About the Authors
- Morad Ansari
-
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
- Jacqueline Rainger
-
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
- Isabel M. Hanson
-
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
- Kathleen A. Williamson
-
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
- Freddie Sharkey
-
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
- Louise Harewood
-
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
- Angela Sandilands
-
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
- Jill Clayton-Smith
-
Affiliation Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, United Kingdom
- Helene Dollfus
-
Affiliation Service de Génétique Médicale, Hôpital de Haute-Pierre, Strasbourg, France
- Pierre Bitoun
-
Affiliation Medical Genetics Departments, University Hospital Jean Verdier, Bondy, France
- Francoise Meire
-
Affiliation Department of ophthalmopediatrics, Hôpital Universitaire des Enfants Reine Fabiola, Bruxelles, Belgium
- Judy Fantes
-
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
- Brunella Franco
-
Affiliations Medical Genetics, Department of Medical Translational Sciences, Federico II University, Naples, Italy, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy
- Birgit Lorenz
-
Affiliation Department of Ophthalmology, Justus-Liebig-University Giessen, Universitaetsklinikum Giessen and Marburg UKGM, Giessen, Germany
- David S. Taylor
-
Affiliation Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom
- Fiona Stewart
-
Affiliation Northern Ireland Regional Genetics Service (NIRGS), Belfast City Hospital, Belfast, United Kingdom
- Colin E. Willoughby
-
Affiliation Department of Eye and Vision Science, Institute of Ageing and Chronic Disease, University of Liverpool, Liverpool, United Kingdom
- Meriel McEntagart
-
Affiliation Medical Genetics Unit, St George's University of London, London, United Kingdom
- Peng Tee Khaw
-
Affiliation Moorfields Eye Hospital, London, UK and University College London, Institute of Ophthalmology, London, United Kingdom
- Carol Clericuzio
-
Affiliation Department of Pediatric Genetics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, United States of America
- Lionel Van Maldergem
-
Affiliation Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France
- Denise Williams
-
Affiliation Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham, United Kingdom
- Ruth Newbury-Ecob
-
Affiliation Department of Clinical Genetics, University Hospitals, Bristol, United Kingdom
- Elias I. Traboulsi
-
Affiliation Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, United States of America
- Eduardo D. Silva
-
Affiliation Department Ophthalmology, University Hospital of Coimbra, Coimbra, Portugal
- Mukhlis M. Madlom
-
Affiliation Children's Hospital, Doncaster Royal Infirmary, Doncaster, United Kingdom
- David R. Goudie
-
Affiliation Human Genetics Unit, University of Dundee College of Medicine, Dentistry and Nursing, Ninewells Hospital, Dundee, United Kingdom
- Brian W. Fleck
-
Affiliation Department of Ophthalmology, Princess Alexandra Eye Pavilion, Chalmers Street, Edinburgh, United Kingdom
- Dagmar Wieczorek
-
Affiliations Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany, Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany
- Juergen Kohlhase
-
Affiliation Center for Human Genetics, Freiburg, Germany
- Alice D. McTrusty
-
Affiliation Department of Life Sciences, Glasgow Caledonian University, Glasgow, United Kingdom
- Carol Gardiner
-
Affiliation Clinical Genetics, Southern General Hospital, Glasgow, United Kingdom
- Christopher Yale
-
Affiliation Department of Paediatrics and Child Health, Ipswich Hospital, Ipswich, United Kingdom
- Anthony T. Moore
-
Affiliation Moorfields Eye Hospital, London, UK and University College London, Institute of Ophthalmology, London, United Kingdom
- Isabelle Russell-Eggitt
-
Affiliation Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom
- Lily Islam
-
Affiliation Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom
- Melissa Lees
-
Affiliation North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street Hospital, London, United Kingdom
- Philip L. Beales
-
Affiliation Institute of Child Health, University College London, UK and Great Ormond Street Hospital for Children, London, United Kingdom
- Stephen J. Tuft
-
Affiliation Moorfields Eye Hospital, London, UK and University College London, Institute of Ophthalmology, London, United Kingdom
- Juan B. Solano
-
Affiliation Ruber International Hospital, Medical Genetics Unit, Mirasierra, Madrid, Spain
- Miranda Splitt
-
Affiliation Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne, United Kingdom
- Jens Michael Hertz
-
Affiliation Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark
- Trine E. Prescott
-
Affiliation Department of Medical Genetics, Oslo University Hospital, Oslo, Norway
- Deborah J. Shears
-
Affiliation Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, United Kingdom
- Ken K. Nischal
-
Affiliation UPMC Eye Center, Children's Hospital of Pittsburgh of UPMC, School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, United States of America
- Martine Doco-Fenzy
-
Affiliation Service de génétique, HMB CHU Reims, SFR Cap Sante. EA 3801, France
- Fabienne Prieur
-
Affiliation CHU de Saint Etienne, Service de génétique médicale, Saint-Etienne, France
- I. Karen Temple
-
Affiliation Academic Unit of Genetic Medicine, Division of Human Genetics, University of Southampton, Southampton, United Kingdom
- Katherine L. Lachlan
-
Affiliation Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom
- Giuseppe Damante
-
Affiliation Department of Medical and Biological Sciences, University of Udine, Udine, Italy
- Danny A. Morrison
-
Affiliation St. Thomas’ Hospital, Westminster Bridge Road, London, United Kingdom
- Veronica van Heyningen
-
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
- David R. FitzPatrick
-
* E-mail: david.fitzpatrick@igmm.ed.ac.uk
Affiliation MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
Competing Interests
The authors have declared that no competing interests exist.
Author Contributions
Conceived and designed the experiments: DRF VvH. Performed the experiments: MA JR IMH KAW F. Sharkey LH JF. Analyzed the data: MA JR IMH KAW F. Sharkey LH JF. Contributed reagents/materials/analysis tools: AS JCS HD PB FM BF BL DST F. Stewart CEW MME PTK CC LVM DW RNE EIT EDS MMM DRG BWF DW JK ADM CG CY ATM IRE LI ML PLB SJT JBS MS JMH TEP DJS KKN MDF FP IKT KLL GD DAM. Wrote the paper: DRF VvH MA JR IMH F. Sharkey AS PB.