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Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily
Authors:Talya Millo  Antonio Rivera  Alexey Obolensky  Devora Marks-Ohana  Mingchu Xu  Yumei Li  Enosh Wilhelm  Prakadeeswari Gopalakrishnan  Menachem Gross  Boris Rosin  Mor Hanany  Andrew Webster  Anna Maria Tracewska  Robert K. Koenekoop  Rui Chen  Gavin Arno  Ora Schueler-Furman  Susanne Roosing  Dror Sharon
Affiliation:1. Division of Ophthalmology, Hadassah University Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel;2. Human Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX;3. Department of Otolaryngology/Head and Neck Surgery, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;4. University College London, Institute of Ophthalmology, London, United Kingdom;5. ?ukasiewicz Research Network – PORT Polish Center for Technology Development, Stab?owicka, Wroc?aw, Poland;6. Department of Paediatric surgery, Human Genetics and Ophthalmology, Montreal Children''s Hospital, McGill University Health Centre, Montreal, Quebec, Canada;7. Department of Microbiology and Molecular Genetics, Institute of Medical Research Israel-Canada, Faculty of Medicine, The Hebrew University of Jerusalem, Israel;8. Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands;9. Donders Institute for Brain, Cognition and Behaviour, Radboudumc, Nijmegen, The Netherlands;10. Moorfields Eye Hospital, NHS Foundation Trust, London, United Kingdom;1. Department of Medical Social Sciences, Feinberg School of Medicine, Northwestern University, Chicago, IL;2. The Comparative Health Outcomes, Policy & Economics (CHOICE) Institute and Department of Pharmacy, School of Pharmacy, University of Washington, Seattle, WA;3. Department of Health Systems and Population Health, School of Public Health, University of Washington, Seattle, WA;1. Center for Virology, Medical University of Vienna, Vienna, Austria;2. Department of Medicine IV, Clinic Favoriten, Vienna, Austria;3. Faculty of Medicine, Sigmund Freud University, Vienna, Austria;1. Memorial Sloan Kettering Cancer Center, New York, NY;2. Department of Pediatrics, Weill Cornell Medical College, New York, NY;3. Department of Population Health Sciences, Weill Cornell Medical College, New York, NY;4. Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA;1. University of North Carolina at Chapel Hill, Chapel Hill, NC;2. Birmingham Children’s Hospital NHS Foundation Trust, Birmingham, United Kingdom;3. Takeda Development Center Americas, Inc, Lexington, MA;4. Affinia Therapeutics, Waltham, MA;1. Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN;2. Department of Neurology, University of Minnesota Medical School, Minneapolis, MN;3. Biostatistical Design and Analysis Center, Clinical & Translational Science Institute, University of Minnesota, Minneapolis, MN;4. Division of Genetics and Genomics, Department of Cardiology and Department of Pediatrics, Boston Children''s Hospital, Boston, MA;5. Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University Magdeburg, Magdeburg, Germany;1. Children’s Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY;2. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom;3. Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands;4. Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands;5. Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany;6. Clinical Science for LSD, SphinCS, Hochheim, Germany;7. Department of Clinical Medicine and Surgery, “Federico II” University Hospital, Naples, Italy;8. Institute for Human Genetics, University of California San Francisco, San Francisco, CA;9. Medical Genetics Service and DR BRASIL Research Group, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil;10. Department of Genetics, Federal University of Rio Grande do Sul (UFRGS), Porto Alegre, Brazil;11. National Institute on Population Medical Genetics (INAGEMP), Porto Alegre, Brazil;12. Metabolic Disease Service Clinica Universitaria Reina Fabiola, Cordoba, Argentina;13. Department of Hematology, Fukushima Medical University, Fukushima, Japan;14. Service de Médecine Interne, Diaconesses Croix Saint-Simon Hospital, Paris, France;15. Servicio de Pediatría, Clínica Santa María, Santiago, Chile;16. Clinical Science for LSD, SphinCS, Hochheim, Germany;17. Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, Udine, Italy;18. Department of Gastroenterology, Istanbul Medeniyet University, Istanbul, Turkey;19. Department of Genetic Medicine, Westmead Hospital, Sydney, Australia;20. Hematology Department, Hospital Universitario Ramón y Cajal, Madrid, Spain;21. Clinical Development, Sanofi, Bridgewater, NJ
Abstract:
Keywords:Exome sequencing  Human genetics  Inherited retinal diseases  Pathogenic variants  Solute carrier genes
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