共 50 条
- [41] Disease gene identification by exome sequencingMEDIZINISCHE GENETIK, 2012, 24 (01) : 4 - +Neveling, K.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr Nijmegen, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr Nijmegen, Dept Human Genet, NL-6500 HB Nijmegen, NetherlandsHoischen, A.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr Nijmegen, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Radboud Univ Nijmegen, Med Ctr Nijmegen, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
- [42] WHOLE EXOME SEQUENCING IDENTIFIES GENETIC CAUSE OF HISTIOCYTOID CARDIOMYOPATHYHEART, 2016, 102 : A138 - A139Rea, Gillian论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, England Royal Brompton & Harefield NHS Fdn Trust, London, England Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, EnglandHomfray, Tessa论文数: 0 引用数: 0 h-index: 0机构: Royal Brompton & Harefield NHS Fdn Trust, London, England Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, EnglandTill, Jan论文数: 0 引用数: 0 h-index: 0机构: Royal Brompton & Harefield NHS Fdn Trust, London, England Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, EnglandRoses-Noguer, Ferran论文数: 0 引用数: 0 h-index: 0机构: Royal Brompton & Harefield NHS Fdn Trust, London, England Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, EnglandBuchan, Rachel J.论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, England Royal Brompton & Harefield NHS Fdn Trust, London, England Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, EnglandWilkinson, Sam论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, England Royal Brompton & Harefield NHS Fdn Trust, London, England Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, England论文数: 引用数: h-index:机构:McKee, Shane论文数: 0 引用数: 0 h-index: 0机构: Northern Ireland Reg Genet Serv, Belfast, Antrim, North Ireland Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, EnglandStewart, Fiona J.论文数: 0 引用数: 0 h-index: 0机构: Northern Ireland Reg Genet Serv, Belfast, Antrim, North Ireland Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, EnglandMurday, Victoria论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Univ Hosp, Lab Med, Dept Clin Genet, Glasgow, Lanark, Scotland Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, EnglandTaylor, Robert W.论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, EnglandBaksi, A. John论文数: 0 引用数: 0 h-index: 0机构: Royal Brompton & Harefield NHS Fdn Trust, London, England Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, EnglandPrasad, Sanjay K.论文数: 0 引用数: 0 h-index: 0机构: Royal Brompton & Harefield NHS Fdn Trust, London, England Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, EnglandBarton, Paul J. R.论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, England Royal Brompton & Harefield NHS Fdn Trust, London, England Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, EnglandWare, James S.论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, England Royal Brompton & Harefield NHS Fdn Trust, London, England Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, EnglandCook, Stuart A.论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, England
- [43] Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated CardiomyopathyJOURNAL OF THE AMERICAN HEART ASSOCIATION, 2020, 9 (02):论文数: 引用数: h-index:机构:Wallis, Mathew论文数: 0 引用数: 0 h-index: 0机构: Austin Hlth, Dept Genet, Heidelberg, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaMacciocca, Ivan论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Flemington, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaLynch, Elly论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Flemington, Vic, Australia Melbourne Genom Hlth Alliance, Melbourne, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Heidelberg, Vic, Australia论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Phelan, Dean论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Flemington, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaChong, Belinda论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Flemington, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaLockwood, Siobhan论文数: 0 引用数: 0 h-index: 0机构: Monash Univ, Monash Cardiovasc Res Ctr, Melbourne, Vic, Australia Monash Univ, Monash Heart, Melbourne, Vic, Australia Monash Hlth, Melbourne, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaWeintraub, Robert论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Flemington, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaThompson, Tina论文数: 0 引用数: 0 h-index: 0机构: Melbourne Hlth, Genet Med, Parkville, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaTrainer, Alison论文数: 0 引用数: 0 h-index: 0机构: Melbourne Hlth, Genet Med, Parkville, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Heidelberg, Vic, Australia论文数: 引用数: h-index:机构:Vohra, Jitendra论文数: 0 引用数: 0 h-index: 0机构: Melbourne Hlth, Dept Cardiol, Parkville, Vic, Australia Melbourne Hlth, Genet Med, Parkville, Vic, Australia Univ Melbourne, Royal Melbourne Hosp, Sch Clin, Fac Med Dent & Hlth Sci, Parkville, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaChetrit, Michael论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Ctr Hlth, Montreal, PQ, Canada Univ Melbourne, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaHare, David L.论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Austin Hlth, Dept Med, Heidelberg, Vic, Australia Austin Hlth, Dept Cardiol, 145 Studley Rd, Heidelberg, Vic 3084, Australia Univ Melbourne, Austin Hlth, Dept Med, Heidelberg, Vic, AustraliaJames, Paul论文数: 0 引用数: 0 h-index: 0机构: Melbourne Hlth, Genet Med, Parkville, Vic, Australia Univ Melbourne, Austin Hlth, Dept Med, Heidelberg, Vic, Australia
- [44] Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathyScientific Reports, 7Grażyna T. Truszkowska论文数: 0 引用数: 0 h-index: 0机构: Institute of Cardiology,Molecular Biology Laboratory, Department of Medical BiologyZofia T. Bilińska论文数: 0 引用数: 0 h-index: 0机构: Institute of Cardiology,Molecular Biology Laboratory, Department of Medical BiologyAngelika Muchowicz论文数: 0 引用数: 0 h-index: 0机构: Institute of Cardiology,Molecular Biology Laboratory, Department of Medical BiologyAgnieszka Pollak论文数: 0 引用数: 0 h-index: 0机构: Institute of Cardiology,Molecular Biology Laboratory, Department of Medical BiologyAnna Biernacka论文数: 0 引用数: 0 h-index: 0机构: Institute of Cardiology,Molecular Biology Laboratory, Department of Medical BiologyKatarzyna Kozar-Kamińska论文数: 0 引用数: 0 h-index: 0机构: Institute of Cardiology,Molecular Biology Laboratory, Department of Medical BiologyPiotr Stawiński论文数: 0 引用数: 0 h-index: 0机构: Institute of Cardiology,Molecular Biology Laboratory, Department of Medical BiologyPiotr Gasperowicz论文数: 0 引用数: 0 h-index: 0机构: Institute of Cardiology,Molecular Biology Laboratory, Department of Medical BiologyJoanna Kosińska论文数: 0 引用数: 0 h-index: 0机构: Institute of Cardiology,Molecular Biology Laboratory, Department of Medical BiologyTomasz Zieliński论文数: 0 引用数: 0 h-index: 0机构: Institute of Cardiology,Molecular Biology Laboratory, Department of Medical BiologyRafał Płoski论文数: 0 引用数: 0 h-index: 0机构: Institute of Cardiology,Molecular Biology Laboratory, Department of Medical Biology
- [45] Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathySCIENTIFIC REPORTS, 2017, 7Truszkowska, Grazyna T.论文数: 0 引用数: 0 h-index: 0机构: Inst Cardiol, Dept Med Biol, Mol Biol Lab, Warsaw, Poland Inst Cardiol, Dept Med Biol, Mol Biol Lab, Warsaw, PolandBilinska, Zofia T.论文数: 0 引用数: 0 h-index: 0机构: Inst Cardiol, Unit Screening Studies Inherited Cardiovasc Dis, Warsaw, Poland Inst Cardiol, Dept Med Biol, Mol Biol Lab, Warsaw, Poland论文数: 引用数: h-index:机构:Pollak, Agnieszka论文数: 0 引用数: 0 h-index: 0机构: Inst Physiol & Pathol Hearing, Dept Genet, Warsaw, Poland Inst Cardiol, Dept Med Biol, Mol Biol Lab, Warsaw, PolandBiernacka, Anna论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Warsaw, Poland Postgrad Sch Mol Med, Warsaw, Poland Inst Cardiol, Dept Med Biol, Mol Biol Lab, Warsaw, PolandKozar-Kaminska, Katarzyna论文数: 0 引用数: 0 h-index: 0机构: Inst Cardiol, Immunol Lab, Dept Med Biol, Warsaw, Poland Inst Cardiol, Dept Med Biol, Mol Biol Lab, Warsaw, Poland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:Zielinski, Tomasz论文数: 0 引用数: 0 h-index: 0机构: Inst Cardiol, Dept Heart Failure & Transplantol, Warsaw, Poland Inst Cardiol, Dept Med Biol, Mol Biol Lab, Warsaw, PolandPloski, Rafal论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Warsaw, Poland Inst Cardiol, Dept Med Biol, Mol Biol Lab, Warsaw, Poland
- [46] Evaluation of whole exome sequencing by targeted gene sequencing and Sanger sequencingCLINICA CHIMICA ACTA, 2017, 471 : 222 - 232Chang, Ya-Sian论文数: 0 引用数: 0 h-index: 0机构: China Med Univ Hosp, Epigenome Res Ctr, 2 Yuh Der Rd, Taichung 404, Taiwan China Med Univ Hosp, Dept Lab Med, Taichung, Taiwan China Med Univ, Dept Med Lab Sci & Biotechnol, Taichung, Taiwan China Med Univ Hosp, Epigenome Res Ctr, 2 Yuh Der Rd, Taichung 404, TaiwanHuang, Hsien-Da论文数: 0 引用数: 0 h-index: 0机构: Natl Chiao Tung Univ, Dept Biol Sci & Technol, Hsinchu, Taiwan Natl Chiao Tung Univ, Inst Bioinformat & Syst Biol, Hsinchu, Taiwan China Med Univ Hosp, Epigenome Res Ctr, 2 Yuh Der Rd, Taichung 404, TaiwanYeh, Kun-Tu论文数: 0 引用数: 0 h-index: 0机构: Changhua Christian Hosp, Dept Pathol, Changhua, Taiwan China Med Univ Hosp, Epigenome Res Ctr, 2 Yuh Der Rd, Taichung 404, Taiwan论文数: 引用数: h-index:机构:
- [47] Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese PatientsPediatric Cardiology, 2019, 40 : 950 - 957Genyin Dai论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Nanjing Medical University,Department of CardiologyZhening Pu论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Nanjing Medical University,Department of CardiologyXueying Cheng论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Nanjing Medical University,Department of CardiologyJie Yin论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Nanjing Medical University,Department of CardiologyJun Chen论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Nanjing Medical University,Department of CardiologyTing Xu论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Nanjing Medical University,Department of CardiologyHan Zhang论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Nanjing Medical University,Department of CardiologyZewei Li论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Nanjing Medical University,Department of CardiologyXuan Chen论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Nanjing Medical University,Department of CardiologyJinlong Chen论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Nanjing Medical University,Department of CardiologyYuming Qin论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Nanjing Medical University,Department of CardiologyShiwei Yang论文数: 0 引用数: 0 h-index: 0机构: Children’s Hospital of Nanjing Medical University,Department of Cardiology
- [48] Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese PatientsPEDIATRIC CARDIOLOGY, 2019, 40 (05) : 950 - 957Dai, Genyin论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R ChinaPu, Zhening论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Wuxi Peoples Hosp, Ctr Clin Res, Wuxi 214023, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R ChinaCheng, Xueying论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R ChinaYin, Jie论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R ChinaChen, Jun论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Echocardiog, Nanjing 210008, Jiangsu, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R ChinaXu, Ting论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R ChinaZhang, Han论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R ChinaLi, Zewei论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R ChinaChen, Xuan论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R ChinaChen, Jinlong论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R ChinaQin, Yuming论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R ChinaYang, Shiwei论文数: 0 引用数: 0 h-index: 0机构: Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R China Nanjing Med Univ, Childrens Hosp, Dept Cardiol, 72 Guangzhou Rd, Nanjing 210008, Jiangsu, Peoples R China
- [49] Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemiaBMC CANCER, 2013, 13Chang, Vivian Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Pediat, Div Hematol Oncol, Los Angeles, CA 90095 USA Univ Calif Los Angeles, Dept Pediat, Div Hematol Oncol, Los Angeles, CA 90095 USABasso, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Woman & Child Hlth Dept, I-335128 Padua, Italy Univ Calif Los Angeles, Dept Pediat, Div Hematol Oncol, Los Angeles, CA 90095 USASakamoto, Kathleen M.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Dept Pediat, Div Hematol Oncol, Stanford, CA 94305 USA Univ Calif Los Angeles, Dept Pediat, Div Hematol Oncol, Los Angeles, CA 90095 USANelson, Stanley F.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Human Genet Pathol & Lab Med, Los Angeles, CA 90095 USA Univ Calif Los Angeles, Dept Pediat, Div Hematol Oncol, Los Angeles, CA 90095 USA
- [50] Identification of somatic and germline mutations using whole exome sequencing of congenital acute lymphoblastic leukemiaBMC Cancer, 13Vivian Y Chang论文数: 0 引用数: 0 h-index: 0机构: University of California,Department of Pediatrics, Division of HematologyGiuseppe Basso论文数: 0 引用数: 0 h-index: 0机构: University of California,Department of Pediatrics, Division of HematologyKathleen M Sakamoto论文数: 0 引用数: 0 h-index: 0机构: University of California,Department of Pediatrics, Division of HematologyStanley F Nelson论文数: 0 引用数: 0 h-index: 0机构: University of California,Department of Pediatrics, Division of Hematology