Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy

Jamie M Ellingford MRes

Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK

Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK

Panagiotis I Sergouniotis MD PhD

Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK

Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK

Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK

Emma Jenkins PhD

Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK

Graeme C Black FRCOphth PhD

Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK

Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK