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Research Article

Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

  • Danilo Licastro,

    Affiliation: Cluster in Biomedicine (CBM) scrl - Genomics, Area Science Park, Basovizza, Trieste, Italy

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  • Margherita Mutarelli,

    Affiliation: Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy

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  • Ivana Peluso,

    Affiliation: Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy

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  • Kornelia Neveling,

    Affiliation: Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

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  • Nienke Wieskamp,

    Affiliation: Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

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  • Rossella Rispoli,

    Affiliation: Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy

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  • Diego Vozzi,

    Affiliation: Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”,Trieste, Italy

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  • Emmanouil Athanasakis,

    Affiliation: Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”,Trieste, Italy

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  • Angela D'Eustacchio,

    Affiliation: Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”,Trieste, Italy

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  • Mariateresa Pizzo,

    Affiliation: Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy

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  • Francesca D'Amico,

    Affiliation: Dipartimento di Patologia Generale, Seconda Università degli Studi di Napoli, Napoli, Italy

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  • Carmela Ziviello,

    Affiliation: Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy

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  • Francesca Simonelli,

    Affiliation: Dipartimento di Oftalmologia, Seconda Università degli Studi di Napoli, Napoli, Italy

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  • Antonella Fabretto,

    Affiliation: Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”,Trieste, Italy

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  • Hans Scheffer,

    Affiliation: Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

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  • Paolo Gasparini mail,

    gasparini@burlo.trieste.it (PG); banfi@tigem.it (SB); vincenzo.nigro@unina2.it (VN)

    Affiliation: Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”,Trieste, Italy

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  • Sandro Banfi mail,

    gasparini@burlo.trieste.it (PG); banfi@tigem.it (SB); vincenzo.nigro@unina2.it (VN)

    Affiliations: Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy, Dipartimento di Patologia Generale, Seconda Università degli Studi di Napoli, Napoli, Italy

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  • Vincenzo Nigro mail

    gasparini@burlo.trieste.it (PG); banfi@tigem.it (SB); vincenzo.nigro@unina2.it (VN)

    Affiliations: Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy, Dipartimento di Patologia Generale, Seconda Università degli Studi di Napoli, Napoli, Italy

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  • Published: August 29, 2012
  • DOI: 10.1371/journal.pone.0043799

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