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Original research
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

Authors

  • Zeinab Fadaie Department of Human Genetics, Radboudumc, Nijmegen, The NetherlandsDonders Institute for Brain Cognition and Behaviour, RadboudUMC, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Laura Whelan School of Genetics & Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland PubMed articlesGoogle scholar articles
  • Adrian Dockery School of Genetics & Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland PubMed articlesGoogle scholar articles
  • Catherina H Z Li Donders Institute for Brain Cognition and Behaviour, RadboudUMC, Nijmegen, The NetherlandsDepartment of Ophthalmology, Radboudumc, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • L Ingeborgh van den Born Eye Hospital Rotterdam, Rotterdam Ophthalmic Institute, Rotterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Carel B Hoyng Donders Institute for Brain Cognition and Behaviour, RadboudUMC, Nijmegen, The NetherlandsDepartment of Ophthalmology, Radboudumc, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Christian Gilissen Department of Human Genetics, Radboudumc, Nijmegen, The NetherlandsRadboud Institute of Molecular Life Sciences, RadboudUMC, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Jordi Corominas Department of Human Genetics, Radboudumc, Nijmegen, The NetherlandsRadboud Institute of Molecular Life Sciences, RadboudUMC, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Charlie Rowlands North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary’s Hospital, Manchester, UKDivision of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, The University of Manchester Faculty of Biology Medicine and Health, Manchester, UK PubMed articlesGoogle scholar articles
  • Roly Megaw MRC Human Genetics Unit, University of Edinburgh Western General Hospital, Edinburgh, UKPrincess Alexandra Eye Pavilion, Department of Ophthalmology, University of Edinburgh Western General Hospital, Edinburgh, UK PubMed articlesGoogle scholar articles
  • Anne K Lampe South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, UK PubMed articlesGoogle scholar articles
  • Frans P M Cremers Department of Human Genetics, Radboudumc, Nijmegen, The NetherlandsDonders Institute for Brain Cognition and Behaviour, RadboudUMC, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  • Gwyneth Jane Farrar School of Genetics & Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland PubMed articlesGoogle scholar articles
  • Jamie M Ellingford North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, St Mary’s Hospital, Manchester, UKDivision of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, The University of Manchester Faculty of Biology Medicine and Health, Manchester, UK PubMed articlesGoogle scholar articles
  • Paul F. Kenna School of Genetics & Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, IrelandResearch Foundation, Royal Victoria Eye and Ear Hospital, Dublin, Ireland PubMed articlesGoogle scholar articles
  • Susanne Roosing Department of Human Genetics, Radboudumc, Nijmegen, The NetherlandsDonders Institute for Brain Cognition and Behaviour, RadboudUMC, Nijmegen, The Netherlands PubMed articlesGoogle scholar articles
  1. Correspondence to Susanne Roosing, Department of Human Genetics, Radboudumc, Nijmegen 6525 GA, The Netherlands; Susanne.Roosing{at}radboudumc.nl
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Citation

Fadaie Z, Whelan L, Dockery A, et al
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

Publication history

  • Received December 1, 2020
  • Revised February 11, 2021
  • Accepted February 26, 2021
  • First published April 28, 2021.

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