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Akademický článek

Comprehensive characterization of fetal and mature retinal cell identity to assess the fidelity of retinal organoids.

Autor: Kim HJ; Computational Systems Biology Group, Children's Medical Research Institute, The University of Sydney, Westmead, NSW 2145, Australia; School of Mathematics and Statistics, The University of Sydney, Sydney, NSW 2006, Australia; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW 2006, Australia., O'Hara-Wright M; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW 2006, Australia; Stem Cell Medicine Group, Children's Medical Research Institute, The University of Sydney, Westmead, NSW 2145, Australia., Kim D; Computational Systems Biology Group, Children's Medical Research Institute, The University of Sydney, Westmead, NSW 2145, Australia; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW 2006, Australia., Loi TH; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW 2006, Australia; Eye Genetics Research Unit, Children's Medical Research Institute, Sydney Children's Hospitals Network, Save Sight Institute, The University of Sydney, Westmead, NSW 2145, Australia., Lim BY; Stem Cell Medicine Group, Children's Medical Research Institute, The University of Sydney, Westmead, NSW 2145, Australia., Jamieson RV; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Westmead, NSW 2145, Australia; Eye Genetics Research Unit, Children's Medical Research Institute, Sydney Children's Hospitals Network, Save Sight Institute, The University of Sydney, Westmead, NSW 2145, Australia., Gonzalez-Cordero A; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW 2006, Australia; Stem Cell Medicine Group, Children's Medical Research Institute, The University of Sydney, Westmead, NSW 2145, Australia. Electronic address: agonzalez-cordero@cmri.org.au., Yang P; Computational Systems Biology Group, Children's Medical Research Institute, The University of Sydney, Westmead, NSW 2145, Australia; School of Mathematics and Statistics, The University of Sydney, Sydney, NSW 2006, Australia; School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney, Camperdown, NSW 2006, Australia. Electronic address: pengyi.yang@sydney.edu.au.

Publikováno v: Stem cell reports [Stem Cell Reports] 2023 Jan 10; Vol. 18 (1), pp. 175-189.

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Akademický článek

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.

Autor: Nash BM; Eye Genetics Research Unit, Sydney Children's Hospitals Network, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW 2000, Australia.; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia., Ma A; Eye Genetics Research Unit, Sydney Children's Hospitals Network, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW 2000, Australia.; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.; Western Sydney Genetics Program, Department of Clinical Genetics, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia., Ho G; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia., Farnsworth E; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia., Minoche AE; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia., Cowley MJ; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.; Lowy Cancer Research Centre, Children's Cancer Institute, University of New South Wales, Randwick, NSW 2031, Australia.; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Randwick, NSW 2031, Australia., Barnett C; South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA 5006, Australia.; Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia., Smith JM; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.; Western Sydney Genetics Program, Department of Clinical Genetics, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia., Loi TH; Eye Genetics Research Unit, Sydney Children's Hospitals Network, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW 2000, Australia., Wong K; Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia., St Heaps L; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia., Wright D; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia., Dinger ME; School of Biotechnology and Biomolecular Sciences, Faculty of Science, University of New South Wales, Randwick, NSW 2031, Australia., Bennetts B; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia., Grigg JR; Eye Genetics Research Unit, Sydney Children's Hospitals Network, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW 2000, Australia.; Department of Ophthalmology, The Children's Hospital at Westmead, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia.; Save Sight Institute and Specialty of Ophthalmology, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia., Jamieson RV; Eye Genetics Research Unit, Sydney Children's Hospitals Network, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, NSW 2000, Australia.; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia.; Western Sydney Genetics Program, Department of Clinical Genetics, Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2022 Mar 31; Vol. 23 (7). Date of Electronic Publication: 2022 Mar 31.

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Akademický článek

Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability.

Autor: Chahine Karam F; Eye Genetics Research Unit, Children's Medical Research Institute, Sydney Children's Hospitals Network, Save Sight Institute, University of Sydney, Westmead, Sydney 2145, Australia., Loi TH; Eye Genetics Research Unit, Children's Medical Research Institute, Sydney Children's Hospitals Network, Save Sight Institute, University of Sydney, Westmead, Sydney 2145, Australia., Ma A; Eye Genetics Research Unit, Children's Medical Research Institute, Sydney Children's Hospitals Network, Save Sight Institute, University of Sydney, Westmead, Sydney 2145, Australia.; Department of Clinical Genetics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, Sydney 2145, Australia.; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Westmead, Sydney 2145, Australia., Nash BM; Eye Genetics Research Unit, Children's Medical Research Institute, Sydney Children's Hospitals Network, Save Sight Institute, University of Sydney, Westmead, Sydney 2145, Australia.; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Westmead, Sydney 2145, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, Sydney 2145, Australia., Grigg JR; Eye Genetics Research Unit, Children's Medical Research Institute, Sydney Children's Hospitals Network, Save Sight Institute, University of Sydney, Westmead, Sydney 2145, Australia.; Specialty of Ophthalmology, Faculty of Medicine and Health, University of Sydney, Sydney 2006, Australia., Parekh D; Rare Diseases Functional Genomics Laboratory, Sydney Children's Hospitals Network and Children's Medical Research Institute, Westmead, Sydney 2145, Australia., Riley LG; Rare Diseases Functional Genomics Laboratory, Sydney Children's Hospitals Network and Children's Medical Research Institute, Westmead, Sydney 2145, Australia.; Specialty of Child and Adolescent Health, University of Sydney, Westmead, Sydney 2145, Australia., Farnsworth E; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Westmead, Sydney 2145, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, Sydney 2145, Australia., Bennetts B; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Westmead, Sydney 2145, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, Sydney 2145, Australia., Gonzalez-Cordero A; Stem Cell Medicine Group, Children's Medical Research Institute, University of Sydney, Westmead, Sydney 2145, Australia.; School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney 2006, Australia., Jamieson RV; Eye Genetics Research Unit, Children's Medical Research Institute, Sydney Children's Hospitals Network, Save Sight Institute, University of Sydney, Westmead, Sydney 2145, Australia.; Department of Clinical Genetics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Westmead, Sydney 2145, Australia.; Specialty of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Westmead, Sydney 2145, Australia.

Publikováno v: Journal of personalized medicine [J Pers Med] 2022 Mar 21; Vol. 12 (3). Date of Electronic Publication: 2022 Mar 21.

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