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- [21] Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinomaCANCER RESEARCH, 2011, 71Varela, Ignacio论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandTarpey, Patrick论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandRaine, Keiran论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandHuang, Dachuan论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Ctr, Singapore, Singapore Wellcome Trust Sanger Inst, Hinxton, EnglandOng, Choon Kiat论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Ctr, Singapore, Singapore Wellcome Trust Sanger Inst, Hinxton, EnglandStephens, Philip论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandDavies, Helen论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandJones, David论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandLin, Meng-Lay论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandTeague, Jon论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandBignell, Graham论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandButler, Adam论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandCho, Juok论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandDalgliesh, Gillian L.论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandGalappaththige, Danushka论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandGreenman, Chris论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandHardy, Claire论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandJia, Mingming论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandLatimer, Calli论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandLau, King Wai论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandMarshall, John论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandMcLaren, Stuart论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandMenzies, Andrew论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandMudie, Laura论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandStebbings, Lucy论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandLargaespada, David A.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Minneapolis, MI USA Wellcome Trust Sanger Inst, Hinxton, EnglandWessels, L. F. A.论文数: 0 引用数: 0 h-index: 0机构: 4Genet Oncol EPHE INSERM U753, Le Kremlin Bicetre, France Univ Paris 11, Fac Med, Le Kremlin Bicetre, France Inst Cancerol Gustave Roussy, Villejuif, France Wellcome Trust Sanger Inst, Hinxton, EnglandRichard, Stephane论文数: 0 引用数: 0 h-index: 0机构: Inst Cancerol Gustave Roussy, Villejuif, France Wellcome Trust Sanger Inst, Hinxton, EnglandKahnoski, Richard J.论文数: 0 引用数: 0 h-index: 0机构: Spectrum Hlth Hosp, Grand Rapids, MI USA Wellcome Trust Sanger Inst, Hinxton, EnglandAnema, John论文数: 0 引用数: 0 h-index: 0机构: Spectrum Hlth Hosp, Grand Rapids, MI USA Wellcome Trust Sanger Inst, Hinxton, EnglandTuveson, David论文数: 0 引用数: 0 h-index: 0机构: Canc Res UK, Cambridge Res Inst, Cambridge, England Wellcome Trust Sanger Inst, Hinxton, EnglandPerez-Mancera, Pedro论文数: 0 引用数: 0 h-index: 0机构: Canc Res UK, Cambridge Res Inst, Cambridge, England Wellcome Trust Sanger Inst, Hinxton, EnglandMustonen, Ville论文数: 0 引用数: 0 h-index: 0机构: Canc Res UK, Cambridge Res Inst, Cambridge, England Wellcome Trust Sanger Inst, Hinxton, EnglandFischer, Andrej论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Univ Cologne, Theoret Phys 9Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandAdams, David J.论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandRust, Alistair论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandChan-on, Waraporn论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Ctr, Singapore, Singapore Wellcome Trust Sanger Inst, Hinxton, EnglandSubimerb, Chutima论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Ctr, Singapore, Singapore Wellcome Trust Sanger Inst, Hinxton, EnglandDykema, Karl论文数: 0 引用数: 0 h-index: 0机构: Van Andel Res Inst, Grand Rapids, MI USA Wellcome Trust Sanger Inst, Hinxton, EnglandFurge, Kyle A.论文数: 0 引用数: 0 h-index: 0机构: Van Andel Res Inst, Grand Rapids, MI USA Wellcome Trust Sanger Inst, Hinxton, EnglandCampbell, Peter J.论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandTeh, Bin Tean论文数: 0 引用数: 0 h-index: 0机构: Van Andel Res Inst, Grand Rapids, MI USA Wellcome Trust Sanger Inst, Hinxton, EnglandStratton, Michael R.论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, EnglandFutreal, P. Andrew论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Hinxton, England Wellcome Trust Sanger Inst, Hinxton, England
- [22] Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinomaNature, 2011, 469 : 539 - 542Ignacio Varela论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyPatrick Tarpey论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyKeiran Raine论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyDachuan Huang论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyChoon Kiat Ong论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyPhilip Stephens论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyHelen Davies论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyDavid Jones论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyMeng-Lay Lin论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyJon Teague论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyGraham Bignell论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyAdam Butler论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyJuok Cho论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyGillian L. Dalgliesh论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyDanushka Galappaththige论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyChris Greenman论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyClaire Hardy论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyMingming Jia论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyCalli Latimer论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyKing Wai Lau论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyJohn Marshall论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyStuart McLaren论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyAndrew Menzies论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyLaura Mudie论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyLucy Stebbings论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyDavid A. Largaespada论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyL. F. A. Wessels论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyStephane Richard论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyRichard J. Kahnoski论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyJohn Anema论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyDavid A.Tuveson论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyPedro A. Perez-Mancera论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyVille Mustonen论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyAndrej Fischer论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyDavid J. Adams论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyAlistair Rust论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyWaraporn Chan-on论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyChutima Subimerb论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyKarl Dykema论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyKyle Furge论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyPeter J. Campbell论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyBin Tean Teh论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyMichael R. Stratton论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular BiologyP. Andrew Futreal论文数: 0 引用数: 0 h-index: 0机构: Cancer Genome Project,Department of Molecular Biology
- [23] Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathyEUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (01)Li, Kun论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Dept Pediat, Wuhan 430022, Peoples R China Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Dept Pediat, Wuhan 430022, Peoples R ChinaJin, Runming论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Dept Pediat, Wuhan 430022, Peoples R China Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Dept Pediat, Wuhan 430022, Peoples R ChinaWu, Xiaoyan论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Dept Pediat, Wuhan 430022, Peoples R China Huazhong Univ Sci & Technol, Union Hosp, Tongji Med Coll, Dept Pediat, Wuhan 430022, Peoples R China
- [24] Whole exome sequencing identifies compound heterozygous variants of CR2 gene in monozygotic twin patients with common variable immunodeficiencySAGE OPEN MEDICINE, 2020, 8Ripen, Adiratna Mat论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Inst Med Res, Primary Immunodeficiency Unit, Allergy & Immunol Res Ctr, Kuala Lumpur, Malaysia Minist Hlth, Inst Med Res, Primary Immunodeficiency Unit, Allergy & Immunol Res Ctr, Kuala Lumpur, MalaysiaGhani, Hamidah论文数: 0 引用数: 0 h-index: 0机构: Univ Malaya, Fac Sci, Inst Biol Sci, Kuala Lumpur 50603, Malaysia Minist Hlth, Inst Med Res, Primary Immunodeficiency Unit, Allergy & Immunol Res Ctr, Kuala Lumpur, MalaysiaChear, Chai Teng论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Inst Med Res, Primary Immunodeficiency Unit, Allergy & Immunol Res Ctr, Kuala Lumpur, Malaysia Minist Hlth, Inst Med Res, Primary Immunodeficiency Unit, Allergy & Immunol Res Ctr, Kuala Lumpur, MalaysiaChiow, Mei Yee论文数: 0 引用数: 0 h-index: 0机构: Univ Malaya, Fac Sci, Inst Biol Sci, Kuala Lumpur 50603, Malaysia Minist Hlth, Inst Med Res, Primary Immunodeficiency Unit, Allergy & Immunol Res Ctr, Kuala Lumpur, MalaysiaYahya, Sharifah Nurul Husna Syed论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Inst Med Res, Primary Immunodeficiency Unit, Allergy & Immunol Res Ctr, Kuala Lumpur, Malaysia Minist Hlth, Inst Med Res, Primary Immunodeficiency Unit, Allergy & Immunol Res Ctr, Kuala Lumpur, MalaysiaKassim, Asiah论文数: 0 引用数: 0 h-index: 0机构: Minist Hlth, Paediat Inst, Kuala Lumpur Hosp, Kuala Lumpur, Malaysia Minist Hlth, Inst Med Res, Primary Immunodeficiency Unit, Allergy & Immunol Res Ctr, Kuala Lumpur, MalaysiaBin Mohamad, Saharuddin论文数: 0 引用数: 0 h-index: 0机构: Univ Malaya, Fac Sci, Inst Biol Sci, Kuala Lumpur 50603, Malaysia Univ Malaya, Ctr Res Syst Biol Struct Bioinformat & Human Digi, Kuala Lumpur, Malaysia Minist Hlth, Inst Med Res, Primary Immunodeficiency Unit, Allergy & Immunol Res Ctr, Kuala Lumpur, Malaysia
- [25] Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathyNEUROMUSCULAR DISORDERS, 2020, 30 : S47 - S47Cohen, E.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, UMRS974, Paris, France Sorbonne Univ, UMRS974, Paris, FranceNelson, I.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, UMRS974, Paris, France Sorbonne Univ, UMRS974, Paris, FranceGartioux, C.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, UMRS974, Paris, France Sorbonne Univ, UMRS974, Paris, FranceBeuvin, M.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, UMRS974, Paris, France Sorbonne Univ, UMRS974, Paris, FranceMezdari, Z.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, UMRS974, Paris, France Sorbonne Univ, UMRS974, Paris, FranceRoth, F.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, UMRS974, Paris, France Sorbonne Univ, UMRS974, Paris, FranceBen Yaou, R.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, UMRS974, Paris, France Sorbonne Univ, UMRS974, Paris, FranceQuijano-Roy, S.论文数: 0 引用数: 0 h-index: 0机构: AP HP, INSERM, UMR1179, Garches, Montigny Le Bre, France Sorbonne Univ, UMRS974, Paris, FranceStojkovic, T.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, UMRS974, Paris, France Sorbonne Univ, UMRS974, Paris, FranceCarlier, R.论文数: 0 引用数: 0 h-index: 0机构: AP HP, INSERM, UMR1179, Paris, France Sorbonne Univ, UMRS974, Paris, FranceBonne, G.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, UMRS974, Paris, France Sorbonne Univ, UMRS974, Paris, FranceAllamand, V.论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, UMRS974, Paris, France Sorbonne Univ, UMRS974, Paris, France
- [26] Clinical exome sequencing identifies novel compound heterozygous mutations of the WEE2 gene in primary infertile women with fertilization failureGYNECOLOGICAL ENDOCRINOLOGY, 2021, 37 (12) : 1096 - 1101Wang, Ancong论文数: 0 引用数: 0 h-index: 0机构: Linyi Peoples Hosp, Dept Reprod Med, Linyi, Peoples R China Linyi Peoples Hosp, Dept Obstet & Gynecol, Linyi, Peoples R China Linyi Peoples Hosp, Dept Reprod Med, Linyi, Peoples R ChinaHuang, Shan论文数: 0 引用数: 0 h-index: 0机构: Linyi Hosp Tradit Chinese Med, Dept Resp Med, Linyi, Peoples R China Linyi Peoples Hosp, Dept Reprod Med, Linyi, Peoples R ChinaLiu, Min论文数: 0 引用数: 0 h-index: 0机构: Linyi Peoples Hosp, Dept Reprod Med, Linyi, Peoples R China Linyi Peoples Hosp, Dept Obstet & Gynecol, Linyi, Peoples R China Linyi Peoples Hosp, Dept Reprod Med, Linyi, Peoples R ChinaWang, Baosong论文数: 0 引用数: 0 h-index: 0机构: Linyi Peoples Hosp, Dept Reprod Med, Linyi, Peoples R China Linyi Peoples Hosp, Dept Obstet & Gynecol, Linyi, Peoples R China Linyi Peoples Hosp, Dept Reprod Med, Linyi, Peoples R ChinaWu, Fengxia论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Sch Basic Med Sci, Dept Anat & Neurobiol, Jinan, Peoples R China Linyi Peoples Hosp, Dept Reprod Med, Linyi, Peoples R ChinaZhu, Dongyi论文数: 0 引用数: 0 h-index: 0机构: Linyi Peoples Hosp, Dept Reprod Med, Linyi, Peoples R China Linyi Peoples Hosp, Dept Obstet & Gynecol, Linyi, Peoples R China Linyi Peoples Hosp, Dept Reprod Med, Linyi, Peoples R ChinaZhao, Xiangyu论文数: 0 引用数: 0 h-index: 0机构: Linyi Peoples Hosp, Dept Med Genet, Linyi, Peoples R China Linyi Peoples Hosp, Dept Reprod Med, Linyi, Peoples R China
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