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全基因组测序在线粒体疾病诊断中的应用
查看ORCID配置文件瑞恩·l·戴维斯,查看ORCID配置文件Kishore R. Kumar,克莱尔•帕蒂克,查看ORCID配置文件克里斯蒂娜梁,凯特·e·艾哈迈德,Fabienne Edema-Hildebrand,kim公园,安德烈·e·米诺什,Velimir Gayevskiy,查看ORCID配置文件Amali C. Mallawaarachchi,查看ORCID配置文件约翰Christodoulou,查看ORCID配置文件黛博拉·斯科菲尔德,查看ORCID配置文件马塞尔·e·丁格尔,查看ORCID配置文件马克·j·考利,查看ORCID配置文件卡罗琳·m·苏
第一次出版2022年5月31日
DOI: https://doi.org/10.1212/WNL.0000000000200745
瑞恩·l·戴维斯
来自神经遗传学系(r.l.d., k.r.k., c.l., k.e.a., f.e.h。,J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
Kishore R. Kumar
来自神经遗传学系(r.l.d., k.r.k., c.l., k.e.a., f.e.h。,J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
克莱尔•帕蒂克
来自神经遗传学系(r.l.d., k.r.k., c.l., k.e.a., f.e.h。,J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
克里斯蒂娜梁
来自神经遗传学系(r.l.d., k.r.k., c.l., k.e.a., f.e.h。,J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
凯特·e·艾哈迈德
来自神经遗传学系(r.l.d., k.r.k., c.l., k.e.a., f.e.h。,J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
Fabienne Edema-Hildebrand
来自神经遗传学系(r.l.d., k.r.k., c.l., k.e.a., f.e.h。,J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
kim公园
来自神经遗传学系(r.l.d., k.r.k., c.l., k.e.a., f.e.h。,J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
安德烈·e·米诺什
来自神经遗传学系(r.l.d., k.r.k., c.l., k.e.a., f.e.h。,J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
Velimir Gayevskiy
来自神经遗传学系(r.l.d., k.r.k., c.l., k.e.a., f.e.h。,J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
Amali C. Mallawaarachchi
来自神经遗传学系(r.l.d., k.r.k., c.l., k.e.a., f.e.h。,J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
约翰Christodoulou
来自神经遗传学系(r.l.d., k.r.k., c.l., k.e.a., f.e.h。,J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
黛博拉·斯科菲尔德
来自神经遗传学系(r.l.d., k.r.k., c.l., k.e.a., f.e.h。,J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
马塞尔·e·丁格尔
来自神经遗传学系(r.l.d., k.r.k., c.l., k.e.a., f.e.h。,J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
马克·j·考利
来自神经遗传学系(r.l.d., k.r.k., c.l., k.e.a., f.e.h。,J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
卡罗琳·m·苏
来自神经遗传学系(r.l.d., k.r.k., c.l., k.e.a., f.e.h。,J.-S.P., C.M.S.), Kolling Institute, Faculty of Medicine and Health, University of Sydney and Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Kinghorn Centre for Clinical Genomics (R.L.D., K.R.K., C.P., A.E.M., V.G., A.C.M., M.E.D., M.J.C., C.M.S.), Garvan Institute of Medical Research, Darlinghurst; Department of Neurology (K.R.K., C.L., K.E.A., F.E.-H., C.M.S.), Royal North Shore Hospital, Northern Sydney Local Health District, St. Leonards; Dr. Kumar is now with Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia; Dr. Park is now with Cenyx Biotech, Jongno-gu, Seoul, South Korea; Brain and Mitochondrial Research Group (J.C.), Murdoch Children's Research Institute, Parkville, Melbourne; Department of Paediatrics (J.C.), University of Melbourne, Victoria; Prof. Schofield is now with GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie University, Macquarie Park; Prof. Dinger is now with School of Biotechnology and Biomolecular Sciences, University of New South Wales, Randwick; and Prof. Cowley is now with Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, Australia.
全基因组测序在线粒体疾病诊断中的应用
瑞安L。戴维斯,基肖尔R。库马尔,克莱尔•帕蒂克,克里斯蒂娜梁,凯特·E。艾哈迈德,的法Edema-Hildebrand,-公园,安德烈·E。Minoche,VelimirGayevskiy,Amali C。Mallawaarachchi,约翰Christodoulou,黛博拉斯科菲尔德,马塞尔·E。全垒打,Mark J。考利,卡洛琳。苏
半岛投注体育官网
2022年8月,
99
(7)
e730-e742;
DOI:10.1212 / WNL.0000000000200745
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作者回应:利用全基因组测序诊断线粒体疾病
- 瑞安L戴维斯,研究员,悉尼大学
- 基肖尔R库马尔,神经学家,悉尼大学
- 埃路易斯沃森,神经学家,悉尼大学
- 卡洛琳米苏,神经学家,悉尼大学
2022年7月27日提交 -
读者回应:全基因组测序用于线粒体疾病诊断
- 凯瑟琳·R肖恩,临床研究员,剑桥大学
- 帕特里克·FChinnery,神经学家,剑桥大学
2022年7月14日提交
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