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- [22] Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disordersACTA NEUROPATHOLOGICA, 2013, 125 (02) : 173 - 185Vasli, Nasim论文数: 0 引用数: 0 h-index: 0机构: IGBMC Inst Genet & Biol Mol & Cellulaire, F-67404 Illkirch Graffenstaden, France INSERM, U964, Illkirch Graffenstaden, France CNRS, UMR7104, Illkirch Graffenstaden, France Univ Strasbourg, Illkirch Graffenstaden, France Chaire Genet Humaine, Coll France, Illkirch Graffenstaden, France IGBMC Inst Genet & Biol Mol & Cellulaire, F-67404 Illkirch Graffenstaden, FranceLaporte, Jocelyn论文数: 0 引用数: 0 h-index: 0机构: IGBMC Inst Genet & Biol Mol & Cellulaire, F-67404 Illkirch Graffenstaden, France INSERM, U964, Illkirch Graffenstaden, France CNRS, UMR7104, Illkirch Graffenstaden, France Univ Strasbourg, Illkirch Graffenstaden, France Chaire Genet Humaine, Coll France, Illkirch Graffenstaden, France IGBMC Inst Genet & Biol Mol & Cellulaire, F-67404 Illkirch Graffenstaden, France
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- [25] Single tube long fragment read (stLFR) with massively parallel sequencing achieved patient-only haplotyping for preimplantation genetic testing of monogenic disordersHUMAN REPRODUCTION, 2020, 35 : 78 - 78Chen, S.论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Reprod Genet Dept, Int Peace Matern & Child Hlth Hosp, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Reprod Genet Dept, Int Peace Matern & Child Hlth Hosp, Sch Med, Shanghai, Peoples R ChinaCheng, X.论文数: 0 引用数: 0 h-index: 0机构: MGI BGI Shenzhen, R&D Ctr, Shenzhen, Peoples R China Shanghai Jiao Tong Univ, Reprod Genet Dept, Int Peace Matern & Child Hlth Hosp, Sch Med, Shanghai, Peoples R ChinaChen, D.论文数: 0 引用数: 0 h-index: 0机构: MGI BGI Shenzhen, R&D Ctr, Shenzhen, Peoples R China Shanghai Jiao Tong Univ, Reprod Genet Dept, Int Peace Matern & Child Hlth Hosp, Sch Med, Shanghai, Peoples R ChinaYan, H.论文数: 0 引用数: 0 h-index: 0机构: MGI BGI Shenzhen, R&D Ctr, Shenzhen, Peoples R China Shanghai Jiao Tong Univ, Reprod Genet Dept, Int Peace Matern & Child Hlth Hosp, Sch Med, Shanghai, Peoples R ChinaXia, J.论文数: 0 引用数: 0 h-index: 0机构: MGI BGI Shenzhen, R&D Ctr, Shenzhen, Peoples R China Shanghai Jiao Tong Univ, Reprod Genet Dept, Int Peace Matern & Child Hlth Hosp, Sch Med, Shanghai, Peoples R ChinaLiu, P.论文数: 0 引用数: 0 h-index: 0机构: MGI BGI Shenzhen, R&D Ctr, Shenzhen, Peoples R China Shanghai Jiao Tong Univ, Reprod Genet Dept, Int Peace Matern & Child Hlth Hosp, Sch Med, Shanghai, Peoples R ChinaYin, X.论文数: 0 引用数: 0 h-index: 0机构: MGI BGI Shenzhen, R&D Ctr, Shenzhen, Peoples R China Shanghai Jiao Tong Univ, Reprod Genet Dept, Int Peace Matern & Child Hlth Hosp, Sch Med, Shanghai, Peoples R ChinaChen, F.论文数: 0 引用数: 0 h-index: 0机构: MGI BGI Shenzhen, R&D Ctr, Shenzhen, Peoples R China Shanghai Jiao Tong Univ, Reprod Genet Dept, Int Peace Matern & Child Hlth Hosp, Sch Med, Shanghai, Peoples R ChinaXu, C.论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Reprod Genet Dept, Int Peace Matern & Child Hlth Hosp, Sch Med, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Reprod Genet Dept, Int Peace Matern & Child Hlth Hosp, Sch Med, Shanghai, Peoples R China
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- [30] Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesNPJ GENOMIC MEDICINE, 2017, 2Schofield, Deborah论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Pharm, Sydney, NSW, Australia Murdoch Childrens Res Inst, Melbourne, Vic, Australia Garvan Inst Med Res, Darlinghurst, NSW, Australia Univ Sydney, Fac Pharm, Sydney, NSW, AustraliaAlam, Khurshid论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Fac Med, Melbourne, Vic, Australia Univ Sydney, Fac Pharm, Sydney, NSW, AustraliaDouglas, Lyndal论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Dept Clin Genet, Locked Bag 4001, Sydney, NSW, Australia Childrens Hosp Westmead, Kids Res Inst, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Sydney, Fac Pharm, Sydney, NSW, AustraliaShrestha, Rupendra论文数: 0 引用数: 0 h-index: 0机构: Univ Sydney, Fac Pharm, Sydney, NSW, Australia Univ Sydney, Fac Pharm, Sydney, NSW, AustraliaMacArthur, Daniel G.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA USA Broad Inst Harvard & MIT, Program Med & Populat Genet, Cambridge, MA USA Univ Sydney, Fac Pharm, Sydney, NSW, AustraliaDavis, Mark论文数: 0 引用数: 0 h-index: 0机构: QEII Med Ctr, PathWest Lab Med, Dept Diagnost Genom, Nedlands, WA, Australia Univ Sydney, Fac Pharm, Sydney, NSW, AustraliaLaing, Nigel G.论文数: 0 引用数: 0 h-index: 0机构: QEII Med Ctr, PathWest Lab Med, Dept Diagnost Genom, Nedlands, WA, Australia Univ Western Australia, Harry Perkins Inst Med Res, Ctr Med Res, Nedlands, WA, Australia Univ Sydney, Fac Pharm, Sydney, NSW, AustraliaClarke, Nigel F.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Kids Res Inst, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW, Australia Univ Sydney, Fac Pharm, Sydney, NSW, AustraliaBurns, Joshua论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Kids Res Inst, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW, Australia Univ Sydney, Sydney Childrens Hosp Network Randwick, Sydney, NSW, Australia Univ Sydney, Sydney Childrens Hosp Network Westmead, Sydney, NSW, Australia Univ Sydney, Fac Pharm, Sydney, NSW, AustraliaCooper, Sandra T.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Kids Res Inst, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW, Australia Univ Sydney, Fac Pharm, Sydney, NSW, AustraliaNorth, Kathryn N.论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Melbourne, Vic, Australia Univ Melbourne, Dept Paediat, Fac Med, Melbourne, Vic, Australia Childrens Hosp Westmead, Kids Res Inst, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Sydney, Fac Pharm, Sydney, NSW, AustraliaSandaradura, Sarah A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Dept Clin Genet, Locked Bag 4001, Sydney, NSW, Australia Childrens Hosp Westmead, Kids Res Inst, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW, Australia Univ Sydney, Fac Pharm, Sydney, NSW, AustraliaO'Grady, Gina L.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Westmead, Kids Res Inst, Inst Neurosci & Muscle Res, Sydney, NSW, Australia Univ Sydney, Fac Med, Discipline Paediat & Child Hlth, Sydney, NSW, Australia Starship Childrens Hlth, Paediat Neuroserv, Auckland, New Zealand Univ Sydney, Fac Pharm, Sydney, NSW, Australia