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Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder
Affiliation:1. Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands;2. CAPES Foundation, Ministry of Education of Brazil, Brasília, Brazil;3. Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran;4. Research Centre for Medical Genetics, Moscow, Russia;5. Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran;6. Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland;7. Department of Human Genetics, Hannover Medical School, Hanover, Germany;8. Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran;9. Department of Medical Genetics, Kawsar Human Genetics Research Center, Tehran, Iran;10. Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA;11. Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan;12. Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical Research Center, University of Health Sciences, Lahore, Pakistan;13. Center for Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan;14. Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands;15. St. Luke’s Children’s Genetics and Metabolic Clinic, Boise, ID, USA;16. St Luke’s Pediatric Neurology Clinic, Boise, ID, USA;17. Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland;18. Department of Pediatric Neurology, Medical University of Silesia, Katowice, Poland;19. Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands;20. Faculty of Medicine, Pediatric Department Division of Child Neurology, The University of Jordan, Amman, Jordan;21. Department of Endocrinology Diabetes and Metabolism, Lausanne University Hospital, Lausanne, Switzerland;22. Department of Neuropediatrics, Children’s and Youth Hospital Auf der Bult, Hanover, Germany;23. Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland;24. Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA, USA;25. Department of Pediatrics, University of Washington, Seattle, WA, USA;26. Brotman Baty Institute for Precision Medicine, Seattle, WA, USA;27. Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland;28. Department of Psychiatry & Behavioral Sciences, Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA;29. Biomedical Research Foundation Academy of Athens, Athens, Greece;1. Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands;2. CAPES Foundation, Ministry of Education of Brazil, Brasília, Brazil;3. Persian BayanGene Research and Training Center, Shiraz University of Medical Sciences, Shiraz, Fars, Iran;4. Research Centre for Medical Genetics, Moscow, Russia;5. Molecular Medicine Research Center, Hormozgan Health Institute, Hormozgan University of Medical Sciences, Bandar Abbas, Iran;6. Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland;7. Department of Human Genetics, Hannover Medical School, Hanover, Germany;8. Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran;9. Department of Medical Genetics, Kawsar Human Genetics Research Center, Tehran, Iran;10. Department of Otorhinolaryngology Head & Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD, USA;11. Department of Molecular Biology, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan;12. Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical Research Center, University of Health Sciences, Lahore, Pakistan;13. Center for Excellence in Molecular Biology, University of Punjab, Lahore, Pakistan;14. Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands;15. St. Luke’s Children’s Genetics and Metabolic Clinic, Boise, ID, USA;16. St Luke’s Pediatric Neurology Clinic, Boise, ID, USA;17. Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland;18. Department of Pediatric Neurology, Medical University of Silesia, Katowice, Poland;19. Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands;20. Faculty of Medicine, Pediatric Department Division of Child Neurology, The University of Jordan, Amman, Jordan;21. Department of Endocrinology Diabetes and Metabolism, Lausanne University Hospital, Lausanne, Switzerland;22. Department of Neuropediatrics, Children’s and Youth Hospital Auf der Bult, Hanover, Germany;23. Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland;24. Center for Integrative Brain Research, Seattle Children’s Research Institute, Seattle, WA, USA;25. Department of Pediatrics, University of Washington, Seattle, WA, USA;26. Brotman Baty Institute for Precision Medicine, Seattle, WA, USA;27. Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland;28. Department of Psychiatry & Behavioral Sciences, Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA;29. Biomedical Research Foundation Academy of Athens, Athens, Greece
Abstract:
Keywords:
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