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Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
Affiliation:1. Department of Laboratory Animal Science, School of Basic Medical Sciences, Xi’an Jiaotong University, Xi’an 710061, China;2. National Local Joint Engineering Research Center for Precision Surgery & Regenerative Medicine, the First Affiliated Hospital of Xi’an Jiaotong University, Xi’an 710061, China;3. Center of Medical Genetics, Northwest Women’s and Children’s Hospital, the Affiliated Northwest Women’s and Children’s Hospital of Xi’an Jiaotong University Health Science Center, Xi’an 710003, China;4. Department of Pediatrics, CHU Sainte Justine Research Center, University of Montreal, 3175 Cote-Sainte-Catherine, Montreal, QC H3T 1C5, Canada;5. Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo 108-8639, Japan;6. Research Unit Molecular Immune Regulation, Helmholtz Zentrum München, German Research Center for Environmental Health, D-81377 Munich, Germany;7. Molecular Biology Program, Université de Montréal, Montréal, QC H3T 1J4, Canada;8. Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Tygerberg 7505, South Africa;9. Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan;10. Department of Pediatrics, North Medical Center, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan;11. Department of Pediatrics, Kyoto City Hospital, Kyoto 604-8845, Japan;12. Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University Foundation NHS Trust, Health Innovation Manchester, M13 9WL Manchester, UK;13. Department of Ultrasound, the Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an 710004, China;14. Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, M13 9PL Manchester, UK;15. Shaanxi Institute for Pediatric Diseases, Xi’an Children’s Hospital, Affiliated Children’s Hospital of Xi’an Jiaotong University, Xi’an 710082, China;16. Institute of Human Genetics, University of Lübeck, 23538 Lübeck, Germany;17. Institute of Human Genetics, School of Medicine, Technical University Munich, 80333 Munich, Germany;18. Department of Paediatric Neurology and Developmental Medicine, Hauner Children’s Hospital, Ludwig Maximilian University of Munich, 80539 Munich, Germany;19. Division of Medical Genetics, Saitama Children’s Hospital, Saitama 330-8777, Japan;20. Division of Gastroenterology, Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA;21. Spectrum Health, Grand Rapids, MI 49503, USA;22. Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo 162-8655, Japan;23. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan;24. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Program in Genetics and Genome Biology, SickKids Research Institute, and Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada;25. Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A4, Canada;26. Institute for Clinical Genetics, University Hospital, TU Dresden, 01069 Dresden, Germany;27. Department of Medical Ethics and Medical Genetics, Kyoto University School of Public Health, Kyoto 606-8501, Japan;28. Department of Microbiology and Immunology, University of California San Francisco, San Francisco, CA 94143, USA;29. Institute of Human Genetics, University Medical Center Göttingen, 37075 Göttingen, Germany;30. Institute of Experimental Genetics, German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), 85764 Neuherberg, Germany;31. Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, 85354 Freising, Germany;32. German Center for Diabetes Research (DZD), 85764 Neuherberg, Germany;33. Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, 1102-2801, Lebanon and Institut Jerome Lejeune, 75015 Paris, France;34. Institute for Immunology, Biomedical Center, Faculty of Medicine, Ludwig-Maximilians-Universität in Munich, 82152 Planegg-Martinsried, Germany;35. DZHK (German Center for Cardiovascular Research), partner site Göttingen, 37075 Göttingen, Germany;36. Cluster of Excellence "Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells" (MBExC), University of Göttingen, 37075 Göttingen, Germany;37. Institute for Radiological Diagnostics, Universitätsklinikum Carl Gustav Carus Dresden, Technische Universität, 01307 Dresden, Germany;38. Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;39. Baylor Genetics Laboratories, Houston, TX 77021, USA;1. Department of Psychiatry, Washington University School of Medicine, Saint Louis, MO, USA;2. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA;3. Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA;4. VA Cooperative Studies Program Clinical Epidemiology Research Center (CSP-CERC), VA CT Healthcare System, West Haven, CT, USA;5. Department of Anthropology, University of Toronto, Mississauga, ON, Canada;6. Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada;7. Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA;8. Center for Innovations in Quality, Effectiveness, and Safety (IQuESt), Michael E. DeBakey VA Medical Center, Houston, TX 77030, USA;9. Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27705, USA;10. VA Cooperative Studies Program Epidemiology Center-Durham, Department of Veterans Affairs, Durham, NC 27705, USA;11. Department of Psychology and Neuroscience, University of Colorado Boulder, Boulder, CO, USA;12. Institute for Behavioral Genetics, University of Colorado Boulder, Boulder, CO, USA;1. Department of Medicine, Division of Medical Genetics, University of California San Diego, La Jolla, CA 92093, USA;2. Bioinformatics and Systems Biology Program, University of California San Diego, La Jolla, CA 92093, USA;3. Biomedical Science Program, University of California San Diego, La Jolla, CA 92093, USA;4. Department of Computer Science and Engineering, University of California San Diego, La Jolla, CA 92093, USA;5. Public Health Sciences Division, Herbold Computational Biology Program, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA;6. Center for Data and Computational Sciences (C-DACS), VA Boston Healthcare System, Boston, MA 02130, USA;7. Booz Allen Hamilton, Inc., McLean, VA 22102, USA;8. Palo Alto Epidemiology Research and Information Center for Genomics, VA Palo Alto, CA, USA;9. Division of Genetics and Genomics, Department of Pediatrics, Boston Children’s Hospital, Boston, MA 02115, USA;10. Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA;11. Broad Institute of Harvard and MIT, Cambridge, MA 02115, USA;12. Department of Veterans Affairs Informatics and Computing Infrastructure (VINCI), VA Salt Lake City Healthcare System, Salt Lake City, UT, USA;13. Department of Internal Medicine, Division of Epidemiology, University of Utah School of Medicine, Salt Lake City, UT, USA;14. VA San Diego Healthcare System, La Jolla, CA, USA;15. Center for Behavioral Genetics of Aging, University of California San Diego, La Jolla, CA, USA;16. Center of Excellence for Stress and Mental Health (CESAMH), VA San Diego Healthcare System, San Diego, CA, USA;17. Department of Medicine, Brigham Women’s Hospital, Boston, MA, USA;18. Department of Medicine, Harvard Medical School, Boston, MA, USA;19. Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA;20. Department of Pathology, University of California San Diego, La Jolla, CA 92093, USA;21. Division of Epidemiology, Herbert Wertheim School of Public Health and Human Longevity Science, University of California San Diego, La Jolla, CA 92093, USA;22. Center for Population Neuroscience and Genetics, Laureate Institute for Brain Research, Tulsa, OK 74136, USA;23. Moores Cancer Center, University of California San Diego, La Jolla, CA 92093, USA;24. Division of Biomedical Informatics, Department of Medicine, University of California San Diego, La Jolla, CA 92093, USA;25. The Laboratory of Immunology, University of California San Diego, La Jolla, CA 92093, USA;26. Department of Medicine, Division of Hematology and Oncology, University of California San Diego, La Jolla, CA 92093, USA;1. Cancer Genetics Laboratory, Division of Pulmonary and Critical Care Medicine, Brigham and Women’s Hospital, Harvard Medical School, Boston, MA 02115, USA;2. Division of Hematology/Oncology, Cancer and Blood Disease Institute, Children’s Hospital Los Angeles, Los Angeles, CA 90027, USA;3. Boston Dermatology and Laser Center, Massachusetts General Hospital, Boston, MA 02114, USA;4. Center for Cancer Genomics, Dana-Farber Cancer Institute, Boston, MA 02215, USA;5. Molecular Biology Core Facilities, Dana-Farber Cancer Institute, Boston, MA 02215, USA;6. Department of Dermatology, Uniformed Services University, Bethesda, MA 20814, USA;7. Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA;8. Department of Dermatology, University Hospitals Cleveland Medical Center, Case Western Reserve University Cleveland, Cleveland, OH 44106, USA;9. Division of Hospital Medicine, Barnes Jewish Hospital, Washington University in St Louis, St. Louis, MO 63110, USA;10. Department of Neurology and Epileptology, Children’s Memorial Health Institute, Warsaw 04-736, Poland;11. Research Department, Children’s Memorial Health Institute, Warsaw 04-736, Poland;1. Sorbonne Université, Paris Brain Institute (ICM), Pitié-Salpêtrière Hospital, AP-HP, INSERM, CNRS, University Hospital Pitié-Salpêtrière, CS21414, 75646 PARIS Cedex 13, France;2. Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy;3. German Center for Neurodegenerative Disease (DZNE), 53127 Bonn, Germany;4. Department of Neurology, University Hospital of Bonn, 53111 Bonn, Germany;5. Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6525 Nijmegen, the Netherlands;6. Neurology Department, Hospital de Santo António, Centro Hospitalar Universitário de Santo António, 4099-001 Porto, Portugal;7. CGPP, IBMC-Institute for Molecular and Cell Biology & UnIGENe, i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal;8. German Center for Neurodegenerative Disease (DZNE), 72076 Tübingen, Germany;9. Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research & Center of Neurology, University of Tübingen, 72076 Tübingen, Germany;10. Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu’ Children’s Research Hospital, IRCCS, 00165 Rome, Italy;11. Department of Neuromuscular Diseases, UCL Queen’s Square Institute of Neurology, Queen’s Square House, Queen’s Square, WC1N 3BG London, UK;12. Department of Neuroscience and Reproductive and Odontostomatological Sciences, University of Naples Federico II, 80131 Naples, Italy;13. Institute of Neuroscience and Medicine (INM-1), Research Centre Jülich, 52428 Jülich, Germany;14. Institute of Clinical Neuroscience and Medical Psychology and Department of Neurology, Center for Movement Disorders and Neuromodulation, Medical Faculty & University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany;15. Molecular Medicine & Neurogenetics, IRCCS Fondazione Stella Maris, 56128 Calambrone, Italy;16. University of Washington, Seattle, WA 98195, USA;17. Center for Rare Movement Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria;18. Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, 25121 Brescia, Italy;19. German Center for Neurodegenerative Disease (DZNE), München, Germany;20. Department of Neurology, Friedrich-Baur Institute, University Hospital of Ludwig-Maximilians-University, Munich Cluster for Systems Neurology (SyNergy), 80336 Munich, Germany;21. Neurosciences, Mental Health, and Sensory Organs (NESMOS) Department, S. Andrea Hospital, Sapienza University of Rome, 00189 Rome, Italy;22. San Raffaele Hospital and Vita-Salute San Raffaele University, Milan, Italy;23. Scientific Institute I.R.C.C.S. Eugenio Medea, 23842 Bosisio Parini, Italy;24. Pediatric Neurology Department, Sant Joan de Déu Hospital, 08950 Barcelona, Spain;25. Department of Neurology and Experimental Neurology, Charité – Universitätsmedizin Berlin, 10117 Berlin, Germany;26. Department of Neurology, Leiden University Medical Center, 2333 Leiden, the Netherlands;27. Department of Clinical Genetics, Dijon University Hospital, 21000 Dijon, France;28. Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, 45147 Essen, Germany;29. Department of Neurology, Clermont-Ferrand University Hospital, 63000 Clermont-Ferrand, France;30. Gardner Family Center for Parkinson’s Disease and Movement Disorders, Department of Neurology, University of Cincinnati, Cincinnati, OH 45219, USA;31. Sapienza University of Rome, Department of Medico-Surgical Sciences and Biotechnologies, Polo Pontino, 04100 Latina, Italy;32. Computational Biomedicine, Institute for Advanced Simulations IAS-5 and Institute of Neuroscience and Medicine INM-9, Forschungszentrum Jülich GmbH, 52428 Jülich, Germany;33. Department of Biotechnology, Università degli Studi di Verona, 37134 Verona, Italy;34. Neurology Department, Tel-Aviv Sourasky Medical Center, 6329302 Tel-Aviv, Israel;35. Sackler School of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel;36. Pediatric Movement Disorders Clinic, Pediatric Neurology Unit, Wolfson Medical Center, 5822012 Holon, Israel;37. University Bordeaux, Equipe « Neurogénétique Translationnelle - NRGEN », INCIA CNRS UMR5287 Université Bordeaux and Centre de Reference Maladies Rares « Neurogénétique », Service de Génétique Médicale, Bordeaux University Hospital (CHU Bordeaux), 33000 Bordeaux, France;38. MMDN, University Montpellier, EPHE, INSERM and Expert Center for Neurogenetic Diseases, CHU, 34095 Montpellier, France;39. Department of Neurology, Strasbourg University Hospital, 67098 Strasbourg, France;40. Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964; CNRS-UMR7104; University of Strasbourg, 67400 Illkirch-Graffenstaden, France;41. Department of Neurovascular Molecular Genetics, Assistance Publique-Hôpitaux de Paris, Hôpital Saint-Louis, 75010 Paris, France;1. Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Carlton, VIC 3053, Australia;2. Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK;3. Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC 3168, Australia;4. Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville, VIC 3051, Australia;1. Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland;2. Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA;3. Clinicum, Department of Public Health, University of Helsinki, Helsinki, Finland;4. Department of Epidemiology and Public Health, University College London, London, UK;5. Broad Institute of MIT and Harvard, Cambridge, MA, USA;6. Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA
Abstract:
Keywords:ERI1  skeletal dysplasia  ribosomopathy  spondyloepimetaphyseal dysplasia  short stature  exoribonuclease
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