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- [31] Added value of clinical whole-genome sequencing: Cooccurring rare diseases and pharmacogenetic profilingEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 698 - 698Caspar, S. M.论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Genet & Gene Diagnost, Schlieren, Switzerland Swiss Fed Inst Technol, Lab Translat Nutr Biol, Zurich, Switzerland Ctr Cardiovasc Genet & Gene Diagnost, Schlieren, SwitzerlandNajafi, A.论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Genet & Gene Diagnost, Schlieren, Switzerland Ctr Cardiovasc Genet & Gene Diagnost, Schlieren, SwitzerlandMeienberg, J.论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Genet & Gene Diagnost, Schlieren, Switzerland Ctr Cardiovasc Genet & Gene Diagnost, Schlieren, SwitzerlandSchneider, T.论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Genet & Gene Diagnost, Schlieren, Switzerland Ctr Cardiovasc Genet & Gene Diagnost, Schlieren, SwitzerlandHenggeler, C.论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Genet & Gene Diagnost, Schlieren, Switzerland Ctr Cardiovasc Genet & Gene Diagnost, Schlieren, SwitzerlandMatyas, G.论文数: 0 引用数: 0 h-index: 0机构: Ctr Cardiovasc Genet & Gene Diagnost, Schlieren, Switzerland Ctr Cardiovasc Genet & Gene Diagnost, Schlieren, Switzerland
- [32] Whole genome sequencing for the investigation of rare anaemias: Challenges and real-world outcomesBRITISH JOURNAL OF HAEMATOLOGY, 2019, 185 : 115 - 116Brierley, C.论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandBabbs, C.论文数: 0 引用数: 0 h-index: 0机构: MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandMcGowan, S.论文数: 0 引用数: 0 h-index: 0机构: MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandDownes, D.论文数: 0 引用数: 0 h-index: 0机构: MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandSanchis-Juan, A.论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn, NIHR BioResource, Cambridge Biomed Campus, Cambridge, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandAydinok, Y.论文数: 0 引用数: 0 h-index: 0机构: Ege Univ Hosp, Dept Paediat Haematol, Izmir, Turkey Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandThakur, I.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Wales, Dept Paediat Haematol Oncol, Cardiff, S Glam, Wales Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandConnor, P.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Wales, Dept Paediat Haematol Oncol, Cardiff, S Glam, Wales Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandTedgard, U.论文数: 0 引用数: 0 h-index: 0机构: Skane Univ Hosp, Dept Paediat Haematol, Lund, Sweden Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandBechensteen, A. G.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Paediat, Oslo, Norway Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandHarvet, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Southampton NHS Fdn Trust, Dept Paediat Haematol, Southampton, Hants, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, Englandde la Fuente, J.论文数: 0 引用数: 0 h-index: 0机构: Imperial Coll London, Dept Haematol, Hammersmith Hosp Campus, London, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandMettananda, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Kelaniya, Fac Med, Dept Paediat, Colombo, Sri Lanka Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandHendricks, M.论文数: 0 引用数: 0 h-index: 0机构: Red Cross War Mem Childrens Hosp, Dept Paediat Med & Child Hlth, Cape Town, South Africa Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandCarey, P.论文数: 0 引用数: 0 h-index: 0机构: Royal Victoria Infirm, Dept Clin Haematol, Newcastle, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandLausen, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp, Rigshosp, Dept Paediat & Adolescent Med, Copenhagen, Denmark Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandAncliff, P.论文数: 0 引用数: 0 h-index: 0机构: Great Ormond St Hosp Sick Children, Dept Paediat Haematol, London, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandQureshi, A.论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Dept Paediat, Oxford, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandLouka, E.论文数: 0 引用数: 0 h-index: 0机构: MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandOkoli, S.论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas NHS Fdn Trust, Dept Haematol, London, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandPsaila, B.论文数: 0 引用数: 0 h-index: 0机构: MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandO'Sullivan, J.论文数: 0 引用数: 0 h-index: 0机构: MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandMead, A.论文数: 0 引用数: 0 h-index: 0机构: MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandMapeta, R.论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn, NIHR BioResource, Cambridge Biomed Campus, Cambridge, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandMegy, K.论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn, NIHR BioResource, Cambridge Biomed Campus, Cambridge, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, England论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Roberts, I.论文数: 0 引用数: 0 h-index: 0机构: MRC Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandLayton, M.论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, EnglandRoy, N.论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, England Oxford Univ Hosp NHS Fdn Trust, Dept Haematol, Oxford, England
- [33] Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseAMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (01) : 75 - 90Carss, Keren J.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England论文数: 引用数: h-index:机构:Erwood, Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England论文数: 引用数: h-index:机构:Sanchis-Juan, Alba论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England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:Dewhurst, Eleanor论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandMalka, Samantha论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, London EC1V 9EL, England Moorfields Eye Hosp, London EC1V 2PD, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandPlagnol, Vincent论文数: 0 引用数: 0 h-index: 0机构: UCL, Genet Inst, London WC1E 6BT, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England论文数: 引用数: h-index:机构:Stirrups, Kathleen论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandRizzo, Roberta论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London EC1V 2PD, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandWright, Genevieve论文数: 0 引用数: 0 h-index: 0机构: Moorfields Eye Hosp, London EC1V 2PD, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandJosifova, Dragana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 CB2 0QQ, England Guys Hosp, Clin Genet Dept, Great Maze Pond, London SE1 9RT, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandBitner-Glindzicz, Maria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 CB2 0QQ, England UCL Great Ormond St Inst Child Hlth, 30 Guilford St, London WC1N 1EH, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandScott, Richard H.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 CB2 0QQ, England Great Ormond St Hosp Sick Children, North East Thames Reg Genet Serv, London WC1N 3JH, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandClement, Emma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 CB2 0QQ, England Great Ormond St Hosp Sick Children, Great Ormond St, London WC1N 3JH, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England论文数: 引用数: h-index:机构:Armstrong, Ruth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 CB2 0QQ, England Cambridge Univ Hosp NHS Fdn Trust, Dept Med Genet, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Cambridge Univ Hosp NHS Fdn Trust, Dept Paediat Neurol, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandBrady, Angela F.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 CB2 0QQ, England London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandCarmichael, Jenny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 CB2 0QQ, England Cambridge Univ Hosp NHS Fdn Trust, Dept Med Genet, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Cambridge Univ Hosp NHS Fdn Trust, Dept Paediat Neurol, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandChitre, Manali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 CB2 0QQ, England Cambridge Univ Hosp NHS Fdn Trust, Dept Med Genet, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Cambridge Univ Hosp NHS Fdn Trust, Dept Paediat Neurol, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandHenderson, Robert H. H.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 CB2 0QQ, England Moorfields Eye Hosp, London EC1V 2PD, England Great Ormond St Hosp Sick Children, Great Ormond St, London WC1N 3JH, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandHurst, Jane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 CB2 0QQ, England Great Ormond St Hosp Sick Children, Great Ormond St, London WC1N 3JH, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandMacLaren, Robert E.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 CB2 0QQ, England Moorfields Eye Hosp, London EC1V 2PD, England Univ Oxford, John Radcliffe Hosp, Nuffield Lab Ophthalmol, Oxford OX3 9DU, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandMurphy, Elaine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 CB2 0QQ, England Natl Hosp Neurol & Neurosurg, Charles Dent Metab Unit, Queen Sq, London WC1N 3BG, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandPaterson, Joan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 CB2 0QQ, England Cambridge Univ Hosp NHS Fdn Trust, Dept Med Genet, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Cambridge Univ Hosp NHS Fdn Trust, Dept Paediat Neurol, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandRosser, Elisabeth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 CB2 0QQ, England Great Ormond St Hosp Sick Children, Great Ormond St, London WC1N 3JH, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandThompson, Dorothy A.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 CB2 0QQ, England Great Ormond St Hosp Sick Children, Clin & Acad Dept Ophthalmol, London WC1N 3JH, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandWakeling, Emma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 CB2 0QQ, England London North West Healthcare NHS Trust, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandOuwehand, Willem H.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource Rare Dis, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandMichaelides, Michel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 CB2 0QQ, England UCL, UCL Inst Ophthalmol, London EC1V 9EL, England Moorfields Eye Hosp, London EC1V 2PD, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandMoore, Anthony T.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 CB2 0QQ, England UCL, UCL Inst Ophthalmol, London EC1V 9EL, England Moorfields Eye Hosp, London EC1V 2PD, England Univ Calif San Francisco, UCSF Sch Med, Dept Ophthalmol, San Francisco, CA 94158 USA Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandWebster, Andrew R.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 CB2 0QQ, England UCL, UCL Inst Ophthalmol, London EC1V 9EL, England Moorfields Eye Hosp, London EC1V 2PD, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandRaymond, F. 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 CB2 0QQ, England Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Cambridge CB2 0XY, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England
- [34] Neonatologists' Attitudes About Diagnostic Whole-Genome Sequencing in the NICUPEDIATRICS, 2019, 143 : S54 - S57Knapp, Brett论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Kansas City, MO 64108 USA Childrens Mercy Hosp, Kansas City, MO 64108 USADecker, Carole论文数: 0 引用数: 0 h-index: 0机构: St Lukes Mid Amer Heart Inst, Kansas City, MO USA Childrens Mercy Hosp, Kansas City, MO 64108 USALantos, John D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Mercy Hosp, Kansas City, MO 64108 USA Childrens Mercy Hosp, Kansas City, MO 64108 USA
- [35] Ending the Diagnostic Odyssey-Is Whole-Genome Sequencing the Answer?JAMA PEDIATRICS, 2020, 174 (09) : 821 - 822Wu, Ann Chen论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Precis Med Translat Res PROMOTER Ctr, Harvard Pilgrim Hlth Care, Dept Populat Med, 401 Pk Dr,Ste 401, Boston, MA 02215 USA Harvard Med Sch, Precis Med Translat Res PROMOTER Ctr, Harvard Pilgrim Hlth Care, Dept Populat Med, 401 Pk Dr,Ste 401, Boston, MA 02215 USAMcMahon, Pamela论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Precis Med Translat Res PROMOTER Ctr, Harvard Pilgrim Hlth Care, Dept Populat Med, 401 Pk Dr,Ste 401, Boston, MA 02215 USA Harvard Med Sch, Precis Med Translat Res PROMOTER Ctr, Harvard Pilgrim Hlth Care, Dept Populat Med, 401 Pk Dr,Ste 401, Boston, MA 02215 USALu, Christine论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Precis Med Translat Res PROMOTER Ctr, Harvard Pilgrim Hlth Care, Dept Populat Med, 401 Pk Dr,Ste 401, Boston, MA 02215 USA Harvard Med Sch, Precis Med Translat Res PROMOTER Ctr, Harvard Pilgrim Hlth Care, Dept Populat Med, 401 Pk Dr,Ste 401, Boston, MA 02215 USA
- [36] Clinical Application of Whole-Genome Sequencing Proceed With CareJAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2014, 311 (10): : 1017 - 1019Feero, William Gregory论文数: 0 引用数: 0 h-index: 0机构: Maine Dartmouth Family Med Residency, Augusta, ME USA Maine Dartmouth Family Med Residency, Augusta, ME USA
- [37] Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal SampleNEW ENGLAND JOURNAL OF MEDICINE, 2012, 367 (23): : 2226 - 2232Talkowski, Michael E.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Broad Inst, Program Med & Populat Genet, Cambridge, MA USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USAOrdulu, Zehra论文数: 0 引用数: 0 h-index: 0机构: Brigham & Womens Hosp, Dept Obstet Gynecol & Reprod Biol, Boston, MA 02115 USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USAPillalamarri, Vamsee论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USABenson, Carol B.论文数: 0 引用数: 0 h-index: 0机构: Brigham & Womens Hosp, Dept Radiol, Boston, MA 02115 USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USABlumenthal, Ian论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USAConnolly, Susan论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Radiol, Boston, MA 02115 USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USAHanscom, Carrie论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USAHussain, Naveed论文数: 0 引用数: 0 h-index: 0机构: Univ Connecticut, Dept Pediat, Farmington, CT USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USAPereira, Shahrin论文数: 0 引用数: 0 h-index: 0机构: Brigham & Womens Hosp, Dept Obstet Gynecol & Reprod Biol, Boston, MA 02115 USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USAPicker, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Dept Psychiat, Div Genet, Boston, MA 02115 USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USARosenfeld, Jill A.论文数: 0 引用数: 0 h-index: 0机构: PerkinElmer, Signature Genom Labs, Spokane, WA USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USAShaffer, Lisa G.论文数: 0 引用数: 0 h-index: 0机构: PerkinElmer, Signature Genom Labs, Spokane, WA USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USAWilkins-Haug, Louise E.论文数: 0 引用数: 0 h-index: 0机构: Brigham & Womens Hosp, Dept Obstet Gynecol & Reprod Biol, Boston, MA 02115 USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USAGusella, James F.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA Broad Inst, Program Med & Populat Genet, Cambridge, MA USA Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USAMorton, Cynthia C.论文数: 0 引用数: 0 h-index: 0机构: Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA Broad Inst, Program Med & Populat Genet, Cambridge, MA USA Brigham & Womens Hosp, Dept Obstet Gynecol & Reprod Biol, Boston, MA 02115 USA Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA Harvard Univ, Sch Med, Dept Neurol, Boston, MA 02115 USA
- [38] Clinical value of whole-genome sequencing of Mycobacterium tuberculosisLANCET INFECTIOUS DISEASES, 2015, 15 (09): : 1077 - 1090Takiff, Howard E.论文数: 0 引用数: 0 h-index: 0机构: IVIC, CMBC, Lab Genet Mol, Caracas 1020A, Venezuela Insitut Pasteur, Unite Genet Mycobacterienne, Paris, France IVIC, CMBC, Lab Genet Mol, Caracas 1020A, VenezuelaFeo, Oscar论文数: 0 引用数: 0 h-index: 0机构: IVIC, CMBC, Lab Genet Mol, Caracas 1020A, Venezuela IVIC, CMBC, Lab Genet Mol, Caracas 1020A, Venezuela
- [39] Clinical and diagnostic implications of whole-genome sequencing (WGS) of 42 patients affected by rare diseases: the first Italian experience on a diagnostic basis.EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 457 - 458Sirchia, F.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Burlo Garofalo Trieste, Trieste, Italy IRCCS Burlo Garofalo Trieste, Trieste, ItalyCarli, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Turin, Italy IRCCS Burlo Garofalo Trieste, Trieste, ItalyGiorgio, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Turin, Italy IRCCS Burlo Garofalo Trieste, Trieste, ItalySorasio, L.论文数: 0 引用数: 0 h-index: 0机构: Santa Croce & Carle Hosp, Cuneo, Italy IRCCS Burlo Garofalo Trieste, Trieste, ItalyFaletra, F.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Burlo Garofalo Trieste, Trieste, Italy IRCCS Burlo Garofalo Trieste, Trieste, ItalyFabretto, A.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Burlo Garofalo Trieste, Trieste, Italy IRCCS Burlo Garofalo Trieste, Trieste, ItalyGuidolin, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Padua, Italy IRCCS Burlo Garofalo Trieste, Trieste, Italy论文数: 引用数: h-index:机构:Belmont, J.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA USA IRCCS Burlo Garofalo Trieste, Trieste, ItalyOrtega, J.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA USA IRCCS Burlo Garofalo Trieste, Trieste, ItalyTaft, R.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA USA IRCCS Burlo Garofalo Trieste, Trieste, ItalyScocchia, A.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, San Diego, CA USA IRCCS Burlo Garofalo Trieste, Trieste, Italy论文数: 引用数: h-index:机构:Gasparini, P.论文数: 0 引用数: 0 h-index: 0机构: IRCCS Burlo Garofalo Trieste, Trieste, Italy IRCCS Burlo Garofalo Trieste, Trieste, Italy论文数: 引用数: h-index:机构:
- [40] Utility of clinical Whole Genome Sequencing (WGS): diagnostic success factors now and into the futureEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 542 - 542Lundie, B.论文数: 0 引用数: 0 h-index: 0机构: Genome One, Darlinghurst, NSW, Australia Genome One, Darlinghurst, NSW, AustraliaEwans, L.论文数: 0 引用数: 0 h-index: 0机构: Genome One, Darlinghurst, NSW, Australia NSW Hlth, Camperdown, NSW, Australia Genome One, Darlinghurst, NSW, AustraliaLee, E.论文数: 0 引用数: 0 h-index: 0机构: Genome One, Darlinghurst, NSW, Australia Genome One, Darlinghurst, NSW, AustraliaHollway, G.论文数: 0 引用数: 0 h-index: 0机构: Genome One, Darlinghurst, NSW, Australia Genome One, Darlinghurst, NSW, AustraliaOhnesorg, T.论文数: 0 引用数: 0 h-index: 0机构: Genome One, Darlinghurst, NSW, Australia Genome One, Darlinghurst, NSW, AustraliaStatham, A.论文数: 0 引用数: 0 h-index: 0机构: Genome One, Darlinghurst, NSW, Australia Genome One, Darlinghurst, NSW, AustraliaBurnett, L.论文数: 0 引用数: 0 h-index: 0机构: Genome One, Darlinghurst, NSW, Australia Garvan Inst Med Res, Darlinghurst, NSW, Australia Sydney Med Sch, St Leonards, NSW, Australia UNSW, St Vincents Clin Sch, Darlinghurst, NSW, Australia Genome One, Darlinghurst, NSW, AustraliaYoung, M.论文数: 0 引用数: 0 h-index: 0机构: Genome One, Darlinghurst, NSW, Australia Genome One, Darlinghurst, NSW, AustraliaTaouk, H.论文数: 0 引用数: 0 h-index: 0机构: Genome One, Darlinghurst, NSW, Australia Genome One, Darlinghurst, NSW, AustraliaRichardson, E.论文数: 0 引用数: 0 h-index: 0机构: Genome One, Darlinghurst, NSW, Australia Genome One, Darlinghurst, NSW, AustraliaDinger, M.论文数: 0 引用数: 0 h-index: 0机构: Genome One, Darlinghurst, NSW, Australia Garvan Inst Med Res, Darlinghurst, NSW, Australia Genome One, Darlinghurst, NSW, Australia