants, Centre Hospitalier Universitaire de Québec, Université de Laval, Québec City, Québec, Canada
Alexandre Montpetit
Genome Quebec Innovation Centre, McGill University, Montréal, Québec, Canada
Bert Overduin
European Molecular Biology Laboratory–European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom
Sabine Klaassen
Experimental and Clinical Research Center, Max-Delbrück-Center for Molecular Medicine, Berlin, Germany
Mona Nemer
Department of Biochemistry, Microbiology, and Immunology, University of Ottawa, Ottawa, Ontario, Canada
Alexandre F. R. Stewart
Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, Ontario, Canada
Cornelius Boerkoel
Child and Family Research Institute, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada

Corresponding Author

Email: gregor.andelfinger@recherche-ste-justine.qc.ca

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: M-PH L-PL-P EL J-LB PC PK AR M-PD GA. Performed the experiments: M-PH L-PL-P CM YF-Z RD SWY ACL GD RC MT AM BO. Analyzed the data: M-PH L-PL-P CM YF-Z RD SWY ACL GD EL RC AM BO PH MN AFRS CB SWS AR M-PD GA. Contributed reagents/materials/analysis tools: RD ACL GD RC MT PC SK PK PH AFRS CB SWS M-PD GA. Wrote the paper: M-PH L-PL-L M-PD GA.