New Results
New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease
View ORCID ProfileJames A. Poulter, View ORCID ProfileMolly S. C. Gravett, View ORCID ProfileRachel L. Taylor, View ORCID ProfileKaoru Fujinami, Julie De Zaeytijd, View ORCID ProfileJames Bellingham, View ORCID ProfileAtta Ur Rehman, View ORCID ProfileTakaaki Hayashi, View ORCID ProfileMineo Kondo, Abdur Rehman, Muhammad Ansar, Dan Donnelly, View ORCID ProfileCarmel Toomes, View ORCID ProfileManir Ali, UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, View ORCID ProfileElfride De Baere, View ORCID ProfileBart P. Leroy, Nigel P. Davies, View ORCID ProfileRobert H. Henderson, View ORCID ProfileAndrew R. Webster, View ORCID ProfileCarlo Rivolta, View ORCID ProfileOmar A. Mahroo, View ORCID ProfileGavin Arno, View ORCID ProfileGraeme C. Black, View ORCID ProfileMartin McKibbin, View ORCID ProfileSarah A. Harris, View ORCID ProfileKamron N. Khan, View ORCID ProfileChris F. Inglehearn
doi: https://doi.org/10.1101/2020.02.20.936880
James A. Poulter
1Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK
Molly S. C. Gravett
2School of Molecular and Cellular Biology, University of Leeds, UK
Rachel L. Taylor
3Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK
Kaoru Fujinami
4National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Centre, Tokyo, Japan
5Moorfields Eye Hospital, London, UK
6UCL Institute of Ophthalmology, London, UK
7Keio University School of Medicine, Tokyo, Japan
Julie De Zaeytijd
8Ghent University, Ghent, Belgium
James Bellingham
6UCL Institute of Ophthalmology, London, UK
Atta Ur Rehman
9Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV) University of Lausanne, Switzerland
Takaaki Hayashi
10The Jikei University School of Medicine, Tokyo, Japan
Mineo Kondo
11Mie University Graduate School of Medicine, Mie, Japan
Abdur Rehman
12Department of Genetics, Faculty of Science, Hazara University Mansehra, Pakistan
Muhammad Ansar
13Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland
Dan Donnelly
14School of Biology, University of Leeds, UK
Carmel Toomes
1Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK
Manir Ali
1Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK
Elfride De Baere
8Ghent University, Ghent, Belgium
Bart P. Leroy
8Ghent University, Ghent, Belgium
15Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Nigel P. Davies
16St Thomas’s Hospital, London, UK
Robert H. Henderson
17Department of Ophthalmology, Great Ormond Street Hospital, London, UK
Andrew R. Webster
5Moorfields Eye Hospital, London, UK
6UCL Institute of Ophthalmology, London, UK
Carlo Rivolta
18Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom
19Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland
20Department of Ophthalmology, University Hospital Basel, Switzerland
Omar A. Mahroo
5Moorfields Eye Hospital, London, UK
6UCL Institute of Ophthalmology, London, UK
Gavin Arno
4National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Centre, Tokyo, Japan
5Moorfields Eye Hospital, London, UK
6UCL Institute of Ophthalmology, London, UK
Graeme C. Black
3Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK
21Manchester Centre for Genomic Medicine, Saint Mary’s Hospital, Manchester University NHS Foundation Trust, Manchester, UK
Martin McKibbin
1Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK
22Leeds Teaching Hospitals NHS Trust, St James’ University Hospital, Leeds, UK
Sarah A. Harris
23School of Physics, University of Leeds, UK
Kamron N. Khan
1Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK
22Leeds Teaching Hospitals NHS Trust, St James’ University Hospital, Leeds, UK
Chris F. Inglehearn
1Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK
Posted March 25, 2020.
New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease
James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor, Kaoru Fujinami, Julie De Zaeytijd, James Bellingham, Atta Ur Rehman, Takaaki Hayashi, Mineo Kondo, Abdur Rehman, Muhammad Ansar, Dan Donnelly, Carmel Toomes, Manir Ali, UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, Elfride De Baere, Bart P. Leroy, Nigel P. Davies, Robert H. Henderson, Andrew R. Webster, Carlo Rivolta, Omar A. Mahroo, Gavin Arno, Graeme C. Black, Martin McKibbin, Sarah A. Harris, Kamron N. Khan, Chris F. Inglehearn
bioRxiv 2020.02.20.936880; doi: https://doi.org/10.1101/2020.02.20.936880
New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease
James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor, Kaoru Fujinami, Julie De Zaeytijd, James Bellingham, Atta Ur Rehman, Takaaki Hayashi, Mineo Kondo, Abdur Rehman, Muhammad Ansar, Dan Donnelly, Carmel Toomes, Manir Ali, UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, Elfride De Baere, Bart P. Leroy, Nigel P. Davies, Robert H. Henderson, Andrew R. Webster, Carlo Rivolta, Omar A. Mahroo, Gavin Arno, Graeme C. Black, Martin McKibbin, Sarah A. Harris, Kamron N. Khan, Chris F. Inglehearn
bioRxiv 2020.02.20.936880; doi: https://doi.org/10.1101/2020.02.20.936880
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