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Vision science
Original research
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

Authors

  • Guillaume Olivier Institute for Neurosciences of Montpellier, University of Montpellier, Montpellier, France Institute for Neurosciences of Montpellier, INSERM U1051, Montpellier, France PubMed articlesGoogle scholar articles
  • Marta Corton Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM)—Center for Biomedical Network Research on Rare Diseases—(CIBERER), Madrid, Spain PubMed articlesGoogle scholar articles
  • Daniela Intartaglia Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, Telethon Institute of Genetics and Medicine, Pozzuoli (NA), and Medical Genetics, Naples, Italy PubMed articlesGoogle scholar articles
  • Sanne K Verbakel Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Panagiotis I Sergouniotis Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, Central Manchester NHS Foundation Trust, Manchester Royal Eye Hospital, Manchester, M13 9WL, UK PubMed articlesGoogle scholar articles
  • Guylène Le Meur Service Ophtalmologie, CHU Nantes, Nantes Université, Nantes, France PubMed articlesGoogle scholar articles
  • Claire-Marie Dhaenens University Lille-Nord de France, INSERM U837, Lille, France Lille Neuroscience & Cognition, LilNCog, Lille, France PubMed articlesGoogle scholar articles
  • Hélène Naacke Service d'ophtalmologie, Clinique Saint Joseph, Angouleme, Nouvelle Aquitaine, France PubMed articlesGoogle scholar articles
  • Almudena Avila-Fernández Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM)—Center for Biomedical Network Research on Rare Diseases—(CIBERER), Madrid, Spain PubMed articlesGoogle scholar articles
  • Carel B Hoyng Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Jeroen Klevering Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Béatrice Bocquet Institute for Neurosciences of Montpellier, University of Montpellier, Montpellier, France Institute for Neurosciences of Montpellier, INSERM U1051, Montpellier, France PubMed articlesGoogle scholar articles
  • Agathe Roubertie Département de Neuropédiatrie, CHU Montpellier, Hôpital Gui de Chauliac, Montpellier, Hérault, France Institute for Neurosciences of Montpellier, INSERM U1051, Montpellier, Hérault, France PubMed articlesGoogle scholar articles
  • Audrey Sénéchal Institute for Neurosciences of Montpellier, University of Montpellier, Montpellier, France Institute for Neurosciences of Montpellier, INSERM U1051, Montpellier, France PubMed articlesGoogle scholar articles
  • Sandro Banfi Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, Telethon Institute of Genetics and Medicine, Naples, Italy PubMed articlesGoogle scholar articles
  • Agnès Muller Institute for Neurosciences of Montpellier, University of Montpellier, Montpellier, France Institute for Neurosciences of Montpellier, INSERM U1051, Montpellier, France PubMed articlesGoogle scholar articles
  • Christian L Hamel Service d'ophtalmologie, Hôpital Gui de Chauliac, CHU Montpellier, Montpellier, France PubMed articlesGoogle scholar articles
  • Graeme C Black Department of Genetic Medicine, University of Manchester, Manchester, UK PubMed articlesGoogle scholar articles
  • Ivan Conte Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, Telethon Institute of Genetics and Medicine, Pozzuoli (NA), and Medical Genetics, Naples, Italy Department of Biology, University of Naples Federico II, Napoli, Campania, Italy PubMed articlesGoogle scholar articles
  • Susanne Roosing Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Xavier Zanlonghi Institut Ophtalmologique de l’Ouest, Eye Clinic Jules Verne, Nantes, France PubMed articlesGoogle scholar articles
  • Carmen Ayuso Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM)—Center for Biomedical Network Research on Rare Diseases—(CIBERER), Madrid, Spain Department of Genetics & Genomics, Centro de Investigacion Biomedica en Red (CIBER) de Enfermedades Raras, ISCIII, Madrid, Spain PubMed articlesGoogle scholar articles
  • Isabelle Meunier Institute for Neurosciences of Montpellier, University of Montpellier, Montpellier, France National Centre in Rare Diseases, Genetics of Sensory Diseases, CHU Montpellier, Montpellier, Languedoc-Roussillon, France PubMed articlesGoogle scholar articles
  • Gaël Manes Institute for Neurosciences of Montpellier, University of Montpellier, Montpellier, France Institute for Neurosciences of Montpellier, INSERM U1051, Montpellier, France PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Gaël Manes, University of Montpellier, Montpellier 34000, France; gael.manes{at}inserm.fr
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Citation

Olivier G, Corton M, Intartaglia D, et al
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
Journal of Medical Genetics 2021;58:570-578.

Publication history

  • Received April 28, 2020
  • Revised June 9, 2020
  • Accepted June 24, 2020
  • First published August 17, 2020.
Online issue publication 
January 09, 2022

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© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.