About the Authors

Sally H. Cross

sally.cross@igmm.ed.ac.uk

Affiliation MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh, United Kingdom

Danilo G. Macalinao

Affiliation The Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, United States of America

Lisa McKie

Affiliation MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh, United Kingdom

Lorraine Rose

Affiliation Centre for Genomic and Experimental Medicine, IGMM, Edinburgh, United Kingdom

Alison L. Kearney

Affiliation The Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, United States of America

Joe Rainger

Affiliation MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh, United Kingdom

Caroline Thaung

Affiliation UCL Institute of Ophthalmology, London, United Kingdom

Margaret Keighren

Affiliation MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh, United Kingdom

Shalini Jadeja

Affiliation MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh, United Kingdom

Katrine West

Affiliation MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh, United Kingdom

Stephen C. Kneeland

Affiliation The Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, United States of America

Richard S. Smith

Affiliation The Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, United States of America

Gareth R. Howell

Affiliation The Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, United States of America

Fiona Young

Affiliation Electron Microscopy, Pathology, Western General Hospital, Edinburgh, United Kingdom

Morag Robertson

Affiliation MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh, United Kingdom

Rob van t' Hof

Affiliation Centre for Genomic and Experimental Medicine, IGMM, Edinburgh, United Kingdom

Simon W. M. John

Affiliation The Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, United States of America

Ian J. Jackson

Affiliations MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh, United Kingdom, The Roslin Institute, University of Edinburgh, Easter Bush, United Kingdom

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: SHC SWMJ IJJ. Performed the experiments: SHC DGM LM LR ALK JR CT MK SJ KW SCK FY MR RvH. Analyzed the data: SHC DGM ALK SCK RSS GRH SWMJ IJJ RvH. Wrote the paper: SHC SWMJ IJJ.