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- [1] Micro-costing of genetic diagnostics in acute leukemia in Sweden: from standard-of-care to whole-genome sequencingJOURNAL OF MEDICAL ECONOMICS, 2024, 27 (01) : 1053 - 1060Thangavelu, Tharshini论文数: 0 引用数: 0 h-index: 0机构: Linkoping Univ, Dept Hlth Med & Caring Sci, Norrkoping, Sweden Natl Board Hlth & Welf, Dept Register & Stat, Stockholm, Sweden Linkoping Univ, Dept Hlth Med & Caring Sci, Norrkoping, SwedenWirta, Valtteri论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Sci Life Lab, Stockholm, Sweden KTH Royal Inst Technol, Sch Engn Sci Chem Biotechnol & Hlth, Sci Life Lab, Stockholm, Sweden Karolinska Univ Hosp, Clin Genet & Genom, Stockholm, Sweden Linkoping Univ, Dept Hlth Med & Caring Sci, Norrkoping, SwedenOrsmark-Pietras, Christina论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Dept Lab Med, Div Clin Genet, Lund, Sweden Off Med Serv, Dept Clin Genet Pathol & Mol Diagnost, Lund, Sweden Linkoping Univ, Dept Hlth Med & Caring Sci, Norrkoping, SwedenCavelier, Lucia论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Clin Genet & Genom, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, S-17176 Stockholm, Sweden Linkoping Univ, Dept Hlth Med & Caring Sci, Norrkoping, SwedenFioretos, Thoas论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Dept Lab Med, Div Clin Genet, Lund, Sweden Off Med Serv, Dept Clin Genet Pathol & Mol Diagnost, Lund, Sweden Linkoping Univ, Dept Hlth Med & Caring Sci, Norrkoping, SwedenBarbany, Gisela论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Clin Genet & Genom, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, S-17176 Stockholm, Sweden Linkoping Univ, Dept Hlth Med & Caring Sci, Norrkoping, SwedenOlsson-Arvidsson, Linda论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Dept Lab Med, Div Clin Genet, Lund, Sweden Off Med Serv, Dept Clin Genet Pathol & Mol Diagnost, Lund, Sweden Linkoping Univ, Dept Hlth Med & Caring Sci, Norrkoping, SwedenPandzic, Tatjana论文数: 0 引用数: 0 h-index: 0机构: Uppsala Univ, Dept Immunol Genet & Pathol, Uppsala, Sweden Linkoping Univ, Dept Hlth Med & Caring Sci, Norrkoping, SwedenStaffas, Anna论文数: 0 引用数: 0 h-index: 0机构: Sahlgrens Univ Hosp, Clin Genet & Genom, Gothenburg, Sweden Linkoping Univ, Dept Hlth Med & Caring Sci, Norrkoping, SwedenRosenquist, Richard论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp, Clin Genet & Genom, Stockholm, Sweden Karolinska Inst, Dept Mol Med & Surg, S-17176 Stockholm, Sweden Linkoping Univ, Dept Hlth Med & Caring Sci, Norrkoping, SwedenLevin, Lars-ake论文数: 0 引用数: 0 h-index: 0机构: Linkoping Univ, Dept Hlth Med & Caring Sci, Norrkoping, Sweden Linkoping Univ, Dept Hlth Med & Caring Sci, Norrkoping, Sweden
- [2] Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencingGENETICS IN MEDICINE, 2015, 17 (06) : 444 - 451Xue, Yuan论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Human Genet, Emory Genet Lab, Atlanta, GA 30322 USA Emory Univ, Dept Human Genet, Emory Genet Lab, Atlanta, GA 30322 USAAnkala, Arunkanth论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Human Genet, Emory Genet Lab, Atlanta, GA 30322 USA Emory Univ, Dept Human Genet, Emory Genet Lab, Atlanta, GA 30322 USAWilcox, William R.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Human Genet, Clin Div, Atlanta, GA 30322 USA Emory Univ, Dept Human Genet, Emory Genet Lab, Atlanta, GA 30322 USAHegde, Madhuri R.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Human Genet, Emory Genet Lab, Atlanta, GA 30322 USA Emory Univ, Dept Human Genet, Emory Genet Lab, Atlanta, GA 30322 USA
- [3] Advancing Pharmacogenomics from Single-Gene to Preemptive TestingANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2022, 23 : 449 - 473Haidar, Cyrine E.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, Dept Pharm & Pharmaceut Sci, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, Dept Pharm & Pharmaceut Sci, 332 N Lauderdale St, Memphis, TN 38105 USACrews, Kristine R.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, Dept Pharm & Pharmaceut Sci, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, Dept Pharm & Pharmaceut Sci, 332 N Lauderdale St, Memphis, TN 38105 USAHoffman, James M.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, Dept Pharm & Pharmaceut Sci, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, Off Qual & Safety, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, Dept Pharm & Pharmaceut Sci, 332 N Lauderdale St, Memphis, TN 38105 USARelling, Mary, V论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, Dept Pharm & Pharmaceut Sci, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, Dept Pharm & Pharmaceut Sci, 332 N Lauderdale St, Memphis, TN 38105 USACaudle, Kelly E.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, Dept Pharm & Pharmaceut Sci, 332 N Lauderdale St, Memphis, TN 38105 USA St Jude Childrens Res Hosp, Dept Pharm & Pharmaceut Sci, 332 N Lauderdale St, Memphis, TN 38105 USA
- [4] Whole-genome sequencing of single circulating tumor cells from neuroendocrine neoplasmsENDOCRINE-RELATED CANCER, 2021, 28 (09) : 631 - 644Childs, Alexa论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Canc Inst, London, England UCL, UCL Canc Inst, London, EnglandSteele, Christopher D.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Canc Inst, London, England UCL, UCL Canc Inst, London, EnglandVesely, Clare论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Canc Inst, London, England UCL, UCL Canc Inst, London, EnglandRizzo, Francesca M.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Canc Inst, London, England UCL, UCL Canc Inst, London, EnglandEnsell, Leah论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Canc Inst, London, England UCL, UCL Canc Inst, London, EnglandLowe, Helen论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Canc Inst, London, England UCL, UCL Canc Inst, London, EnglandDhami, Pawan论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Canc Inst, London, England UCL, UCL Canc Inst, London, EnglandVaikkinen, Heli论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Canc Inst, London, England UCL, UCL Canc Inst, London, EnglandTu Vinh Luong论文数: 0 引用数: 0 h-index: 0机构: Royal Free London NHS Fdn Trust, Dept Histopathol, London, England UCL, UCL Canc Inst, London, EnglandConde, Lucia论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Canc Inst, London, England UCL, UCL Canc Inst, London, EnglandHerrero, Javier论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Canc Inst, London, England UCL, UCL Canc Inst, London, EnglandCaplin, Martyn论文数: 0 引用数: 0 h-index: 0机构: Royal Free London NHS Fdn Trust, Dept Gastroenterol, London, England UCL, UCL Canc Inst, London, EnglandToumpanakis, Christos论文数: 0 引用数: 0 h-index: 0机构: Royal Free London NHS Fdn Trust, Dept Gastroenterol, London, England UCL, UCL Canc Inst, London, EnglandThirlwell, Christina论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Canc Inst, London, England Royal Free London NHS Fdn Trust, Dept Oncol, London, England UCL, UCL Canc Inst, London, EnglandHartley, John A.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Canc Inst, London, England UCL, UCL Canc Inst, London, EnglandPillay, Nischalan论文数: 0 引用数: 0 h-index: 0机构: UCL, Res Dept Pathol, Canc Inst, London, England Royal Natl Orthopaed Hosp NHS Trust, Dept Cellular & Mol Pathol, Stanmore, Middx, England UCL, UCL Canc Inst, London, EnglandMeyer, Tim论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Canc Inst, London, England Royal Free London NHS Fdn Trust, Dept Oncol, London, England UCL, UCL Canc Inst, London, England
- [5] Proficiency testing for bacterial whole genome sequencing in assuring the quality of microbiology diagnostics in clinical and public health laboratoriesPATHOLOGY, 2021, 53 (07) : 902 - 911Lau, Katherine A.论文数: 0 引用数: 0 h-index: 0机构: RCPAQAP Biosecur, 8 Herbert St, St Leonards, NSW 2065, Australia RCPAQAP Biosecur, 8 Herbert St, St Leonards, NSW 2065, Australiada Silva, Anders Goncalves论文数: 0 引用数: 0 h-index: 0机构: Publ Hlth Lab Network PHLN, Communicable Dis Genom Network CDGN, Melbourne, Vic, Australia Univ Melbourne, Microbiol Diagnost Unit, Publ Hlth Lab MDU PHL, Peter Doherty Inst Immun & Infect, Melbourne, Vic, Australia RCPAQAP Biosecur, 8 Herbert St, St Leonards, NSW 2065, AustraliaTheis, Torsten论文数: 0 引用数: 0 h-index: 0机构: RCPAQAP Biosecur, 8 Herbert St, St Leonards, NSW 2065, Australia RCPAQAP Biosecur, 8 Herbert St, St Leonards, NSW 2065, AustraliaGray, Joanna论文数: 0 引用数: 0 h-index: 0机构: RCPAQAP Biosecur, 8 Herbert St, St Leonards, NSW 2065, Australia RCPAQAP Biosecur, 8 Herbert St, St Leonards, NSW 2065, AustraliaBallard, Susan A.论文数: 0 引用数: 0 h-index: 0机构: Publ Hlth Lab Network PHLN, Communicable Dis Genom Network CDGN, Melbourne, Vic, Australia Univ Melbourne, Microbiol Diagnost Unit, Publ Hlth Lab MDU PHL, Peter Doherty Inst Immun & Infect, Melbourne, Vic, Australia RCPAQAP Biosecur, 8 Herbert St, St Leonards, NSW 2065, AustraliaRawlinson, William D.论文数: 0 引用数: 0 h-index: 0机构: Univ NSW, Serol & Virol Div SAViD SEALS Microbiol, NSW Hlth Pathol, SOMS,BABS,Womens & Childrens, Melbourne, Vic, Australia RCPAQAP Biosecur, 8 Herbert St, St Leonards, NSW 2065, Australia
- [6] Whole- genome sequencing of Paracoccus species isolated from the healthy human eye and description of Paracoccus shanxieyensis sp. novINTERNATIONAL JOURNAL OF SYSTEMATIC AND EVOLUTIONARY MICROBIOLOGY, 2023, 73 (04)Dong, Kui论文数: 0 引用数: 0 h-index: 0机构: Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R China Shanxi Med Univ, Dept Epidemiol, Sch Publ Hlth, Taiyuan 030001, Shanxi, Peoples R China Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R ChinaPu, Ji论文数: 0 引用数: 0 h-index: 0机构: Chinese Ctr Dis Control & Prevent, State Key Lab Infect Dis Prevent & Control, Natl Inst Communicable Dis Control & Prevent, Beijing 102206, Peoples R China Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R ChinaYang, Jing论文数: 0 引用数: 0 h-index: 0机构: Chinese Ctr Dis Control & Prevent, State Key Lab Infect Dis Prevent & Control, Natl Inst Communicable Dis Control & Prevent, Beijing 102206, Peoples R China Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R ChinaZhou, Guohong论文数: 0 引用数: 0 h-index: 0机构: Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R China Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R ChinaGao, Yuqian论文数: 0 引用数: 0 h-index: 0机构: Chinese Ctr Dis Control & Prevent, State Key Lab Infect Dis Prevent & Control, Natl Inst Communicable Dis Control & Prevent, Beijing 102206, Peoples R China Shanxi Finance & Taxat Coll, Taiyuan 030002, Peoples R China Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R ChinaKang, Zhiming论文数: 0 引用数: 0 h-index: 0机构: Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R China Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R ChinaLei, Wenjing论文数: 0 引用数: 0 h-index: 0机构: Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R China Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R ChinaJi, Xuan论文数: 0 引用数: 0 h-index: 0机构: Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R China Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R ChinaMin, Guowen论文数: 0 引用数: 0 h-index: 0机构: Shanxi Med Univ, Hosp 1, Taiyuan 030001, Peoples R China Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R ChinaLi, Hong论文数: 0 引用数: 0 h-index: 0机构: Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R China Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R ChinaLi, Junqin论文数: 0 引用数: 0 h-index: 0机构: Taiyuan Cent Hosp, Taiyuan 030002, Peoples R China Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R ChinaSun, Bin论文数: 0 引用数: 0 h-index: 0机构: Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R China Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R ChinaXu, Jianguo论文数: 0 引用数: 0 h-index: 0机构: Chinese Ctr Dis Control & Prevent, State Key Lab Infect Dis Prevent & Control, Natl Inst Communicable Dis Control & Prevent, Beijing 102206, Peoples R China Nankai Univ, Inst Publ Hlth, Tianjin, Peoples R China Chinese Acad Med Sci, Res Units Discovery Unknown Bacteria & Funct, Beijing, Peoples R China Shanxi Eye Hosp, Shanxi Prov Key Lab Ophthalmol, Taiyuan 030002, Peoples R China
- [7] Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencingQJM-AN INTERNATIONAL JOURNAL OF MEDICINE, 2025,Zhang, Hongyun论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R ChinaHe, Jun论文数: 0 引用数: 0 h-index: 0机构: Hunan Normal Univ, Changsha Hosp Maternal & Child Hlth Care, Hunan Prov Key Lab Reg Hereditary Birth Defects Pr, Changsha, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R ChinaTeng, Yanling论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R ChinaShi, Qingxin论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R ChinaLiu, Fang论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R ChinaPeng, Can论文数: 0 引用数: 0 h-index: 0机构: Hunan Normal Univ, Changsha Hosp Maternal & Child Hlth Care, Hunan Prov Key Lab Reg Hereditary Birth Defects Pr, Changsha, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R ChinaLinpeng, Siyuan论文数: 0 引用数: 0 h-index: 0机构: Hunan Normal Univ, Changsha Hosp Maternal & Child Hlth Care, Hunan Prov Key Lab Reg Hereditary Birth Defects Pr, Changsha, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R ChinaLiu, Yingdi论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R ChinaZhu, Huimin论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R ChinaWen, Juan论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R ChinaLiang, Desheng论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R China Hunan Jiahui Genet Hosp, Lab Mol Genet, Changsha, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R ChinaLi, Zhuo论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R ChinaWu, Lingqian论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R China Hunan Jiahui Genet Hosp, Lab Mol Genet, Changsha, Hunan, Peoples R China Cent South Univ, Ctr Med Genet, Sch Life Sci, Hunan Key Lab Med Genet,MOE Key Lab Rare Pediat Di, Changsha, Hunan, Peoples R China
- [8] Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East AsiaJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 2024, 39 (05) : 964 - 974Hahn, Jong Woo论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Pediat, Seoul, South Korea Seoul Natl Univ, Bundang Hosp, Dept Pediat, Seongnam, South Korea Seoul Natl Univ, Coll Med, Dept Pediat, Seoul, South KoreaLee, Heerah论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul, South Korea Seoul Natl Univ, Coll Med, Dept Pediat, Seoul, South KoreaShin, Minsoo论文数: 0 引用数: 0 h-index: 0机构: Korea Univ, Coll Med, Dept Pediat, Seoul, South Korea Seoul Natl Univ, Coll Med, Dept Pediat, Seoul, South KoreaSeong, Moon Woo论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul, South Korea Seoul Natl Univ, Coll Med, Dept Pediat, Seoul, South KoreaMoon, Jin Soo论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Pediat, Seoul, South Korea Seoul Natl Univ, Coll Med, Dept Pediat, Seoul, South KoreaKo, Jae Sung论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Pediat, Seoul, South Korea Seoul Natl Univ, Childrens Hosp, Dept Pediat, Coll Med, 101 Daehak Ro, Seoul 03080, South Korea Seoul Natl Univ, Coll Med, Dept Pediat, Seoul, South Korea
- [9] Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease GenePLOS GENETICS, 2010, 6 (06): : 1 - 6Sobreira, Nara L. M.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USA Johns Hopkins Univ, Sch Med, Predoctoral Training Program Human Genet, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USACirulli, Elizabeth T.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USAAvramopoulos, Dimitrios论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USA Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USAWohler, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Kennedy Krieger Inst, Dept Cytogenet, Baltimore, MD USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USAOswald, Gretchen L.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USAStevens, Eric L.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USA Johns Hopkins Univ, Sch Med, Predoctoral Training Program Human Genet, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USAGe, Dongliang论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USAShianna, Kevin V.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USASmith, Jason P.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USAMaia, Jessica M.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USAGumbs, Curtis E.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USAPevsner, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA Kennedy Krieger Inst, Dept Neurol, Baltimore, MD USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USAThomas, George论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USA Kennedy Krieger Inst, Dept Cytogenet, Baltimore, MD USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USAValle, David论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USA Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USAHoover-Fong, Julie E.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USA Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, Greenberg Ctr Skeletal Dysplasias, Baltimore, MD 21205 USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USAGoldstein, David B.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC USA Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USA
- [10] A survey of single nucleotide polymorphisms identified from whole-genome sequencing and their functional effect in the porcine genomeANIMAL GENETICS, 2017, 48 (04) : 404 - 411Keel, B. N.论文数: 0 引用数: 0 h-index: 0机构: ARS, USDA, US Meat Anim Res Ctr, Clay Ctr, NE 68933 USA ARS, USDA, US Meat Anim Res Ctr, Clay Ctr, NE 68933 USANonneman, D. J.论文数: 0 引用数: 0 h-index: 0机构: ARS, USDA, US Meat Anim Res Ctr, Clay Ctr, NE 68933 USA ARS, USDA, US Meat Anim Res Ctr, Clay Ctr, NE 68933 USARohrer, G. A.论文数: 0 引用数: 0 h-index: 0机构: ARS, USDA, US Meat Anim Res Ctr, Clay Ctr, NE 68933 USA ARS, USDA, US Meat Anim Res Ctr, Clay Ctr, NE 68933 USA