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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder
Institution:1. Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA, USA;;2. Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA;;3. Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA;;4. Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France;;5. Institute of Genetics and Molecular and Cellular Biology, Université de Strasbourg, Illkirch, France;;6. Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany;;7. Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China;;8. The Campbell Family Mental Health Research Institute, Centre for Addiction & Mental Health (CAMH), Toronto, ON, Canada;;9. Institute of Medical Science, University of Toronto, Toronto, ON, Canada;;10. Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA;;11. WuXi NextCODE, Cambridge, MA, USA;;12. Département de Biochimie et de Génétique, CHU d’Angers, Angers, France;;13. UMR INSERM 1083 CNRS 6015, Angers, France;;14. Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA;;15. Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA;;16. Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany;;17. Yale New Haven Health, New Haven, CT, USA;;18. Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA;;19. Department of Pediatrics, McGovern Medical School at the University of Texas Health Sciences Center, Houston, TX, USA;;20. Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA;;21. Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA;;22. Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA;;23. New York State Institute for Basic Research in Developmental Disability, NY, Staten Island, USA;;24. Service de Génétique Médicale, Centre hospitalier, Le Mans, France;;25. Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d’Alsace, Strasbourg, France;;26. Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France;;27. Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France;;28. Université Montpellier, Unité Inserm U1183, Montpellier, France;;29. Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands;;30. Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA;;31. Memorial Hermann Memorial City Medical Center, Houston, TX, USA;;32. Arnold Palmer Hospital for Children, Orlando, FL, USA;;33. Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children’s Hospital Colorado, Aurora, CO, USA;;34. Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA;;35. Division of Pediatric Neurology, Columbia University Irving Medical Center, New York, NY, USA;;36. Division of Genetics, St. Luke’s Clinic, Boise, ID, USA;;37. Department of Genetics and Genome Sciences, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH, USA;;38. Service de Génétique Clinique Guy Fontaine Centre de référence maladies rares Anomalies du dévelopement, Hôpital Jeanne de Flandre Lille, Lille, France;;39. Department of Pediatrics, AI duPont Hospital, DE, Wilmington, USA;;40. Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch-Graffenstaden, Lille, France;;41. Service de Génétique Clinique, Centre de compétence Maladies rares Anomalies du dévelopement, CHU de Poitiers, Poitiers, France;;42. Service de Génétique Clinique Centre de référence maladies rares Anomalies du dévelopement, CHU Amiens-Picardie, Amiens, France;;43. Children’s Medical Center, UMass Memorial Medical Center, Worcester, MA, USA;;44. Department of Psychiatry, Queen’s University, Kingston, ON, Canada;;45. Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada;;46. GeneDx, Gaithersburg, MD, USA;;47. Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children’s Hospital, Stanford University, Stanford, CA, USA;;48. Departments of Neurosciences and Pediatrics, University of California San Diego and Division of Neurology, Rady Children’s Hospital, San Diego, CA, USA;;49. Rady Children’s Institute for Genomic Medicine, San Diego, CA, USA;;50. Department of Biosciences, COMSATS University, Islamabad, Pakistan;;51. Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA;;52. Department of Neurology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA;;53. David Geffen School of Medicine at UCLA, Los Angeles, CA, USA;;54. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands;;55. CHU de Nantes, Service de génétique médicale, Nantes, France;;56. University of Washington Foundation Board, University of Washington, Seattle, WA, USA;;57. NIH Undiagnosed Diseases Network, Office of the Director and the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA;;58. Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.;1. Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA, USA;;2. Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA;;3. Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA;;4. Molecular Genetic Unit, Strasbourg University Hospital, Strasbourg, France;;5. Institute of Genetics and Molecular and Cellular Biology, Université de Strasbourg, Illkirch, France;;6. Institute of Human Genetics, University Hospital Elrangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, Germany;;7. Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China;;8. The Campbell Family Mental Health Research Institute, Centre for Addiction & Mental Health (CAMH), Toronto, ON, Canada;;9. Institute of Medical Science, University of Toronto, Toronto, ON, Canada;;10. Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA;;11. WuXi NextCODE, Cambridge, MA, USA;;12. Département de Biochimie et de Génétique, CHU d’Angers, Angers, France;;13. UMR INSERM 1083 CNRS 6015, Angers, France;;14. Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA;;15. Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA;;16. Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany;;17. Yale New Haven Health, New Haven, CT, USA;;18. Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA;;19. Department of Pediatrics, McGovern Medical School at the University of Texas Health Sciences Center, Houston, TX, USA;;20. Indiana University Health at Riley Hospital for Children, Indianapolis, IN, USA;;21. Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA;;22. Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA;;23. New York State Institute for Basic Research in Developmental Disability, NY, Staten Island, USA;;24. Service de Génétique Médicale, Centre hospitalier, Le Mans, France;;25. Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d’Alsace, Strasbourg, France;;26. Service de génétique clinique, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Strasbourg, France;;27. Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Ouest Occitanie Réunion, Hôpital Arnaud de Villeneuve, Montpellier, France;;28. Université Montpellier, Unité Inserm U1183, Montpellier, France;;29. Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands;;30. Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA;;31. Memorial Hermann Memorial City Medical Center, Houston, TX, USA;;32. Arnold Palmer Hospital for Children, Orlando, FL, USA;;33. Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine and Children’s Hospital Colorado, Aurora, CO, USA;;34. Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA;;35. Division of Pediatric Neurology, Columbia University Irving Medical Center, New York, NY, USA;;36. Division of Genetics, St. Luke’s Clinic, Boise, ID, USA;;37. Department of Genetics and Genome Sciences, Case Western Reserve University, University Hospitals Cleveland Medical Center, Cleveland, OH, USA;;38. Service de Génétique Clinique Guy Fontaine Centre de référence maladies rares Anomalies du dévelopement, Hôpital Jeanne de Flandre Lille, Lille, France;;39. Department of Pediatrics, AI duPont Hospital, DE, Wilmington, USA;;40. Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch-Graffenstaden, Lille, France;;41. Service de Génétique Clinique, Centre de compétence Maladies rares Anomalies du dévelopement, CHU de Poitiers, Poitiers, France;;42. Service de Génétique Clinique Centre de référence maladies rares Anomalies du dévelopement, CHU Amiens-Picardie, Amiens, France;;43. Children’s Medical Center, UMass Memorial Medical Center, Worcester, MA, USA;;44. Department of Psychiatry, Queen’s University, Kingston, ON, Canada;;45. Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada;;46. GeneDx, Gaithersburg, MD, USA;;47. Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children’s Hospital, Stanford University, Stanford, CA, USA;;48. Departments of Neurosciences and Pediatrics, University of California San Diego and Division of Neurology, Rady Children’s Hospital, San Diego, CA, USA;;49. Rady Children’s Institute for Genomic Medicine, San Diego, CA, USA;;50. Department of Biosciences, COMSATS University, Islamabad, Pakistan;;51. Division of Genetics and Genomics, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA;;52. Department of Neurology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA;;53. David Geffen School of Medicine at UCLA, Los Angeles, CA, USA;;54. Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands;;55. CHU de Nantes, Service de génétique médicale, Nantes, France;;56. University of Washington Foundation Board, University of Washington, Seattle, WA, USA;;57. NIH Undiagnosed Diseases Network, Office of the Director and the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA;;58. Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
Abstract:
Keywords:
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