Author information:
(1)Cambridge Institute for Medical Research, University of Cambridge, Cambridge 
CB2 0XY, UK; Department of Medical Genetics, University of Cambridge, Cambridge 
CB2 0QQ, UK.
(2)Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 
Rome 00161, Italy.
(3)Department of Haematology, NHS Blood and Transplant Centre, University of 
Cambridge, Cambridge CB2 0XY, UK; NIHR BioResource, Cambridge University 
Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, 
UK.
(4)Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, 
UK; European Molecular Biology Laboratory - European Bioinformatics Institute 
(EMBL-EBI), Wellcome Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.
(5)Microscopy Area, Core Facilities, Istituto Superiore di Sanità, Rome 00161, 
Italy.
(6)Department of Medical Genetics, University of Cambridge, Cambridge CB2 0QQ, 
UK.
(7)Cambridge Institute for Medical Research, University of Cambridge, Cambridge 
CB2 0XY, UK; Department of Pathology, University of Cambridge, Cambridge CB2 
1QP, UK.
(8)Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 
Rome 00161, Italy; Genetics and Rare Diseases Research Division, Ospedale 
Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy.
(9)Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino 
Gesù, IRCCS, Rome 00146, Italy.
(10)Genomics England, London, UK.
(11)Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome 00168, Italy.
(12)Fondazione Policlinico Universitario A. Gemelli-IRCCS, Rome 00168, Italy; 
Università Cattolica del Sacro Cuore, Rome 00168, Italy.
(13)Unit of Mechanisms, Biomarkers and Models, Department of Environment and 
Health, Istituto Superiore di Sanità, Rome 00161, Italy.
(14)Department of Clinical Genetics, Great Ormond Street Hospital, London WC1N 
3JH, UK.
(15)Department of Paediatric Neurology, Cambridge University Hospitals NHS 
Foundation Trust, Cambridge CB2 0QQ, UK.
(16)Department of Clinical Genetics, Liverpool Women's Hospital, Liverpool L8 
7SS, UK.
(17)Department of Medical Genetics, Guys' and St Thomas' NHS Foundation Trust, 
London SE1 9RT, UK.
(18)Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, 
Birmingham B15 2TG, UK.
(19)Phoenix Children's Hospital, Phoenix, AZ 76109, USA.
(20)Cook Children's Medical Centre, Fort Worth, TX 76104, USA.
(21)Colchester Hospital, East Suffolk and North Essex NHS Foundation Trust, 
Essex CO4 5JL, UK.
(22)Ophthalmology Department, Cambridge University Hospitals NHS Foundation 
Trust, Cambridge CB2 0QQ, UK.
(23)Department of Neuroscience and Brain Technologies, Istituto Italiano di 
Tecnologia, Genova 16163, Italy; Area of Neuroscience, SISSA, Trieste 34136, 
Italy.
(24)Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino 
Gesù, IRCCS, Rome 00146, Italy. Electronic address: marco.tartaglia@opbg.net.
(25)Cambridge Institute for Medical Research, University of Cambridge, Cambridge 
CB2 0XY, UK; Department of Medical Genetics, University of Cambridge, Cambridge 
CB2 0QQ, UK. Electronic address: ealr4@cam.ac.uk.