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Research Article

Contribution of Rare Copy Number Variants to Isolated Human Malformations

  • Clara Serra-Juhé,

    Affiliations: Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain

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  • Benjamín Rodríguez-Santiago,

    Affiliation: Quantitative Genomic Medicine Laboratories (qGenomics), Barcelona, Spain

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  • Ivon Cuscó,

    Affiliations: Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain

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  • Teresa Vendrell,

    Affiliation: Programa de Medicina Molecular i Genètica, Hospital Universitari Vall d'Hebron, Barcelona, Spain

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  • Núria Camats,

    Affiliation: Servei d'Anatomia Patològica, Hospital Universitari Vall d'Hebron, Barcelona, Spain

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  • Núria Torán,

    Affiliation: Servei d'Anatomia Patològica, Hospital Universitari Vall d'Hebron, Barcelona, Spain

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  • Luis A. Pérez-Jurado mail

    luis.perez@upf.edu

    Affiliations: Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain

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  • Published: October 03, 2012
  • DOI: 10.1371/journal.pone.0045530

About the Authors

Clara Serra-Juhé, Ivon Cuscó, Luis A. Pérez-Jurado
Unitat de Genètica, Universitat Pompeu Fabra, Barcelona, Spain
Clara Serra-Juhé, Ivon Cuscó, Luis A. Pérez-Jurado
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain
Benjamín Rodríguez-Santiago
Quantitative Genomic Medicine Laboratories (qGenomics), Barcelona, Spain
Teresa Vendrell
Programa de Medicina Molecular i Genètica, Hospital Universitari Vall d'Hebron, Barcelona, Spain
Núria Camats, Núria Torán
Servei d'Anatomia Patològica, Hospital Universitari Vall d'Hebron, Barcelona, Spain

Corresponding Author

Email: luis.perez@upf.edu

Competing Interests

Benjamín Rodríguez-Santiago and Luis A. Pérez-Jurado are currently employee and scientific advisor, respectively, of qGenomics SL. This does not alter the authors' adherence to all the PLOS ONE policies on sharing data and materials.

Author Contributions

Conceived and designed the experiments: CS-J TV LAP-J. Performed the experiments: CS-J. Analyzed the data: CS-J BR-S IC LAP-J. Contributed reagents/materials/analysis tools: BR-S NT NC. Wrote the paper: CS-J LAP-J. Selection of the samples: CS-J TV NC NT LAP-J. Revising the article critically for important intellectual content: CS-J BR-S IC TV NC NT LAP-J. Final approval of the version to be submitted: CS-J BR-S IC TV NC NT LAP-J.