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- [1] Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney diseaseEUROPEAN JOURNAL OF HUMAN GENETICS, 2016, 24 (11) : 1584 - 1590Mallawaarachchi, Amali C.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, 384 Victoria St, Sydney, NSW 2010, Australia Garvan Inst Med Res, 384 Victoria St, Sydney, NSW 2010, AustraliaHort, Yvonne论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, 384 Victoria St, Sydney, NSW 2010, Australia Garvan Inst Med Res, 384 Victoria St, Sydney, NSW 2010, AustraliaCowley, Mark J.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Univ New South Wales, St Vincents Hosp Clin Sch, Sydney, NSW, Australia Garvan Inst Med Res, 384 Victoria St, Sydney, NSW 2010, AustraliaMcCabe, Mark J.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Univ New South Wales, St Vincents Hosp Clin Sch, Sydney, NSW, Australia Garvan Inst Med Res, 384 Victoria St, Sydney, NSW 2010, AustraliaMinoche, Andre论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Garvan Inst Med Res, 384 Victoria St, Sydney, NSW 2010, AustraliaDinger, Marcel E.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, Kinghorn Ctr Clin Genom, Sydney, NSW, Australia Univ New South Wales, St Vincents Hosp Clin Sch, Sydney, NSW, Australia Garvan Inst Med Res, 384 Victoria St, Sydney, NSW 2010, AustraliaShine, John论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, 384 Victoria St, Sydney, NSW 2010, Australia Garvan Inst Med Res, 384 Victoria St, Sydney, NSW 2010, AustraliaFurlong, Timothy J.论文数: 0 引用数: 0 h-index: 0机构: Garvan Inst Med Res, 384 Victoria St, Sydney, NSW 2010, Australia St Vincents Hosp, Dept Renal Med, Sydney, NSW, Australia Garvan Inst Med Res, 384 Victoria St, Sydney, NSW 2010, Australia
- [2] Whole genome sequencing reveals novel mutations causing autosomal dominant inherited macular degenerationOPHTHALMIC GENETICS, 2018, 39 (06) : 763 - 770论文数: 引用数: h-index:机构:Stanton, Chloe M.论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, Med Res Council Inst Genet & Mol Med, Med Res Council Human Genet Unit, Edinburgh, Midlothian, Scotland Moorfields Eye Hosp, Dept Ophthalmol, London, EnglandMarsh, Joseph论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, Med Res Council Inst Genet & Mol Med, Med Res Council Human Genet Unit, Edinburgh, Midlothian, Scotland Moorfields Eye Hosp, Dept Ophthalmol, London, EnglandCarss, Keren J.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Hematol, Cambridge, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England Moorfields Eye Hosp, Dept Ophthalmol, London, EnglandWaseem, Naushin论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Ophthalmol, London, EnglandBiswas, Pooja论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Diego, Shiley Eye Inst, La Jolla, CA 92093 USA Moorfields Eye Hosp, Dept Ophthalmol, London, EnglandAgorogiannis, Georgios论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Dept Ophthalmol, London, England Moorfields Eye Hosp, Dept Ophthalmol, London, EnglandRaymond, Lucy论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge, England Univ Cambridge, Dept Med Genet, Cambridge, England Moorfields Eye Hosp, Dept Ophthalmol, London, EnglandArno, Gavin论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Dept Ophthalmol, London, England UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Ophthalmol, London, EnglandWebster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, Dept Ophthalmol, London, England UCL, Inst Ophthalmol, London, England Moorfields Eye Hosp, Dept Ophthalmol, London, England
- [3] Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney diseaseEuropean Journal of Human Genetics, 2016, 24 : 1584 - 1590Amali C Mallawaarachchi论文数: 0 引用数: 0 h-index: 0机构: Garvan Institute of Medical Research,Department of Renal MedicineYvonne Hort论文数: 0 引用数: 0 h-index: 0机构: Garvan Institute of Medical Research,Department of Renal MedicineMark J Cowley论文数: 0 引用数: 0 h-index: 0机构: Garvan Institute of Medical Research,Department of Renal MedicineMark J McCabe论文数: 0 引用数: 0 h-index: 0机构: Garvan Institute of Medical Research,Department of Renal MedicineAndré Minoche论文数: 0 引用数: 0 h-index: 0机构: Garvan Institute of Medical Research,Department of Renal MedicineMarcel E Dinger论文数: 0 引用数: 0 h-index: 0机构: Garvan Institute of Medical Research,Department of Renal MedicineJohn Shine论文数: 0 引用数: 0 h-index: 0机构: Garvan Institute of Medical Research,Department of Renal MedicineTimothy J Furlong论文数: 0 引用数: 0 h-index: 0机构: Garvan Institute of Medical Research,Department of Renal Medicine
- [4] Whole-Genome Sequencing in Outbreak AnalysisCLINICAL MICROBIOLOGY REVIEWS, 2015, 28 (03) : 541 - 563Gilchrist, Carol A.论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Med, Charlottesville, VA 22903 USA Univ Virginia, Dept Med, Charlottesville, VA 22903 USATurner, Stephen D.论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Publ Hlth, Charlottesville, VA USA Univ Virginia, Dept Med, Charlottesville, VA 22903 USARiley, Margaret F.论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Publ Hlth, Charlottesville, VA USA Univ Virginia, Sch Med, Sch Law, Charlottesville, VA 22908 USA Univ Virginia, Batten Sch Leadership & Publ Policy, Charlottesville, VA USA Univ Virginia, Dept Med, Charlottesville, VA 22903 USAPetri, William A., Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Med, Charlottesville, VA 22903 USA Univ Virginia, Dept Microbiol, Charlottesville, VA 22908 USA Univ Virginia, Dept Pathol, Charlottesville, VA 22903 USA Univ Virginia, Dept Med, Charlottesville, VA 22903 USAHewlett, Erik L.论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Med, Charlottesville, VA 22903 USA Univ Virginia, Dept Microbiol, Charlottesville, VA 22908 USA Univ Virginia, Dept Med, Charlottesville, VA 22903 USA
- [5] Whole-genome sequencingPRACTICAL NEUROLOGY, 2021, 21 (04) : 322 - +Morris, Huw R.论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London WC1N 3BG, England UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London WC1N 3BG, EnglandHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL Queen Sq Inst Neurol, Dept Mol Neurosci, London, England UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London WC1N 3BG, EnglandPolke, James论文数: 0 引用数: 0 h-index: 0机构: Univ Coll London Hosp NHS Fdn Trust, Natl Hosp Neurol & Neurosurg, Neurogenet, London, England UCL Queen Sq Inst Neurol, Dept Clin & Movement Neurosci, London WC1N 3BG, England
- [6] Fitting whole-genome sequencing analysis for metastasisNature Cancer, 2021, 2 : 1290 - 1290Julia Simundza论文数: 0 引用数: 0 h-index: 0机构: Nature Cancer,
- [7] Fitting whole-genome sequencing analysis for metastasisNATURE CANCER, 2021, 2 (12) : 1290 - 1290Simundza, Julia论文数: 0 引用数: 0 h-index: 0机构: Nature Cancer,
- [8] Whole-genome sequencing analysis of the cardiometabolic proteomeNATURE COMMUNICATIONS, 2020, 11 (01)Gilly, Arthur论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, Germany Wellcome Sanger Inst, Wellcome Genome Campus, Hinxton CB10 1SA, England Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, GermanyPark, Young-Chan论文数: 0 引用数: 0 h-index: 0机构: Wellcome Sanger Inst, Wellcome Genome Campus, Hinxton CB10 1SA, England Univ Cambridge, Cambridge, England Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, GermanyPng, Grace论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, Germany Wellcome Sanger Inst, Wellcome Genome Campus, Hinxton CB10 1SA, England Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, GermanyBarysenka, Andrei论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, Germany Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, GermanyFischer, Iris论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, Germany Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, GermanyBjornland, Thea论文数: 0 引用数: 0 h-index: 0机构: Wellcome Sanger Inst, Wellcome Genome Campus, Hinxton CB10 1SA, England Norwegian Univ Sci & Technol, Dept Math Sci, NO-7491 Trondheim, Norway Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, GermanySoutham, Lorraine论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, Germany Wellcome Sanger Inst, Wellcome Genome Campus, Hinxton CB10 1SA, England Wellcome Ctr Human Genet, Oxford, England Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, GermanySuveges, Daniel论文数: 0 引用数: 0 h-index: 0机构: Wellcome Sanger Inst, Wellcome Genome Campus, Hinxton CB10 1SA, England European Bioinformat Inst, Wellcome Genome Campus, Hinxton CB10 1SH, England Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, GermanyNeumeyer, Sonja论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, Germany Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, GermanyRayner, N. William论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, Germany Wellcome Sanger Inst, Wellcome Genome Campus, Hinxton CB10 1SA, England Univ Oxford, Nuffield Dept Med, Wellcome Ctr Human Genet, Oxford, England Univ Oxford, Radcliffe Dept Med, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, GermanyTsafantakis, Emmanouil论文数: 0 引用数: 0 h-index: 0机构: Anogia Med Ctr, Anogia, Greece Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, GermanyKaraleftheri, Maria论文数: 0 引用数: 0 h-index: 0机构: Echinos Med Ctr, Echinos, Greece Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, GermanyDedoussis, George论文数: 0 引用数: 0 h-index: 0机构: Harokopio Univ Athens, Sch Hlth Sci & Educ, Dept Nutr & Dietet, Moschato, Greece Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, GermanyZeggini, Eleftheria论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, Germany Wellcome Sanger Inst, Wellcome Genome Campus, Hinxton CB10 1SA, England Tech Univ Munich, TUM Sch Med, Munich, Germany Klinikum Rechts Der Isar, Munich, Germany Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Translat Genom, Neuherberg, Germany
- [9] Whole-genome sequencing analysis of the cardiometabolic proteomeNature Communications, 11Arthur Gilly论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum München—German Research Center for Environmental Health,Institute of Translational GenomicsYoung-Chan Park论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum München—German Research Center for Environmental Health,Institute of Translational GenomicsGrace Png论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum München—German Research Center for Environmental Health,Institute of Translational GenomicsAndrei Barysenka论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum München—German Research Center for Environmental Health,Institute of Translational GenomicsIris Fischer论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum München—German Research Center for Environmental Health,Institute of Translational GenomicsThea Bjørnland论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum München—German Research Center for Environmental Health,Institute of Translational GenomicsLorraine Southam论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum München—German Research Center for Environmental Health,Institute of Translational GenomicsDaniel Suveges论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum München—German Research Center for Environmental Health,Institute of Translational GenomicsSonja Neumeyer论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum München—German Research Center for Environmental Health,Institute of Translational GenomicsN. William Rayner论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum München—German Research Center for Environmental Health,Institute of Translational GenomicsEmmanouil Tsafantakis论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum München—German Research Center for Environmental Health,Institute of Translational GenomicsMaria Karaleftheri论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum München—German Research Center for Environmental Health,Institute of Translational GenomicsGeorge Dedoussis论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum München—German Research Center for Environmental Health,Institute of Translational GenomicsEleftheria Zeggini论文数: 0 引用数: 0 h-index: 0机构: Helmholtz Zentrum München—German Research Center for Environmental Health,Institute of Translational Genomics
- [10] Whole-genome sequencing analysis of brain tumorsCANCER SCIENCE, 2025, 116 : 626 - 626Suzuki, Hiromichi论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, Japan Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, JapanNakashima, Takuma论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, Japan Nagoya Univ, Dept Neurosurg, Grad Sch Med, Nagoya, Aichi, Japan Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, JapanFunakoshi, Yusuke论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, Japan Kyushu Univ, Dept Neurosurg, Grad Sch Med Sci, Fukuoka, Japan Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, JapanKanamori, Masayuki论文数: 0 引用数: 0 h-index: 0机构: Tohoku Univ, Dept Neurosurg, Grad Sch Med, Sendai, Miyagi, Japan Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, JapanShibahara, Ichiyo论文数: 0 引用数: 0 h-index: 0机构: Kitasato Univ, Dept Neurosurg, Sch Med, Tokyo, Japan Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, JapanSuzuki, Tomonari论文数: 0 引用数: 0 h-index: 0机构: Saitama Med Univ, Dept Neurooncol Neurosurg, Int Med Ctr, Saitama, Japan Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, JapanKinoshita, Manabu论文数: 0 引用数: 0 h-index: 0机构: Asahikawa Med Univ, Dept Neurosurg, Asahikawa, Hokkaido, Japan Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, JapanSonoda, Yukihiko论文数: 0 引用数: 0 h-index: 0机构: Yamagata Univ, Dept Neurosurg, Fac Med, Yamagata, Japan Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, JapanArakawa, Yoshiki论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Neurosurg, Grad Sch Med, Kyoto, Japan Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, Japan论文数: 引用数: h-index:机构:Tanaka, Shota论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Dept Neurosurg, Tokyo, Japan Okayama Univ, Dept Neurosurg, Grad Sch Med, Okayama, Japan Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, JapanIshida, Joji论文数: 0 引用数: 0 h-index: 0机构: Okayama Univ, Dept Neurosurg, Grad Sch Med, Okayama, Japan Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, JapanSaito, Ryuta论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Neurosurg, Grad Sch Med, Nagoya, Aichi, Japan Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Narita, Yoshitaka论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Ctr, Dept Neurosurg & Neurooncol, Tokyo, Japan Natl Canc Ctr, Res Inst, Div BrainTumor Translat Res, Tokyo, Japan