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- [21] Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing TechnologiesJOURNAL OF CLINICAL MEDICINE, 2022, 11 (10)Barbosa-Gouveia, Sofia论文数: 0 引用数: 0 h-index: 0机构: Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, IDIS Hlth Res Inst Santiago de Compostela, Ctr Invest Biomed Red Enfermedades Raras CIBERER, European Reference Network Hereditary Metab Disor, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainEugenia Vazquez-Mosquera, Maria论文数: 0 引用数: 0 h-index: 0机构: Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, IDIS Hlth Res Inst Santiago de Compostela, Ctr Invest Biomed Red Enfermedades Raras CIBERER, European Reference Network Hereditary Metab Disor, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainGonzalez-Vioque, Emiliano论文数: 0 引用数: 0 h-index: 0机构: Puerta de Hierro Majadahonda Univ Hosp, Dept Clin Biochem, Majadahonda 28222, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainHermida-Ameijeiras, Alvaro论文数: 0 引用数: 0 h-index: 0机构: Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, IDIS Hlth Res Inst Santiago de Compostela, Ctr Invest Biomed Red Enfermedades Raras CIBERER, European Reference Network Hereditary Metab Disor, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainSanchez-Pintos, Paula论文数: 0 引用数: 0 h-index: 0机构: Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, IDIS Hlth Res Inst Santiago de Compostela, Ctr Invest Biomed Red Enfermedades Raras CIBERER, European Reference Network Hereditary Metab Disor, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainJose de Castro, Maria论文数: 0 引用数: 0 h-index: 0机构: Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, IDIS Hlth Res Inst Santiago de Compostela, Ctr Invest Biomed Red Enfermedades Raras CIBERER, European Reference Network Hereditary Metab Disor, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainLeon, Soraya Ramiro论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Getafe, Genet Dept, Madrid 28905, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainGil-Fournier, Belen论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Getafe, Genet Dept, Madrid 28905, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainDominguez-Gonzalez, Cristina论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ 12 Octubre, Imas12 Res Inst, Neuromuscular Unit, Madrid 28041, Spain Inst Salud Carlos III, Ctr Biomed Network Res Rare Dis CIBERER, Madrid 28029, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainCamacho Salas, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Complutense Madrid, Hosp Univ 12 Octubre, Pediat Neurol Unit, Madrid 28041, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainNegrao, Luis论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra, Neurol Serv, Neuromuscular Dis Unit, P-3000075 Coimbra, Portugal Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainFineza, Isabel论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra Coimbra Portugal, Hosp Pediatr, Child Dev Ctr, Pediat Neurol Dept, P-3000075 Coimbra, Portugal Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainLaranjeira, Francisco论文数: 0 引用数: 0 h-index: 0机构: Ctr Genet Med Doutor Jacinto Magalhaes, Biochem Genet Unit, P-4050466 Porto, Portugal Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, SpainLuz Couce, Maria论文数: 0 引用数: 0 h-index: 0机构: Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, IDIS Hlth Res Inst Santiago de Compostela, Ctr Invest Biomed Red Enfermedades Raras CIBERER, European Reference Network Hereditary Metab Disor, Santiago De Compostela 15704, Spain Santiago de Compostela Univ Clin Hosp, Dept Paediat, Unit Diag & Treatment Congenital Metab Dis, Santiago De Compostela 15704, Spain
- [22] Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experienceCLINICAL GENETICS, 2016, 89 (04) : 484 - 488Seong, M. -W.论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South Korea Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South KoreaCho, A.论文数: 0 引用数: 0 h-index: 0机构: Ewha Womans Univ, Coll Med, Dept Pediat, Seoul, South Korea Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South KoreaPark, H. W.论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South Korea Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South KoreaSeo, S. H.论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South Korea Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South KoreaLim, B. C.论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Pediat, Seoul Natl Univ Childrens Hosp, Seoul 110744, South Korea Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South KoreaSeol, D.论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South Korea Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South KoreaCho, S. I.论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South Korea Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South KoreaPark, S. S.论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South Korea Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South KoreaChae, J. H.论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Coll Med, Dept Pediat, Seoul Natl Univ Childrens Hosp, Seoul 110744, South Korea Seoul Natl Univ, Coll Med, Dept Lab Med, Seoul Natl Univ Hosp, Seoul 110744, South Korea
- [23] Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing LossGENETIC TESTING AND MOLECULAR BIOMARKERS, 2024, 28 (08) : 328 - 336Raghuvanshi, Ruchika论文数: 0 引用数: 0 h-index: 0机构: Inst Life Sci, Nalco Sq, Bhubaneswar, India Reg Ctr Biotechnol, Faridabad, India Inst Life Sci, Nalco Sq, Bhubaneswar, IndiaPanda, Khirod Chandra论文数: 0 引用数: 0 h-index: 0机构: Capital Hosp, Ear Nose & Throat ENT Unit, Unit 6, Bhubaneswar, India Shrirama Chandra Bhanja SCB Med Coll & Hosp, Dept Ear Nose & Throat ENT, Cuttack, India Inst Life Sci, Nalco Sq, Bhubaneswar, IndiaRay, Chinmay Sundar论文数: 0 引用数: 0 h-index: 0机构: Shrirama Chandra Bhanja SCB Med Coll & Hosp, Dept Ear Nose & Throat ENT, Cuttack, India Inst Life Sci, Nalco Sq, Bhubaneswar, IndiaRamchander, Puppala Venkat论文数: 0 引用数: 0 h-index: 0机构: Inst Life Sci, Nalco Sq, Bhubaneswar, India Inst Life Sci, Nalco Sq, Bhubaneswar, India
- [24] Analytical Performance of a Highly Sensitive System to Detect Gene Variants Using Next-Generation Sequencing for Lung Cancer Companion DiagnosticsDIAGNOSTICS, 2023, 13 (08)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: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:Kukita, Yoji论文数: 0 引用数: 0 h-index: 0机构: Nara Inst Sci & Technol, Lab Med Genom, Nara 6300192, Japan Osaka Int Canc Inst, Lab Genom Pathol, Osaka 5400008, Japan Nara Inst Sci & Technol, Lab Med Genom, Nara 6300192, JapanNakatsuka, Shin-ichi论文数: 0 引用数: 0 h-index: 0机构: Osaka Int Canc Inst, Dept Diagnost Pathol & Cytol, Osaka 5400008, Japan Nara Inst Sci & Technol, Lab Med Genom, Nara 6300192, JapanHigashiyama, Masahiko论文数: 0 引用数: 0 h-index: 0机构: Osaka Int Canc Inst, Dept Gen Thorac Surg, Osaka 5400008, Japan Higashiosaka City Med Ctr, Dept Thorac Surg, Osaka 5788588, Japan Nara Inst Sci & Technol, Lab Med Genom, Nara 6300192, Japan
- [25] Validation and clinical performance of a combined nuclear-mitochondrial next-generation sequencing and copy number variant analysis panel in a Canadian populationAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (02) : 486 - 499Levy, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Dept Pathol & Lab Med, London, ON, Canada London Hlth Sci Ctr, Mol Diagnost Div, Mol Genet Lab, London, ON, Canada Western Univ, Dept Pathol & Lab Med, London, ON, CanadaKerkhof, Jennifer论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Mol Diagnost Div, Mol Genet Lab, London, ON, Canada Western Univ, Dept Pathol & Lab Med, London, ON, CanadaBelmonte, Frances R.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Ctr Metab & Mitochondrial Med, Div Cardiol, Sch Med, Pittsburgh, PA USA Univ Pittsburgh, Vasc Med Inst, Div Cardiol, Sch Med, Pittsburgh, PA USA Western Univ, Dept Pathol & Lab Med, London, ON, CanadaKaufman, Brett A.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Ctr Metab & Mitochondrial Med, Div Cardiol, Sch Med, Pittsburgh, PA USA Univ Pittsburgh, Vasc Med Inst, Div Cardiol, Sch Med, Pittsburgh, PA USA Western Univ, Dept Pathol & Lab Med, London, ON, CanadaBhai, Pratibha论文数: 0 引用数: 0 h-index: 0机构: London Hlth Sci Ctr, Mol Diagnost Div, Mol Genet Lab, London, ON, Canada Western Univ, Dept Pathol & Lab Med, London, ON, CanadaBrady, Lauren论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Dept Pediat, Div Neuromuscular & Neurometab Dis, Hamilton, ON, Canada Western Univ, Dept Pathol & Lab Med, London, ON, CanadaBursztyn, Lulu L. C. D.论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Dept Ophthalmol, London, ON, Canada Western Univ, Dept Pathol & Lab Med, London, ON, CanadaTarnopolsky, Mark论文数: 0 引用数: 0 h-index: 0机构: McMaster Univ, Dept Pediat, Div Neuromuscular & Neurometab Dis, Hamilton, ON, Canada Western Univ, Dept Pathol & Lab Med, London, ON, CanadaRupar, Tony论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Dept Pathol & Lab Med, London, ON, Canada Western Univ, London Hlth Sci Ctr, Schulich Sch Med & Dent, Dept Biochem, London, ON, Canada Western Univ, London Hlth Sci Ctr, Schulich Sch Med & Dent, Dept Paediat, London, ON, Canada London Hlth Sci Ctr, Mol Diagnost Div, Biochem Genet Lab, London, ON, Canada Western Univ, Dept Pathol & Lab Med, London, ON, CanadaSadikovic, Bekim论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Dept Pathol & Lab Med, London, ON, Canada London Hlth Sci Ctr, Mol Diagnost Div, Mol Genet Lab, London, ON, Canada Western Univ, Dept Pathol & Lab Med, London, ON, Canada
- [26] Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophyJOURNAL OF NEUROLOGY, 2016, 263 (04) : 743 - 750Kuhn, Marius论文数: 0 引用数: 0 h-index: 0机构: Genetikum, Neu Ulm, Germany Univ Ulm, Div Neurophysiol, D-89069 Ulm, Germany Genetikum, Neu Ulm, GermanyGlaeser, Dieter论文数: 0 引用数: 0 h-index: 0机构: Genetikum, Neu Ulm, Germany Genetikum, Neu Ulm, GermanyJoshi, Pushpa Raj论文数: 0 引用数: 0 h-index: 0机构: Univ Halle Wittenberg, Klin & Poliklin Neurol, D-06108 Halle, Germany Genetikum, Neu Ulm, GermanyZierz, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Halle Wittenberg, Klin & Poliklin Neurol, D-06108 Halle, Germany Genetikum, Neu Ulm, GermanyWenninger, Stephan论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Neurol Klin, Friedrich Baur Inst, Munich, Germany Genetikum, Neu Ulm, GermanySchoser, Benedikt论文数: 0 引用数: 0 h-index: 0机构: Univ Munich, Neurol Klin, Friedrich Baur Inst, Munich, Germany Genetikum, Neu Ulm, GermanyDeschauer, Marcus论文数: 0 引用数: 0 h-index: 0机构: Univ Halle Wittenberg, Klin & Poliklin Neurol, D-06108 Halle, Germany Tech Univ Munich, Klinikum Rechts Isar, Klin & Poliklin Neurol, Ismaninger Str 22, D-81675 Munich, Germany Genetikum, Neu Ulm, Germany
- [27] Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophyJournal of Neurology, 2016, 263 : 743 - 750Marius Kuhn论文数: 0 引用数: 0 h-index: 0机构: Genetikum,Division of NeurophysiologyDieter Gläser论文数: 0 引用数: 0 h-index: 0机构: Genetikum,Division of NeurophysiologyPushpa Raj Joshi论文数: 0 引用数: 0 h-index: 0机构: Genetikum,Division of NeurophysiologyStephan Zierz论文数: 0 引用数: 0 h-index: 0机构: Genetikum,Division of NeurophysiologyStephan Wenninger论文数: 0 引用数: 0 h-index: 0机构: Genetikum,Division of NeurophysiologyBenedikt Schoser论文数: 0 引用数: 0 h-index: 0机构: Genetikum,Division of NeurophysiologyMarcus Deschauer论文数: 0 引用数: 0 h-index: 0机构: Genetikum,Division of Neurophysiology
- [28] Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patientsONCOTARGET, 2017, 8 (21) : 35176 - 35183Huang, Hui论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen, Peoples R ChinaWang, Ying论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Shenzhen Eye Hosp, Shenzhen Key Lab Ophthalmol, Shenzhen, Peoples R China Shenzhen Univ, Coll Optoelect Engn, Minist Educ & Guangdong Prov, Key Lab Optoelect Devices & Syst, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen, Peoples R ChinaChen, Huishuang论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen, Peoples R ChinaChen, Yanhua论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China South China Univ Technol, Sch Biosci & Bioengn, Guangzhou, Guangdong, Peoples R China BGI Shenzhen, Shenzhen, Peoples R ChinaWu, Jing论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen, Peoples R ChinaChiang, Pei-Wen论文数: 0 引用数: 0 h-index: 0机构: Casey Eye Inst Mol Diagnost Lab, Portland, OR USA BGI Shenzhen, Shenzhen, Peoples R ChinaFan, Ning论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Shenzhen Eye Hosp, Shenzhen Key Lab Ophthalmol, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen, Peoples R ChinaSu, Yan论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen, Peoples R ChinaDeng, Jianlian论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen, Peoples R ChinaChen, Dongna论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen, Peoples R ChinaLi, Yang论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen, Peoples R ChinaZhang, Xinxin论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China Univ Chinese Acad Sci, BGI Educ Ctr, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen, Peoples R ChinaZhang, Mengxin论文数: 0 引用数: 0 h-index: 0机构: Hong Kong Polytech Univ, Dept Appl Biol Chem Technol, Kowloon, Hong Kong, Peoples R China BGI Shenzhen, Shenzhen, Peoples R ChinaLiang, Shengran论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen, Peoples R ChinaBanerjee, Santasree论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen, Peoples R ChinaQi, Ming论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen, Peoples R China Zhejiang Univ, Sch Basic Med Sci, Hangzhou, Zhejiang, Peoples R China Univ Rochester, Med Ctr, Dept Pathol & Lab Med, Funct Genom Ctr, West Henrietta, NY USA BGI Shenzhen, Shenzhen, Peoples R ChinaLiu, Xuyang论文数: 0 引用数: 0 h-index: 0机构: Jinan Univ, Shenzhen Eye Hosp, Shenzhen Key Lab Ophthalmol, Shenzhen, Peoples R China Shenzhen Univ, Sch Ophthalmol & Optometry, Shenzhen, Peoples R China BGI Shenzhen, Shenzhen, Peoples R China