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Open Access
Peer-reviewed
Research Article
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH
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Fiona Blanco-Kelly ,
Contributed equally to this work with: Fiona Blanco-Kelly, María Palomares
Affiliations Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain, Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain
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María Palomares ,
Contributed equally to this work with: Fiona Blanco-Kelly, María Palomares
Affiliations Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain, Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain
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Elena Vallespín,
Affiliations Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain, Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain
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Cristina Villaverde,
Affiliations Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain, Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain
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Rubén Martín-Arenas,
Affiliations Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain, Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain
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Camilo Vélez-Monsalve,
Affiliations Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain, Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain
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Isabel Lorda-Sánchez,
Affiliations Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain, Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain
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Julián Nevado,
Affiliations Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain, Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain
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María José Trujillo-Tiebas,
Affiliations Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain, Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain
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Pablo Lapunzina,
Affiliations Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain, Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain
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Carmen Ayuso ,
* E-mail: cayuso@fjd.es (CA); mcorton@fjd.es (MC)
¶‡ These authors are joint senior authors on this work.
Affiliations Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain, Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain
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Marta Corton
* E-mail: cayuso@fjd.es (CA); mcorton@fjd.es (MC)
¶‡ These authors are joint senior authors on this work.
Affiliations Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain, Centre for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain
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Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH
- Fiona Blanco-Kelly,
- María Palomares,
- Elena Vallespín,
- Cristina Villaverde,
- Rubén Martín-Arenas,
- Camilo Vélez-Monsalve,
- Isabel Lorda-Sánchez,
- Julián Nevado,
- María José Trujillo-Tiebas,
- Pablo Lapunzina
- Published: February 23, 2017
- https://doi.org/10.1371/journal.pone.0172363