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- [1] Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypesPARKINSONISM & RELATED DISORDERS, 2019, 69 : 111 - 118Kumar, Kishore R.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Univ Sydney, Kolling Inst, Dept Neurogenet, St Leonards, NSW 2065, Australia Royal North Shore Hosp, St Leonards, NSW 2065, Australia Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Concord Hosp, Mol Med Lab, Concord, NSW 2139, Australia Concord Hosp, Dept Neurol, Concord, NSW 2139, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaDavis, Ryan L.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Univ Sydney, Kolling Inst, Dept Neurogenet, St Leonards, NSW 2065, Australia Royal North Shore Hosp, St Leonards, NSW 2065, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaTchan, Michel C.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Westmead Hosp, Dept Genet Med, Westmead, NSW 2145, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaWali, G. M.论文数: 0 引用数: 0 h-index: 0机构: Jawaharlal Nehru Med Coll, Neurospecialties Ctr, Belgaum, India Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaMahant, Neil论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Sydney Med Sch, Westmead Hosp, Movement Disorders Unit,Dept Neurol, Sydney, NSW 2145, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaNg, Karl论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Royal North Shore Hosp, Dept Neurol & Neurophysiol, Reserve Rd, St Leonards, NSW 2065, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaKotschet, Katya论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Florey Neurosci Inst, Parkville, Vic 3052, Australia St Vincent Hosp, Dept Neurol, Fitzroy, Vic 3065, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaSiow, Sue-Faye论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Kolling Inst, Dept Neurogenet, St Leonards, NSW 2065, Australia Royal North Shore Hosp, St Leonards, NSW 2065, Australia Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Westmead Hosp, Dept Genet Med, Westmead, NSW 2145, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaGu, Jason论文数: 0 引用数: 0 h-index: 0机构: Wollongong Hosp, Dept Neurol, Wollongong, NSW 2500, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaWalls, Zachary论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Engn & Informat Technol, Darlington, NSW 2008, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaKang, Ce论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaWali, Gautam论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Kolling Inst, Dept Neurogenet, St Leonards, NSW 2065, Australia Royal North Shore Hosp, St Leonards, NSW 2065, Australia Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaLevy, Stan论文数: 0 引用数: 0 h-index: 0机构: Campbelltown Hosp, Campbelltown, NSW 2560, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaSen Phua, Chung论文数: 0 引用数: 0 h-index: 0机构: Campbelltown Hosp, Campbelltown, NSW 2560, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaYiannikas, Con论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Concord Hosp, Dept Neurol, Concord, NSW 2139, Australia Royal North Shore Hosp, Dept Neurol, St Leonards, NSW 2065, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaDarveniza, Paul论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Sch Med, Sydney, NSW, Australia St Vincents Hosp, Dept Neurol, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaChang, Florence C. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Sydney Med Sch, Westmead Hosp, Movement Disorders Unit,Dept Neurol, Sydney, NSW 2145, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaMorales-Briceno, Hugo论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Sydney Med Sch, Westmead Hosp, Movement Disorders Unit,Dept Neurol, Sydney, NSW 2145, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaRowe, Dominic B.论文数: 0 引用数: 0 h-index: 0机构: Macquarie Univ, Fac Med & Hlth Sci, Dept Clin Med, Macquarie Pk, NSW 2109, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaDrew, Alex论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaGayevskiy, Velimir论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaCowley, Mark J.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Childrens Canc Inst, Kensington, NSW 2750, Australia UNSW Sydney, St Vincents Clin Sch, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaMinoche, Andre E.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaTisch, Stephen论文数: 0 引用数: 0 h-index: 0机构: Univ New South Wales, Sch Med, Sydney, NSW, Australia St Vincents Hosp, Dept Neurol, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaHayes, Michael论文数: 0 引用数: 0 h-index: 0机构: Concord Hosp, Dept Neurol, Concord, NSW 2139, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaKummerfeld, Sarah论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaFung, Victor S. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Sydney Med Sch, Westmead Hosp, Movement Disorders Unit,Dept Neurol, Sydney, NSW 2145, Australia Wollongong Hosp, Dept Neurol, Wollongong, NSW 2500, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, AustraliaSue, Carolyn M.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia Univ Sydney, Kolling Inst, Dept Neurogenet, St Leonards, NSW 2065, Australia Royal North Shore Hosp, St Leonards, NSW 2065, Australia Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Camperdown, NSW 2050, Australia Wollongong Hosp, Dept Neurol, Wollongong, NSW 2500, Australia Royal North Shore Hosp, Dept Neurol, St Leonards, NSW 2065, Australia Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Darlinghurst, NSW 2010, Australia
- [2] A Genetic Algorithm for Diploid Genome Reconstruction Using Paired-End SequencingPLOS ONE, 2016, 11 (11):Ting, Chuan-Kang论文数: 0 引用数: 0 h-index: 0机构: Natl Chung Cheng Univ, Dept Comp Sci & Informat Engn, Chiayi, Taiwan Natl Chung Cheng Univ, Dept Comp Sci & Informat Engn, Chiayi, TaiwanLine, Choun-Sea论文数: 0 引用数: 0 h-index: 0机构: Acad Sinica, Agr Biotechnol Res Ctr, Taipei, Taiwan Natl Chung Cheng Univ, Dept Comp Sci & Informat Engn, Chiayi, TaiwanChan, Ming-Tsai论文数: 0 引用数: 0 h-index: 0机构: Acad Sinica, Biotechnol Ctr Southern Taiwan, Tainan, Taiwan Natl Chung Cheng Univ, Dept Comp Sci & Informat Engn, Chiayi, TaiwanChen, Jian-Wei论文数: 0 引用数: 0 h-index: 0机构: Natl Chung Hsing Univ, Inst Biomed Sci, Taichung, Taiwan Natl Chung Cheng Univ, Dept Comp Sci & Informat Engn, Chiayi, TaiwanChuang, Sheng-Yu论文数: 0 引用数: 0 h-index: 0机构: Natl Chung Cheng Univ, Dept Comp Sci & Informat Engn, Chiayi, Taiwan Natl Chung Cheng Univ, Dept Comp Sci & Informat Engn, Chiayi, TaiwanHuang, Yao-Ting论文数: 0 引用数: 0 h-index: 0机构: Natl Chung Cheng Univ, Dept Comp Sci & Informat Engn, Chiayi, Taiwan Natl Chung Cheng Univ, Dept Comp Sci & Informat Engn, Chiayi, Taiwan
- [3] High Resolution Genetic Mapping by Genome Sequencing Reveals Genome Duplication and Tetraploid Genetic Structure of the Diploid Miscanthus sinensisPLOS ONE, 2012, 7 (03):Ma, Xue-Feng论文数: 0 引用数: 0 h-index: 0机构: Ceres Inc, Thousand Oaks, CA USA Ceres Inc, Thousand Oaks, CA USAJensen, Elaine论文数: 0 引用数: 0 h-index: 0机构: Aberystwyth Univ, IBERS, Gogerddan, Wales Ceres Inc, Thousand Oaks, CA USAAlexandrov, Nickolai论文数: 0 引用数: 0 h-index: 0机构: Ceres Inc, Thousand Oaks, CA USA Ceres Inc, Thousand Oaks, CA USATroukhan, Maxim论文数: 0 引用数: 0 h-index: 0机构: Ceres Inc, Thousand Oaks, CA USA Ceres Inc, Thousand Oaks, CA USAZhang, Liping论文数: 0 引用数: 0 h-index: 0机构: Ceres Inc, Thousand Oaks, CA USA Ceres Inc, Thousand Oaks, CA USAThomas-Jones, Sian论文数: 0 引用数: 0 h-index: 0机构: Aberystwyth Univ, IBERS, Gogerddan, Wales Ceres Inc, Thousand Oaks, CA USA论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Donnison, Iain论文数: 0 引用数: 0 h-index: 0机构: Aberystwyth Univ, IBERS, Gogerddan, Wales Ceres Inc, Thousand Oaks, CA USASwaller, Timothy论文数: 0 引用数: 0 h-index: 0机构: Ceres Inc, Thousand Oaks, CA USA Ceres Inc, Thousand Oaks, CA USAFlavell, Richard论文数: 0 引用数: 0 h-index: 0机构: Ceres Inc, Thousand Oaks, CA USA Ceres Inc, Thousand Oaks, CA USA
- [4] Genome sequencing and genetic mapping to dissect the genetic basis of complex traitsM S-MEDECINE SCIENCES, 2013, 29 (6-7): : 671 - 674Baud, Amelie论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandCalderari, Sophie论文数: 0 引用数: 0 h-index: 0机构: Ctr Rech Cordeliers, Inserm UMRS 872, F-75006 Paris, France Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandMott, Richard论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandFlint, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandGauguier, Dominique论文数: 0 引用数: 0 h-index: 0机构: Ctr Rech Cordeliers, Inserm UMRS 872, F-75006 Paris, France Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
- [5] Genome sequencing of adapted diploid potato clonesFRONTIERS IN PLANT SCIENCE, 2022, 13Achakkagari, Sai Reddy论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Plant Sci, Ste Anne De Bellevue, PQ, Canada McGill Univ, Dept Plant Sci, Ste Anne De Bellevue, PQ, CanadaKyriakidou, Maria论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Plant Sci, Ste Anne De Bellevue, PQ, Canada McGill Univ, Dept Plant Sci, Ste Anne De Bellevue, PQ, CanadaGardner, Kyle M.论文数: 0 引用数: 0 h-index: 0机构: Agr & Agri Food Canada, Fredericton Res & Dev Ctr, Fredericton, NB, Canada McGill Univ, Dept Plant Sci, Ste Anne De Bellevue, PQ, CanadaDe Koeyer, David论文数: 0 引用数: 0 h-index: 0机构: Agr & Agri Food Canada, Fredericton Res & Dev Ctr, Fredericton, NB, Canada McGill Univ, Dept Plant Sci, Ste Anne De Bellevue, PQ, CanadaDe Jong, Hielke论文数: 0 引用数: 0 h-index: 0机构: Agr & Agri Food Canada, Fredericton Res & Dev Ctr, Fredericton, NB, Canada McGill Univ, Dept Plant Sci, Ste Anne De Bellevue, PQ, CanadaStromvik, Martina, V论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Dept Plant Sci, Ste Anne De Bellevue, PQ, Canada McGill Univ, Dept Plant Sci, Ste Anne De Bellevue, PQ, CanadaTai, Helen H.论文数: 0 引用数: 0 h-index: 0机构: Agr & Agri Food Canada, Fredericton Res & Dev Ctr, Fredericton, NB, Canada McGill Univ, Dept Plant Sci, Ste Anne De Bellevue, PQ, Canada
- [6] Identifying genetic determinants of complex phenotypes from whole genome sequence dataBMC GENOMICS, 2019, 20 (1)Long, George S.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Dept Biol, Ottawa, ON, Canada Univ Ottawa, Dept Biol, Ottawa, ON, CanadaHussen, Mohammed论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Dept Biol, Ottawa, ON, Canada Univ Ottawa, Dept Biol, Ottawa, ON, CanadaDench, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Dept Biol, Ottawa, ON, Canada Univ Ottawa, Dept Biol, Ottawa, ON, CanadaAris-Brosou, Stephane论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Dept Biol, Ottawa, ON, Canada Univ Ottawa, Dept Math & Stat, Ottawa, ON, Canada Univ Ottawa, Dept Biol, Ottawa, ON, Canada
- [7] Identifying genetic determinants of complex phenotypes from whole genome sequence dataBMC Genomics, 20George S. Long论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Department of BiologyMohammed Hussen论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Department of BiologyJonathan Dench论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Department of BiologyStéphane Aris-Brosou论文数: 0 引用数: 0 h-index: 0机构: University of Ottawa,Department of Biology
- [8] Whole exome sequencing and whole Genome sequencing re-analysis to identify the genetic causes of undiagnosed neuromuscular phenotypesNEUROMUSCULAR DISORDERS, 2021, 31 : S145 - S145论文数: 引用数: h-index:机构:Neri, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Unit Med Genet, Ferrara, Italy Univ Ferrara, Unit Med Genet, Ferrara, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:D'Amico, A.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Paediat Hosp, Rome, Italy Univ Ferrara, Unit Med Genet, Ferrara, ItalyBertini, E.论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Paediat Hosp, Rome, Italy Univ Ferrara, Unit Med Genet, Ferrara, ItalyPane, M.论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ, Rome, Italy Univ Ferrara, Unit Med Genet, Ferrara, ItalyMercuri, E.论文数: 0 引用数: 0 h-index: 0机构: Catholic Univ, Rome, Italy Univ Ferrara, Unit Med Genet, Ferrara, ItalyFini, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Ferrara, Unit Med Genet, Ferrara, Italy Univ Ferrara, Unit Med Genet, Ferrara, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [9] Diagnostic genome sequencing improves genetic testing workup in imprinting disorder phenotypes: a retrospective studyEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1623 - 1623Kessler, Luise论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, Germany Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, GermanyKrause, Jeremias论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, Germany Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, GermanyKraft, Florian论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, Germany Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, GermanyKenawy, Asmaa论文数: 0 引用数: 0 h-index: 0机构: Alexandria Univ, Human Genet, Alexandria, Egypt Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, GermanyFekete, Gyorgy论文数: 0 引用数: 0 h-index: 0机构: Semmelweis Univ, Dept Pediat 2, Budapest, Hungary Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, GermanyLengyel, Anna论文数: 0 引用数: 0 h-index: 0机构: Semmelweis Univ, Dept Pediat 2, Budapest, Hungary Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, GermanyKnopp, Cordula论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, Germany Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, GermanyKurth, Ingo论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, Germany Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, GermanyElbracht, Miriam论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, Germany Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, GermanyEggermann, Thomas论文数: 0 引用数: 0 h-index: 0机构: Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, Germany Rhein Westfal TH Aachen, Human Genet & Genom Med, Aachen, Germany
- [10] Identifying the genetic basis of rare bleeding and platelet phenotypes using systematic phenotyping and genome sequencingJOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2016, 14 : 72 - 72Laffan, M.论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Dept Haematol, London, England Imperial Coll London, Dept Haematol, London, England