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Paper Details

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
288
2021
Human, Rare, cancer, coding variants, disease genes, genome, hearing disorders, intellectual disability, mitochondrial genome variants, participants, patients, rare, rare diseases, structural, virtual gene, vision disorders
Adolescent, Adult, Child, Child, Preschool, Family Characteristics, Female, Genetic Variation, Genome, Human, Humans, Male, Middle Aged, Pilot Projects, Polymerase Chain Reaction, Rare Diseases, Sensitivity and Specificity, State Medicine, United Kingdom, Whole Genome Sequencing, Young Adult
Author NameAffiliation
Damian Smedleythe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Katherine R Smiththe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Antonio Rueda Martinthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Ellen A Thomasthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Ellen M McDonaghthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Valentina Ciprianithe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Jamie M Ellingfordthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Gavin Arnothe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Arianna Tuccithe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Jana Vandrovcovathe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Georgia Chanthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Hywel J Williamsthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Thiloka Ratnaikethe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Wei Weithe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Kathleen Stirrupsthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Kathleen Stirrupsthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Kristina Iba??ezthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Loukas Moutsianasthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Matthias Wielscherthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Anna C Needthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Michael R Barnesthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Letizia Vestitothe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
James Buchananthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Sarah Wordsworththe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Sofie Ashfordthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Karola Rehmstr??mthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Emily H Lithe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Gavin Fullerthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Philip Twissthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Olivera Spasic-Boskovicthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Rodrigo Andres Flotothe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
William Kenneth Poolethe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Annette Wagnerthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Sarju G Mehtathe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Mark Gurnellthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Nigel Burrowsthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Roger Jamesthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Christopher J Penkettthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Eleanor Dewhurstthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Stefan Gr??fthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Rutendo Mapetathe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Mary Kasanickithe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Andrea Haworththe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Helen Savagethe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Melanie Babcockthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Martin G Reesethe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Mark Balethe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Emma L Baplethe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Christopher Boustredthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
Helen Brittainthe William Harvey Research Institute, Queen Mary University of London (D.S., University College London (UCL) Institute of Ophthalmology (V.C., UCL Genetics Institute (V.C., National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), and Institute of Cardiovascular Science (P.E.), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., the National Hospital for Neurology and Neurosurgery (J.V., Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., the Clinical Genetics Department (M.R., M.I.) and St. John's Institute of Dermatology (H.F., Guy's and St. Thomas' NHS Foundation Trust, Institute of Cancer Research (C. Turnbull), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, University of Manchester (J.M.E., St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Institute of Medical Genetics, Cardiff University, the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., the School of Clinical Medicine (K.R., University of Cambridge, Cambridge University Hospitals (K.S., and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), and Wellcome Sanger Institute (W.H.O.), the Health Economics Research Centre (J. Buchanan, University of Oxford, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, the MRC Weatherall Institute of Molecular Medicine (N.K., John Radcliffe Hospital, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., Royal Devon and Exeter Hospital (S.E.), Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., Translational and Clinical Research Institute, Newcastle University (G.S.G., Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Liverpool Women's NHS Foundation Trust, University of Bristol, Sheffield Children's Hospital, University of California, San Francisco School of Medicine, CT (P.N.R.) and the Center for Genome Research and Biocomputing, Oregon State University
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Datasets

Dataset
Description
Source Link
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Release 1.2