Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

• Berta Almoguera ,

  Contributed equally to this work with: Berta Almoguera, Jiankang Li, Hakon Hakonarson, Carmen Ayuso

  Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America

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• Jiankang Li ,

  Contributed equally to this work with: Berta Almoguera, Jiankang Li, Hakon Hakonarson, Carmen Ayuso

  Affiliation BGI-Shenzhen, Shenzhen 518083, China

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• Patricia Fernandez-San Jose,

  Affiliations Department of Genetics and Genomics, IIS-Fundacion Jimenez Diaz, 28040, Madrid, Spain, Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

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• Yichuan Liu,

  Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America

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• Michael March,

  Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America

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• Renata Pellegrino,

  Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America

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• Ryan Golhar,

  Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America

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• Marta Corton,

  Affiliations Department of Genetics and Genomics, IIS-Fundacion Jimenez Diaz, 28040, Madrid, Spain, Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

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• Fiona Blanco-Kelly,

  Affiliations Department of Genetics and Genomics, IIS-Fundacion Jimenez Diaz, 28040, Madrid, Spain, Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

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• Maria Isabel López-Molina,

  Affiliations Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain, Department of Ophthalmology, Fundacion Jimenez Diaz, 28040, Madrid, Spain

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• Blanca García-Sandoval,

  Affiliations Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain, Department of Ophthalmology, Fundacion Jimenez Diaz, 28040, Madrid, Spain

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• Yiran Guo,

  Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America

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• Lifeng Tian,

  Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America

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• Xuanzhu Liu,

  Affiliation BGI-Shenzhen, Shenzhen 518083, China

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• Liping Guan,

  Affiliation BGI-Shenzhen, Shenzhen 518083, China

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• Jianguo Zhang,

  Affiliation BGI-Shenzhen, Shenzhen 518083, China

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• Brendan Keating,

  Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America

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• Xun Xu,

  Affiliation BGI-Shenzhen, Shenzhen 518083, China

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• Hakon Hakonarson ,

  Contributed equally to this work with: Berta Almoguera, Jiankang Li, Hakon Hakonarson, Carmen Ayuso

  Affiliation Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States of America

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•  [ ... ],
• Carmen Ayuso

  Contributed equally to this work with: Berta Almoguera, Jiankang Li, Hakon Hakonarson, Carmen Ayuso

  * E-mail: cayuso@fjd.es

  Affiliations Department of Genetics and Genomics, IIS-Fundacion Jimenez Diaz, 28040, Madrid, Spain, Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain

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