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- [21] Whole-exome sequencing establishes a diagnosis of Alstrom syndrome: a case reportTRANSLATIONAL PEDIATRICS, 2022, 11 (04) : 589 - 594Liu, Ziqin论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Endocrinol, Capital Inst Pediat, Beijing 100020, Peoples R China Childrens Hosp, Dept Endocrinol, Capital Inst Pediat, Beijing 100020, Peoples R ChinaChen, Xiaobo论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Endocrinol, Capital Inst Pediat, Beijing 100020, Peoples R China Childrens Hosp, Dept Endocrinol, Capital Inst Pediat, Beijing 100020, Peoples R China
- [22] The Application of Whole-Exome Sequencing in Patients With FUOFRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY, 2022, 11Guo, Wanru论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R China Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R ChinaFeng, Xuewen论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R China Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R ChinaHu, Ming论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R China Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R ChinaShangguan, Yanwan论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R China Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R ChinaXia, Jiafeng论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R China Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R ChinaHu, Wenjuan论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R China Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R ChinaLi, Xiaomeng论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R China Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R ChinaZhang, Zunjing论文数: 0 引用数: 0 h-index: 0机构: Lishui Hosp Tradit Chinese Med TCM, Dept Resp Med, Lishui, Peoples R China Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R ChinaShi, Yunzhen论文数: 0 引用数: 0 h-index: 0机构: Dongyang Peoples Hosp, Dept Infect Dis, Dongyang, Peoples R China Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R ChinaXu, Kaijin论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R China Zhejiang Univ, Affiliated Hosp 1, Coll Med,Collaborat Innovat Ctr Diag & Treatment, State Key Lab Diag & Treatment Infect Dis,Natl Cl, Hangzhou, Peoples R China
- [23] Whole-Exome Sequencing of an Exceptional Longevity CohortJOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES, 2019, 74 (09): : 1386 - 1390Nygaard, Haakon B.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Div Neurol, Vancouver, BC, Canada Univ British Columbia, Div Neurol, Vancouver, BC, CanadaErson-Omay, E. Zeynep论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Neurosurg, New Haven, CT USA Univ British Columbia, Div Neurol, Vancouver, BC, CanadaWu, Xiujuan论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Div Neurol, Vancouver, BC, Canada Univ British Columbia, Div Neurol, Vancouver, BC, CanadaKent, Brianne A.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Div Neurol, Vancouver, BC, Canada Univ British Columbia, Div Neurol, Vancouver, BC, CanadaBernales, Cecily Q.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Ctr Appl Neurogenet, Vancouver, BC, Canada Univ British Columbia, Div Neurol, Vancouver, BC, CanadaEvans, Daniel M.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Ctr Appl Neurogenet, Vancouver, BC, Canada Univ British Columbia, Div Neurol, Vancouver, BC, CanadaFarrer, Matthew J.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Ctr Appl Neurogenet, Vancouver, BC, Canada Univ British Columbia, Div Neurol, Vancouver, BC, CanadaVilarino-Guell, Carles论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Ctr Appl Neurogenet, Vancouver, BC, Canada Univ British Columbia, Div Neurol, Vancouver, BC, CanadaStrittmatter, Stephen M.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Program Cellular Neurosci Neurodegenerat & Repair, New Haven, CT USA Univ British Columbia, Div Neurol, Vancouver, BC, Canada
- [24] Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverageSCIENTIFIC REPORTS, 2020, 10 (01)Barbitoff, Yury A.论文数: 0 引用数: 0 h-index: 0机构: Bioinformat Inst, St Petersburg, Russia DO Ott Res Inst Obstet Gynecol & Reprod, Dept Genom Med, St Petersburg, Russia St Petersburg State Univ, Dept Genet & Biotechnol, St Petersburg, Russia Cerbalab LTD, St Petersburg, Russia Bioinformat Inst, St Petersburg, RussiaPolev, Dmitrii E.论文数: 0 引用数: 0 h-index: 0机构: Cerbalab LTD, St Petersburg, Russia Bioinformat Inst, St Petersburg, RussiaGlotov, Andrey S.论文数: 0 引用数: 0 h-index: 0机构: DO Ott Res Inst Obstet Gynecol & Reprod, Dept Genom Med, St Petersburg, Russia St Petersburg State Univ, Inst Translat Biomed, St Petersburg, Russia City Hosp 40, St Petersburg, Russia Immanuel Kant Balt Fed Univ, Inst Living Syst, Kaliningrad, Russia Bioinformat Inst, St Petersburg, RussiaSerebryakova, Elena A.论文数: 0 引用数: 0 h-index: 0机构: DO Ott Res Inst Obstet Gynecol & Reprod, Dept Genom Med, St Petersburg, Russia Bioinformat Inst, St Petersburg, RussiaShcherbakova, Irina V.论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Mol Biol Div, Biomed Ctr, Planegg Martinsried, Germany Bioinformat Inst, St Petersburg, RussiaKiselev, Artem M.论文数: 0 引用数: 0 h-index: 0机构: Almazov Natl Med Res Ctr, St Petersburg, Russia Bioinformat Inst, St Petersburg, RussiaKostareva, Anna A.论文数: 0 引用数: 0 h-index: 0机构: Almazov Natl Med Res Ctr, St Petersburg, Russia Bioinformat Inst, St Petersburg, RussiaGlotov, Oleg S.论文数: 0 引用数: 0 h-index: 0机构: DO Ott Res Inst Obstet Gynecol & Reprod, Dept Genom Med, St Petersburg, Russia Bioinformat Inst, St Petersburg, RussiaPredeus, Alexander V.论文数: 0 引用数: 0 h-index: 0机构: Bioinformat Inst, St Petersburg, Russia Bioinformat Inst, St Petersburg, Russia
- [25] Comparison of actionable events detected in cancer genomes by whole-genome sequencing, in silico whole-exome and mutation panelsESMO OPEN, 2022, 7 (04)Ramarao-Milne, P.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia Commonwealth Sci & Ind Res Org, Australian E Halth Res Ctr, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaKondrashova, O.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaPatch, A. -M.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaNones, K.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaKoufariotis, L. T.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaNewell, F.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaAddala, V.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaLakis, V.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaHolmes, O.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaLeonard, C.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaWood, S.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaXu, Q.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaMukhopadhyay, P.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaNaeini, M. M.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaSteinfort, D.论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Dept Thorac Med, Melbourne, Vic, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaWilliamson, J. P.论文数: 0 引用数: 0 h-index: 0机构: Liverpool Hosp Sydney, Dept Thorac Med, Sydney, NSW, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaBint, M.论文数: 0 引用数: 0 h-index: 0机构: Sunshine Coast Univ Hosp, Dept Thorac Med, Birtinya, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaPahoff, C.论文数: 0 引用数: 0 h-index: 0机构: Gold Coast Univ Hosp, Dept Resp Med, Southport, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaNguyen, P. T.论文数: 0 引用数: 0 h-index: 0机构: Royal Adelaide Hosp, Dept Thorac Med, Adelaide, SA, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaTwaddell, S.论文数: 0 引用数: 0 h-index: 0机构: John Hunter Hosp, Dept Resp & Sleep Med, Newcastle, NSW, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaArnold, D.论文数: 0 引用数: 0 h-index: 0机构: John Hunter Hosp, Dept Resp & Sleep Med, Newcastle, NSW, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaGrainge, C.论文数: 0 引用数: 0 h-index: 0机构: John Hunter Hosp, Dept Resp & Sleep Med, Newcastle, NSW, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaBasirzadeh, F.论文数: 0 引用数: 0 h-index: 0机构: Royal Brisbane & Womens Hosp, Dept Thorac Med, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaFielding, D.论文数: 0 引用数: 0 h-index: 0机构: Royal Brisbane & Womens Hosp, Dept Thorac Med, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaDalley, A. J.论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Fac Med, UQ Ctr Clin Res, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaChittoory, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Fac Med, UQ Ctr Clin Res, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaSimpson, P. T.论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Fac Med, UQ Ctr Clin Res, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaAoude, L. G.论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Fac Med, Diamantina Inst, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaBonazzi, V. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Fac Med, Diamantina Inst, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaPatel, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Fac Med, Diamantina Inst, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaBarbour, A. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Fac Med, Diamantina Inst, Brisbane, Qld, Australia Princess Alexandra Hosp, Dept Surg, Upper Gastrointestinal Surg Unit, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaFennell, D. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Leicester, Canc Res UK Ctr Leicester, Leicester, Leics, England Univ Hosp Leicester NHS Trust, Leicester, Leics, England QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaRobinson, B. W.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Inst Resp Hlth, Natl Ctr Asbestos Related Dis, Nedlands, WA, Australia Sir Charles Gairdner Hosp, Dept Resp Med, Nedlands, WA, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaCreaney, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Inst Resp Hlth, Natl Ctr Asbestos Related Dis, Nedlands, WA, Australia Sir Charles Gairdner Hosp, Dept Resp Med, Nedlands, WA, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaHollway, G.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaPearson, J. V.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, AustraliaWaddell, N.论文数: 0 引用数: 0 h-index: 0机构: QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia QIMR Berghofer Med Res Inst, Canc Program, Brisbane, Qld, Australia
- [26] Whole-exome sequencing study of hypospadiasISCIENCE, 2023, 26 (05)Chen, Zhongzhong论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Urol, Shanghai 200062, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Urogenital Dev Res Ctr, Sch Med, Shanghai 200062, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Urol, Shanghai 200062, Peoples R ChinaLei, Yunping论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Ctr Precis Environm Hlth, Dept Mol & Cellular Biol, Houston, TX 77030 USA Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Urol, Shanghai 200062, Peoples R ChinaFinnell, Richard H.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Ctr Precis Environm Hlth, Dept Mol & Cellular Biol, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Med, Houston, TX 77030 USA Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Urol, Shanghai 200062, Peoples R ChinaDing, Yu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Urol, Shanghai 200062, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Urol, Shanghai 200062, Peoples R ChinaSu, Zhixi论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Sch Life Sci, Shanghai 200438, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Urol, Shanghai 200062, Peoples R ChinaWang, Yaping论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Urol, Shanghai 200062, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Urol, Shanghai 200062, Peoples R ChinaXie, Hua论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Urol, Shanghai 200062, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Urol, Shanghai 200062, Peoples R ChinaChen, Fang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Urol, Shanghai 200062, Peoples R China Shanghai Jiao Tong Univ, Sch Med, Clin Res Ctr Hypospadias Pediat Coll, Shanghai 200062, Peoples R China Shanghai Jiao Tong Univ, Shanghai Childrens Hosp, Sch Med, Dept Urol, Shanghai 200062, Peoples R China
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