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Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
Institution:1. Centre de génétique humaine, Université de Franche-Comté, Besançon, France;2. Neuroregeneration and Stem Cell Programs, Institute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA;3. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA;4. Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland;5. Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva 1211, Switzerland;6. Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, Athens, Greece;7. Biomedical Research Foundation of the Academy of Athens, Athens, Greece;8. Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK;9. Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK;10. Department of Pediatrics, Duke University Medical Center, Durham, NC, USA;11. Department of Biophysics and Biophysical Chemistry, Biophysics and Biomedical Engineering, JHU Howard Hughes Medical Institute, Baltimore, MD 21205, USA;12. Providence Medical Group Genetic Clinics, Spokane, WA, USA;13. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;14. Department of Biostatistics and Bioinformatics, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL 33612, USA;15. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA;16. Molecular Modeling Group, Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland;17. Computer-Aided Molecular Engineering, Department of Oncology, Ludwig Institute for Cancer Research Lausanne Branch, University of Lausanne, Lausanne, Switzerland;18. Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA;19. University Texas Health Science Center, Houston, TX 77030, USA;20. Department of Medical Genetics, Marmara University School of Medicine, Istanbul 34722, Turkey;21. Centre for Clinical Genetics, Sydney Children’s Hospital, Sydney, NSW, Australia;22. Neuroscience Research Australia (NeuRA) Institute, Sydney, NSW, Australia;23. Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA;24. Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA;25. UF6254 Innovation en diagnostic génomique des maladies rares, CHU Dijon Bourgogne, Dijon, France;26. INSERM UMR1231 GAD, Bourgogne Franche-Comté University, Dijon, France;27. Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Dijon-Burgundy University Hospital, Dijon, France;28. Clinical Investigation Center 1431, National Institute of Health and Medical Research (INSERM), CHU, Besancon, France;29. EA481 Integrative and Cognitive Neuroscience Research Unit, University of Franche-Comte, Besancon, France;30. Texas Children’s Hospital, Houston, TX 77030, USA;31. New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia;32. Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA;33. Solomon H. Snyder, Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA;34. Department of Pharmacology and Molecular Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA;35. Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland
Abstract:
Keywords:mendelian disorders  gene  pathogenic variants  autosomal recessive  TTI1 gene  consanguinity  neurodevelopment  microcephaly
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