共 31 条
- [1] A method and server for predicting damaging missense mutations[J]. NATURE METHODS, 2010, 7 (04) : 248 - 249Adzhubei, Ivan A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USASchmidt, Steffen论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Dev Biol, Dept Biochem, Tubingen, Germany Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USAPeshkin, Leonid论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Dept Syst Biol, Boston, MA USA Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USARamensky, Vasily E.论文数: 0 引用数: 0 h-index: 0机构: Russian Acad Sci, VA Engelhardt Mol Biol Inst, Moscow, Russia Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USAGerasimova, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Inst Life Sci, Ann Arbor, MI USA Univ Michigan, Dept Ecol & Evolutionary Biol, Ann Arbor, MI USA Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USABork, Peer论文数: 0 引用数: 0 h-index: 0机构: European Mol Biol Lab, Heidelberg, Germany Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USAKondrashov, Alexey S.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Inst Life Sci, Ann Arbor, MI USA Univ Michigan, Dept Ecol & Evolutionary Biol, Ann Arbor, MI USA Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USASunyaev, Shamil R.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA Harvard Univ, Sch Med, Div Genet, Brigham & Womens Hosp, Boston, MA 02115 USA
- [2] An integrated map of genetic variation from 1,092 human genomes[J]. NATURE, 2012, 491 (7422) : 56 - 65Altshuler, David M.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandDurbin, Richard M.论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandAbecasis, Goncalo R.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Ctr Stat Genet, Ann Arbor, MI 48109 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandBentley, David R.论文数: 0 引用数: 0 h-index: 0机构: Illumina United Kingdom, Near Saffron Walden CB10 1XL, Essex, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandChakravarti, Aravinda论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandClark, Andrew G.论文数: 0 引用数: 0 h-index: 0机构: Cornell Univ, Ctr Comparat & Populat Genom, Ithaca, NY 14850 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandDonnelly, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Univ Oxford, Dept Stat, Oxford OX1 3TG, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandEichler, Evan E.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA Howard Hughes Med Inst, Seattle, WA 98195 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England论文数: 引用数: h-index:机构:Gabriel, Stacey B.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandGibbs, Richard A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandGreen, Eric D.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandHurles, Matthew E.论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandKnoppers, Bartha M.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Ctr Genom & Policy, Montreal, PQ H3A 1A4, Canada Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandKorbel, Jan O.论文数: 0 引用数: 0 h-index: 0机构: European Mol Biol Lab, Genome Biol Res Unit, D-69117 Heidelberg, Germany Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandLander, Eric S.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandLee, Charles论文数: 0 引用数: 0 h-index: 0机构: Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandLehrach, Hans论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, D-14195 Berlin, Germany Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandMardis, Elaine R.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Genome Ctr, St Louis, MO 63108 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandMarth, Gabor T.论文数: 0 引用数: 0 h-index: 0机构: Boston Coll, Dept Biol, Chestnut Hill, MA 02467 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandMcVean, Gil A.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandNickerson, Deborah A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandSchmidt, Jeanette P.论文数: 0 引用数: 0 h-index: 0机构: Affymetrix Inc, Santa Clara, CA 95051 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandSherry, Stephen T.论文数: 0 引用数: 0 h-index: 0机构: US Natl Inst Hlth, Natl Ctr Biotechnol Informat, Bethesda, MD 20892 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandWang, Jun论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandWilson, Richard K.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Genome Ctr, St Louis, MO 63108 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandGibbs, Richard A.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandDinh, Huyen论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandKovar, Christie论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandLee, Sandra论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandLewis, Lora论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandMuzny, Donna论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandReid, Jeff论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandWang, Min论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandWang, Jun论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandFang, Xiaodong论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandGuo, Xiaosen论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandJian, Min论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandJiang, Hui论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandJin, Xin论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandLi, Guoqing论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandLi, Jingxiang论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandLi, Yingrui论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandLi, Zhuo论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandLiu, Xiao论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandLu, Yao论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandMa, Xuedi论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandSu, Zhe论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandTai, Shuaishuai论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, EnglandTang, Meifang论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, Shenzhen 518083, Peoples R China Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
- [3] Exome Analysis of Patients with Concurrent Pediatric Inflammatory Bowel Disease and Autoimmune Disease[J]. INFLAMMATORY BOWEL DISEASES, 2015, 21 (06) : 1229 - 1236Andreoletti, Gaia论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Southampton Gen Hosp, Human Genet & Genom Med, Southampton SO16 6YD, Hants, England Univ Southampton, Southampton Gen Hosp, Human Genet & Genom Med, Southampton SO16 6YD, Hants, EnglandAshton, James J.论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Southampton Gen Hosp, Human Genet & Genom Med, Southampton SO16 6YD, Hants, England Univ Hosp Southampton NHS Fdn Trust, Southampton Gen Hosp, Dept Paediat Gastroenterol, Southampton, Hants, England Univ Southampton, Southampton Gen Hosp, Human Genet & Genom Med, Southampton SO16 6YD, Hants, England论文数: 引用数: h-index:机构:Willis, Claire论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Southampton Gen Hosp, NIHR Nutr Biomed Res Ctr, Southampton Ctr Biomed Res, Southampton, Hants, England Univ Southampton, Southampton Gen Hosp, Human Genet & Genom Med, Southampton SO16 6YD, Hants, EnglandHaggarty, Rachel论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Southampton Gen Hosp, NIHR Nutr Biomed Res Ctr, Southampton Ctr Biomed Res, Southampton, Hants, England Univ Southampton, Southampton Gen Hosp, Human Genet & Genom Med, Southampton SO16 6YD, Hants, EnglandGibson, Jane论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Ctr Biol Sci, Fac Nat & Environm Studies, Southampton, Hants, England Univ Southampton, Southampton Gen Hosp, Human Genet & Genom Med, Southampton SO16 6YD, Hants, EnglandHolloway, John论文数: 0 引用数: 0 h-index: 0机构: Univ Southampton, Southampton Gen Hosp, Human Genet & Genom Med, Southampton SO16 6YD, Hants, England Univ Southampton, Southampton Gen Hosp, Human Genet & Genom Med, Southampton SO16 6YD, Hants, EnglandBatra, Akshay论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Southampton Gen Hosp, Dept Paediat Gastroenterol, Southampton, Hants, England Univ Southampton, Southampton Gen Hosp, Human Genet & Genom Med, Southampton SO16 6YD, Hants, EnglandAfzal, Nadeem A.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Southampton Gen Hosp, Dept Paediat Gastroenterol, Southampton, Hants, England Univ Southampton, Southampton Gen Hosp, Human Genet & Genom Med, Southampton SO16 6YD, Hants, EnglandBeattie, Robert Mark论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Southampton Gen Hosp, Dept Paediat Gastroenterol, Southampton, Hants, England Univ Southampton, Southampton Gen Hosp, Human Genet & Genom Med, Southampton SO16 6YD, Hants, England论文数: 引用数: h-index:机构:
- [4] [Anonymous], 2012, EX SEQ PROJ ESP SEC
- [5] A novel role for PA28γ-proteasome in nuclear speckle organization and SR protein trafficking[J]. MOLECULAR BIOLOGY OF THE CELL, 2008, 19 (04) : 1706 - 1716Baldin, Veronique论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier 2, IFR122, CRBM, CNRS UMR 5237, Montpellier, France Univ Montpellier 1, IFR122, CRBM, CNRS UMR 5237, Montpellier, France Univ Montpellier 2, IFR122, CRBM, CNRS UMR 5237, Montpellier, FranceMilitello, Muriel论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier 2, IFR122, CRBM, CNRS UMR 5237, Montpellier, France Univ Montpellier 1, IFR122, CRBM, CNRS UMR 5237, Montpellier, France Univ Montpellier 2, IFR122, CRBM, CNRS UMR 5237, Montpellier, FranceThomas, Yann论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier 2, IFR122, CRBM, CNRS UMR 5237, Montpellier, France Univ Montpellier 1, IFR122, CRBM, CNRS UMR 5237, Montpellier, France Univ Montpellier 2, IFR122, CRBM, CNRS UMR 5237, Montpellier, FranceDoucet, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier 2, IFR122, CRBM, CNRS UMR 5237, Montpellier, France Univ Montpellier 1, IFR122, CRBM, CNRS UMR 5237, Montpellier, France Univ Montpellier 2, IFR122, CRBM, CNRS UMR 5237, Montpellier, FranceFic, Weronika论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier 2, IFR122, IGMM, CNRS UMR 5535, Montpellier, France Univ Montpellier 1, IFR122, IGMM, CNRS UMR 5535, Montpellier, France Univ Montpellier 2, IFR122, CRBM, CNRS UMR 5237, Montpellier, FranceBoireau, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier 2, IFR122, IGMM, CNRS UMR 5535, Montpellier, France Univ Montpellier 1, IFR122, IGMM, CNRS UMR 5535, Montpellier, France Univ Montpellier 2, IFR122, CRBM, CNRS UMR 5237, Montpellier, FranceJariel-Encontre, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier 2, IFR122, IGMM, CNRS UMR 5535, Montpellier, France Univ Montpellier 1, IFR122, IGMM, CNRS UMR 5535, Montpellier, France Univ Montpellier 2, IFR122, CRBM, CNRS UMR 5237, Montpellier, FrancePiechaczyk, Marc论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier 2, IFR122, IGMM, CNRS UMR 5535, Montpellier, France Univ Montpellier 1, IFR122, IGMM, CNRS UMR 5535, Montpellier, France Univ Montpellier 2, IFR122, CRBM, CNRS UMR 5237, Montpellier, France论文数: 引用数: h-index:机构:Tazi, Jamal论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier 2, IFR122, IGMM, CNRS UMR 5535, Montpellier, France Univ Montpellier 1, IFR122, IGMM, CNRS UMR 5535, Montpellier, France Univ Montpellier 2, IFR122, CRBM, CNRS UMR 5237, Montpellier, FranceCoux, Olivier论文数: 0 引用数: 0 h-index: 0机构: Univ Montpellier 2, IFR122, CRBM, CNRS UMR 5237, Montpellier, France Univ Montpellier 1, IFR122, CRBM, CNRS UMR 5237, Montpellier, France Univ Montpellier 2, IFR122, CRBM, CNRS UMR 5237, Montpellier, France
- [6] IDENTIFICATION OF MUTATIONS IN THE COL4A5 COLLAGEN GENE IN ALPORT SYNDROME[J]. SCIENCE, 1990, 248 (4960) : 1224 - 1227BARKER, DF论文数: 0 引用数: 0 h-index: 0机构: UNIV ROCHESTER, SCH MED & DENT, DEPT BIOCHEM, ROCHESTER, NY 14642 USAHOSTIKKA, SL论文数: 0 引用数: 0 h-index: 0机构: UNIV ROCHESTER, SCH MED & DENT, DEPT BIOCHEM, ROCHESTER, NY 14642 USAZHOU, J论文数: 0 引用数: 0 h-index: 0机构: UNIV ROCHESTER, SCH MED & DENT, DEPT BIOCHEM, ROCHESTER, NY 14642 USACHOW, LT论文数: 0 引用数: 0 h-index: 0机构: UNIV ROCHESTER, SCH MED & DENT, DEPT BIOCHEM, ROCHESTER, NY 14642 USAOLIPHANT, AR论文数: 0 引用数: 0 h-index: 0机构: UNIV ROCHESTER, SCH MED & DENT, DEPT BIOCHEM, ROCHESTER, NY 14642 USAGERKEN, SC论文数: 0 引用数: 0 h-index: 0机构: UNIV ROCHESTER, SCH MED & DENT, DEPT BIOCHEM, ROCHESTER, NY 14642 USAGREGORY, MC论文数: 0 引用数: 0 h-index: 0机构: UNIV ROCHESTER, SCH MED & DENT, DEPT BIOCHEM, ROCHESTER, NY 14642 USASKOLNICK, MH论文数: 0 引用数: 0 h-index: 0机构: UNIV ROCHESTER, SCH MED & DENT, DEPT BIOCHEM, ROCHESTER, NY 14642 USAATKIN, CL论文数: 0 引用数: 0 h-index: 0机构: UNIV ROCHESTER, SCH MED & DENT, DEPT BIOCHEM, ROCHESTER, NY 14642 USA论文数: 引用数: h-index:机构:
- [7] Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes[J]. GUT, 2013, 62 (07) : 977 - 984论文数: 引用数: h-index:机构:Wiskin, Anthony E.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Southampton Gen Hosp, NIHR Biomed Res Unit Nutr Diet & Lifestyle, Southampton, Hants, England Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, EnglandGibson, Jane论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, England Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, EnglandTapper, William论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, England Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, EnglandWillis, Claire论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Southampton Gen Hosp, NIHR Biomed Res Unit Nutr Diet & Lifestyle, Southampton, Hants, England Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, EnglandAfzal, Nadeem A.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Southampton Gen Hosp, Paediat Med Unit, Southampton, Hants, England Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, EnglandUpstill-Goddard, Rosanna论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, England Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, EnglandHolloway, John W.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Southampton SO16 6YD, Hants, England Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, EnglandSimpson, Michael A.论文数: 0 引用数: 0 h-index: 0机构: Kings Coll London, Sch Med, Guys Hosp, Div Genet & Mol Med, London WC2R 2LS, England Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, EnglandBeattie, R. Mark论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Southampton Gen Hosp, Paediat Med Unit, Southampton, Hants, England Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, EnglandCollins, Andrew论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, England Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, EnglandEnnis, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, England Univ Hosp Southampton NHS Fdn Trust, Univ Southampton, Fac Med, Genet Epidemiol & Genom Informat Grp, Southampton, Hants, England
- [8] Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays[J]. SCIENCE, 2010, 327 (5961) : 78 - 81Drmanac, Radoje论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USASparks, Andrew B.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USACallow, Matthew J.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAHalpern, Aaron L.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USABurns, Norman L.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAKermani, Bahram G.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USACarnevali, Paolo论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USANazarenko, Igor论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USANilsen, Geoffrey B.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAYeung, George论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USADahl, Fredrik论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAFernandez, Andres论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAStaker, Bryan论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAPant, Krishna P.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USABaccash, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USABorcherding, Adam P.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USABrownley, Anushka论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USACedeno, Ryan论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAChen, Linsu论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAChernikoff, Dan论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USACheung, Alex论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAChirita, Razvan论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USACurson, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAEbert, Jessica C.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAHacker, Coleen R.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAHartlage, Robert论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAHauser, Brian论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAHuang, Steve论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAJiang, Yuan论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAKarpinchyk, Vitali论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAKoenig, Mark论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAKong, Calvin论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USALanders, Tom论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USALe, Catherine论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USALiu, Jia论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAMcBride, Celeste E.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAMorenzoni, Matt论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAMorey, Robert E.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAMutch, Karl论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAPerazich, Helena论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAPerry, Kimberly论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAPeters, Brock A.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAPeterson, Joe论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAPethiyagoda, Charit L.论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAPothuraju, Kaliprasad论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USARichter, Claudia论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USARosenbaum, Abraham M.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Dept Genet, Cambridge, MA 02115 USA Complete Genom Inc, Mountain View, CA 94043 USARoy, Shaunak论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USAShafto, Jay论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USASharanhovich, Uladzislau论文数: 0 引用数: 0 h-index: 0机构: Complete Genom Inc, Mountain View, CA 94043 USA Complete Genom Inc, Mountain View, CA 94043 USA
- [9] Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (04) : 860 - 864Gazou, Anastasia论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, GermanyRiess, Angelika论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, GermanyGrasshoff, Ute论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, GermanySchaeferhoff, Karin论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, GermanyBonin, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, GermanyJauch, Anna论文数: 0 引用数: 0 h-index: 0机构: Heidelberg Univ, Inst Human Genet, Heidelberg, Germany Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, GermanyRiess, Olaf论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, GermanyTzschach, Andreas论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany
- [10] Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23[J]. PEDIATRIC NEPHROLOGY, 2009, 24 (09) : 1673 - 1681Hoischen, Alexander论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-5300 Bonn, Germany Univ Childrens Hosp, Dept Pediat, D-18057 Rostock, GermanyLandwehr, Christina论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-5300 Bonn, Germany Univ Childrens Hosp, Dept Pediat, D-18057 Rostock, GermanyKabisch, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Pediat, D-18057 Rostock, Germany Univ Childrens Hosp, Dept Pediat, D-18057 Rostock, GermanyDing, Xiao-Qi论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Diagnost & Intervent Neuroradiol, D-3000 Hannover, Germany Univ Childrens Hosp, Dept Pediat, D-18057 Rostock, GermanyTrost, Detlef论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-5300 Bonn, Germany Univ Childrens Hosp, Dept Pediat, D-18057 Rostock, GermanyStropahl, Gerhard论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Rostock, Inst Pathol, Rostock, Germany Univ Childrens Hosp, Dept Pediat, D-18057 Rostock, GermanyWigger, Marianne论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Pediat, D-18057 Rostock, Germany Univ Childrens Hosp, Dept Pediat, D-18057 Rostock, GermanyRadlwimmer, Bernhard论文数: 0 引用数: 0 h-index: 0机构: German Canc Res Ctr, Div Mol Genet, D-6900 Heidelberg, Germany Univ Childrens Hosp, Dept Pediat, D-18057 Rostock, GermanyWeber, Ruthild G.论文数: 0 引用数: 0 h-index: 0机构: Univ Bonn, Inst Human Genet, D-5300 Bonn, Germany Univ Childrens Hosp, Dept Pediat, D-18057 Rostock, GermanyHaffner, Dieter论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Dept Pediat, D-18057 Rostock, Germany Univ Childrens Hosp, Dept Pediat, D-18057 Rostock, Germany