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Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs
Institution:1. Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany;2. Institute of Human Genetics, CMMC, University Hospital Cologne, Cologne, Germany;3. Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany;4. Biotech Research and Innovation Centre (BRIC), University of Copenhagen, Copenhagen, Denmark;5. Erasmus Medical Center, University of Rotterdam, Rotterdam, the Netherlands;6. Center for Physiology and Pathophysiology, Institute for Neurophysiology, Medical Faculty, University of Cologne, Cologne, Germany;7. Department of Pediatrics, University Clinic Carl Gustav Carus, TU Dresden, Dresden, Germany;8. Human Genetics & Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK;9. Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Southampton, UK;10. Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK;11. Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK;12. Institute of Biomedicine and Biotechnology of Cantabria (IBBTEC), University of Cantabria, Cantabria, Spain
Abstract:
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  • Keywords:enhancers  TAD  BOFS  neural crest  enhancer disconnection  enhancer adoption  structural variation  long-range regulation  haploinsufficiency  TFAP2A
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