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Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype

  • Isabelle Perrault,

    Affiliation Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France

  • Alejandro Estrada-Cuzcano,

    Affiliation Department of Human genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

  • Irma Lopez,

    Affiliation McGill Ocular Genetics Laboratory, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada

  • Susanne Kohl,

    Affiliation University Eye Hospital, Institute for Ophthalmic Research, Tübingen University, Tübingen, Germany

  • Shiqiang Li,

    Affiliation State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yatsen University, Guangzhou, China

  • Francesco Testa,

    Affiliation Department of Ophthalmology, Second University of Naples, Naples, Italy

  • Renate Zekveld-Vroon,

    Affiliation The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, The Netherlands

  • Xia Wang,

    Affiliation Department of Molecular and Human Genetics, Baylor College of Medecine, Houston, Texas, United States of America

  • Esther Pomares,

    Affiliation Faculty of Biology, Department of Genetics, University of Barcelona, Barcelona, Spain

  • Jean Andorf,

    Affiliation Department of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medecine, Iowa City, Iowa, United States of America

  • Nisrine Aboussair,

    Affiliation Service de Génétique CHU Mohammed VI, Faculté de Médecine et de Pharmacie, Université Caddi Ayyed, Marrakech, Morocco

  • Sandro Banfi,

    Affiliations Telethon Institute of Genetics and Medecine (TIGEM), Naples, Italy, Medical Genetics, Department of General Pathology, Second University of Naples, Naples, Italy

  • Nathalie Delphin,

    Affiliation Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France

  • Anneke I. den Hollander,

    Affiliations Department of Human genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

  • Catherine Edelson,

    Affiliation Ophtalmo-pédiatrie, Fondation Rothschild, Paris, France

  • Ralph Florijn,

    Affiliation The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, The Netherlands

  • Marc Jean-Pierre,

    Affiliation Institut Cochin, Université Paris Descartes, Paris, France

  • Corinne Leowski,

    Affiliation Institut National des Jeunes Aveugles, Paris, France

  • Andre Megarbane,

    Affiliation Service de Génétique Médicale, Université Saint Joseph, Beyrouth, Lebanon

  • Cristina Villanueva,

    Affiliation Servicio de Génética, Asociacion Para Evitar La Ceguera en Mexico, Mexico City, Mexico

  • Blanca Flores,

    Affiliation Servicio de Génética, Asociacion Para Evitar La Ceguera en Mexico, Mexico City, Mexico

  • Arnold Munnich,

    Affiliation Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France

  • Huanan Ren,

    Affiliation McGill Ocular Genetics Laboratory, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada

  • Ditta Zobor,

    Affiliation University Eye Hospital, Institute for Ophthalmic Research, Tübingen University, Tübingen, Germany

  • Arthur Bergen,

    Affiliation The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, The Netherlands

  • Rui Chen,

    Affiliation Department of Molecular and Human Genetics, Baylor College of Medecine, Houston, Texas, United States of America

  • Frans P. M. Cremers,

    Affiliation Department of Human genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

  • Roser Gonzalez-Duarte,

    Affiliation Faculty of Biology, Department of Genetics, University of Barcelona, Barcelona, Spain

  • Robert K. Koenekoop,

    Affiliation McGill Ocular Genetics Laboratory, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada

  • Francesca Simonelli,

    Affiliation Department of Ophthalmology, Second University of Naples, Naples, Italy

  • Edwin Stone,

    Affiliation Department of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medecine, Iowa City, Iowa, United States of America

  • Bernd Wissinger,

    Affiliation University Eye Hospital, Institute for Ophthalmic Research, Tübingen University, Tübingen, Germany

  • Qingjiong Zhang,

    Affiliation State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yatsen University, Guangzhou, China

  • Josseline Kaplan,

    Affiliation Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France

  •  [ ... ],
  • Jean-Michel Rozet

    jean-michel.rozet@inserm.fr

    Affiliation Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France

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