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- [1] Identification of novel alternative splice variants by long-read sequencingALCOHOL-CLINICAL AND EXPERIMENTAL RESEARCH, 2023, 47 : 132 - 133Farris, S. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Anesthesiol & Perioperat Med, Pittsburgh, PA 15261 USA Univ Pittsburgh, Dept Biomed Informat, Pittsburgh, PA 15261 USA Univ Pittsburgh, Ctr Neurosci, Pittsburgh, PA 15261 USA Univ Pittsburgh, Dept Anesthesiol & Perioperat Med, Pittsburgh, PA 15261 USA
- [2] Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencingGenome Medicine, 10Alba Sanchis-Juan论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyJonathan Stephens论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyCourtney E. French论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyNicholas Gleadall论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyKaryn Mégy论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyChristopher Penkett论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyOlga Shamardina论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyKathleen Stirrups论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyIsabelle Delon论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyEleanor Dewhurst论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyHelen Dolling论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyMarie Erwood论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyDetelina Grozeva论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyLuca Stefanucci论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyGavin Arno论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyAndrew R. Webster论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyTrevor Cole论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyTopun Austin论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyRicardo Garcia Branco论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyWillem H. Ouwehand论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyF. Lucy Raymond论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of HaematologyKeren J. Carss论文数: 0 引用数: 0 h-index: 0机构: University of Cambridge,Department of Haematology
- [3] Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencingGENOME MEDICINE, 2018, 10Sanchis-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, 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:French, Courtney E.论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Dept Paediat, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandGleadall, Nicholas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, 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: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, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandDelon, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandDewhurst, 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, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandDolling, Helen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, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandErwood, 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, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandGrozeva, Detelina论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Cambridge CB2 0XY, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandStefanucci, Luca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 Natl Hlth Serv Blood & Transplant NHSBT, Cambridge Biomed Campus, Cambridge CB2 0PT, England Addenbrookes Hosp, Div Cardiovasc Med, BHF Ctr Excellence, 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:Webster, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: UCL, UCL Inst Ophthalmol, London EC1V 9EL, England Moorfields Eye Hosp NHS Trust, London EC1V 2PD, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, EnglandCole, Trevor论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Birmingham, West Midlands Genom Med Ctr, Birmingham, W Midlands, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England论文数: 引用数: h-index:机构:Branco, Ricardo Garcia论文数: 0 引用数: 0 h-index: 0机构: Cambridge Univ Hosp NHS Fdn Trust, Cambridge CB2 0QQ, 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, Cambridge Biomed Campus, Cambridge CB2 0QQ, 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: Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England Cambridge Univ Hosp NHS Fdn Trust, NIHR BioResource, 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, EnglandCarss, 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, Cambridge Biomed Campus, Cambridge CB2 0QQ, England Univ Cambridge, NHS Blood & Transplant Ctr, Dept Haematol, Cambridge CB2 0PT, England
- [4] Improved Characterization of Complex β-Globin Gene Cluster Structural Variants Using Long-Read SequencingJOURNAL OF MOLECULAR DIAGNOSTICS, 2021, 23 (12): : 1732 - 1740Rangan, Aruna论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematopathol, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USAHein, Molly S.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematopathol, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USAJenkinson, William G.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Biomed Stat & Informat, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USAKoganti, Tejaswi论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Biomed Stat & Informat, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USAAleff, Ross A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Biochem & Mol Biol, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USAHilker, Christopher A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Adv Diagnost Lab, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USABlommel, Joseph H.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Adv Diagnost Lab, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USAPorter, Tavanna R.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematopathol, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USASwanson, Kenneth C.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematopathol, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USALundquist, Patrick论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USANguyen, Phuong L.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematopathol, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USAShi, Min论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematopathol, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USAHe, Rong论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematopathol, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USAViswanatha, David S.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematopathol, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USAJen, Jin论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USAKlee, Eric W.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Biomed Stat & Informat, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USAKipp, Benjamin R.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USAHoyer, James D.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematopathol, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USAWieben, Eric D.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Biochem & Mol Biol, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USAOliveira, Jennifer L.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Div Hematopathol, Rochester, MN 55905 USA Mayo Clin, Div Hematopathol, Rochester, MN 55905 USA
- [5] Screening for causative structural variants in neurological disorders using long-read sequencingEUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 671 - 672Ekholm, J.论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Pacific Biosci, Menlo Pk, CA USAKujawa, S.论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Pacific Biosci, Menlo Pk, CA USATsai, Y.论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Pacific Biosci, Menlo Pk, CA USAGreenberg, D.论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Pacific Biosci, Menlo Pk, CA USAHon, T.论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Pacific Biosci, Menlo Pk, CA USAEng, K.论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Pacific Biosci, Menlo Pk, CA USAWenger, A.论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Pacific Biosci, Menlo Pk, CA USATseng, E.论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Pacific Biosci, Menlo Pk, CA USAWang, J.论文数: 0 引用数: 0 h-index: 0机构: Integrated DNA Technol, Coralville, IA USA Pacific Biosci, Menlo Pk, CA USAJarosz, M.论文数: 0 引用数: 0 h-index: 0机构: Integrated DNA Technol, Coralville, IA USA Pacific Biosci, Menlo Pk, CA USAGiorda, K.论文数: 0 引用数: 0 h-index: 0机构: Integrated DNA Technol, Coralville, IA USA Pacific Biosci, Menlo Pk, CA USAClark, T.论文数: 0 引用数: 0 h-index: 0机构: Pacific Biosci, Menlo Pk, CA USA Pacific Biosci, Menlo Pk, CA USA
- [6] Application of long-read sequencing to the detection of structural variants in human cancer genomesCOMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL, 2021, 19 : 4207 - 4216Sakamoto, Yoshitaka论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, 5-1-5 Kashiwanoha, Kashiwa, Chiba 2778561, Japan Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, 5-1-5 Kashiwanoha, Kashiwa, Chiba 2778561, JapanZaha, Suzuko论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, 5-1-5 Kashiwanoha, Kashiwa, Chiba 2778561, Japan Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, 5-1-5 Kashiwanoha, Kashiwa, Chiba 2778561, JapanSuzuki, Yutaka论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, 5-1-5 Kashiwanoha, Kashiwa, Chiba 2778561, Japan Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, 5-1-5 Kashiwanoha, Kashiwa, Chiba 2778561, JapanSeki, Masahide论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, 5-1-5 Kashiwanoha, Kashiwa, Chiba 2778561, Japan Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, 5-1-5 Kashiwanoha, Kashiwa, Chiba 2778561, JapanSuzuki, Ayako论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, 5-1-5 Kashiwanoha, Kashiwa, Chiba 2778561, Japan Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, 5-1-5 Kashiwanoha, Kashiwa, Chiba 2778561, Japan
- [7] Long-Read Sequencing Resolves Complex Structural Variants and Identifies Missing Disease-Causing Variants in Unsolved Cases of HemophiliaBLOOD, 2022, 140 : 10716 - 10717Miller, Danny E.论文数: 0 引用数: 0 h-index: 0机构: Seattle Childrens Hosp, Dept Pediat, Seattle, WA USA Univ Washington, Dept Genome Sci, Seattle, WA USA Brotman Baty Inst Precis Med, Seattle, WA USA Univ Washington, Dept Lab Med & Pathol, Seattle, WA USA Seattle Childrens Hosp, Dept Pediat, Seattle, WA USAGaley, Miranda论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA USA Seattle Childrens Hosp, Dept Pediat, Seattle, WA USAFletcher, Shelley N.论文数: 0 引用数: 0 h-index: 0机构: Bloodworks Res Inst, Seattle, WA USA Seattle Childrens Hosp, Dept Pediat, Seattle, WA USALannert, Kerry论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Med, Div Hematol, Sch Med, Seattle, WA USA Seattle Childrens Hosp, Dept Pediat, Seattle, WA USAWheeler, Marsha M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Washington, MD USA Seattle Childrens Hosp, Dept Pediat, Seattle, WA USAKandhaya-Pillai, Renuka论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Lab Med & Pathol, Seattle, WA USA Seattle Childrens Hosp, Dept Pediat, Seattle, WA USAOshima, Junko论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Lab Med & Pathol, Seattle, WA USA Seattle Childrens Hosp, Dept Pediat, Seattle, WA USAKonkle, Barbara A.论文数: 0 引用数: 0 h-index: 0机构: Washington Ctr Bleeding Disorders, Washington Inst Coagulat, Seattle, WA USA Univ Washington, Dept Med, Seattle, WA USA Seattle Childrens Hosp, Dept Pediat, Seattle, WA USAEichler, Evan E.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA USA Brotman Baty Inst Precis Med, Seattle, WA USA Howard Hughes Med Inst, Seattle, WA USA Seattle Childrens Hosp, Dept Pediat, Seattle, WA USAJohnsen, Jill M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Med, Seattle, WA USA Bloodworks NW, Seattle, WA USA Washington Ctr Bleeding Disorders, Seattle, WA USA Seattle Childrens Hosp, Dept Pediat, Seattle, WA USA
- [8] Long-read genome sequencing identifies cryptic structural variants in congenital aniridia casesHUMAN GENOMICS, 2023, 17 (01)Damian, Alejandra论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, Spain Ctr Biomed Network Res Rare Dis CIBERER, Madrid 28029, Spain Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, SpainNunez-Moreno, Gonzalo论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, Spain Ctr Biomed Network Res Rare Dis CIBERER, Madrid 28029, Spain Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Bioinformat Unit, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, Spain Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, SpainJubin, Claire论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Ctr Natl Rech Genom Humaine, F-91057 Evry, France Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, SpainTamayo, Alejandra论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, Spain Ctr Biomed Network Res Rare Dis CIBERER, Madrid 28029, Spain Univ Alcala, Fac Med & Hlth Sci Sci & Technol Campus, Dept Surg Med & Social Sci, Alcala De Henares 28871, Spain Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, Spainde Alba, Marta Rodriguez论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, Spain Ctr Biomed Network Res Rare Dis CIBERER, Madrid 28029, Spain Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, SpainVillaverde, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, Spain Ctr Biomed Network Res Rare Dis CIBERER, Madrid 28029, Spain Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, SpainFund, Cedric论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Ctr Natl Rech Genom Humaine, F-91057 Evry, France Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, SpainDelepine, Marc论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Ctr Natl Rech Genom Humaine, F-91057 Evry, France Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, SpainLeduc, Aurelie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Ctr Natl Rech Genom Humaine, F-91057 Evry, France Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, SpainDeleuze, Jean Francois论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Saclay, Ctr Natl Rech Genom Humaine, F-91057 Evry, France Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, SpainMinguez, Pablo论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, Spain Ctr Biomed Network Res Rare Dis CIBERER, Madrid 28029, Spain Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Bioinformat Unit, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, Spain Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, SpainAyuso, Carmen论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, Spain Ctr Biomed Network Res Rare Dis CIBERER, Madrid 28029, Spain Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, SpainCorton, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, Spain Ctr Biomed Network Res Rare Dis CIBERER, Madrid 28029, Spain Univ Autonoma Madrid, Fdn Jimenez Diaz Univ Hosp, Dept Genet & Genom, Inst Invest Sanit,IIS FJD,UAM, Madrid 28040, Spain
- [9] Long-read genome sequencing identifies cryptic structural variants in congenital aniridia casesHuman Genomics, 17Alejandra Damián论文数: 0 引用数: 0 h-index: 0机构: Universidad Autónoma de Madrid (IIS-FJD,Department of Genetics & Genomics, Instituto de Investigación SanitariaGonzalo Núñez-Moreno论文数: 0 引用数: 0 h-index: 0机构: Universidad Autónoma de Madrid (IIS-FJD,Department of Genetics & Genomics, Instituto de Investigación SanitariaClaire Jubin论文数: 0 引用数: 0 h-index: 0机构: Universidad Autónoma de Madrid (IIS-FJD,Department of Genetics & Genomics, Instituto de Investigación SanitariaAlejandra Tamayo论文数: 0 引用数: 0 h-index: 0机构: Universidad Autónoma de Madrid (IIS-FJD,Department of Genetics & Genomics, Instituto de Investigación SanitariaMarta Rodríguez de Alba论文数: 0 引用数: 0 h-index: 0机构: Universidad Autónoma de Madrid (IIS-FJD,Department of Genetics & Genomics, Instituto de Investigación SanitariaCristina Villaverde论文数: 0 引用数: 0 h-index: 0机构: Universidad Autónoma de Madrid (IIS-FJD,Department of Genetics & Genomics, Instituto de Investigación SanitariaCédric Fund论文数: 0 引用数: 0 h-index: 0机构: Universidad Autónoma de Madrid (IIS-FJD,Department of Genetics & Genomics, Instituto de Investigación SanitariaMarc Delépine论文数: 0 引用数: 0 h-index: 0机构: Universidad Autónoma de Madrid (IIS-FJD,Department of Genetics & Genomics, Instituto de Investigación SanitariaAurélie Leduc论文数: 0 引用数: 0 h-index: 0机构: Universidad Autónoma de Madrid (IIS-FJD,Department of Genetics & Genomics, Instituto de Investigación SanitariaJean François Deleuze论文数: 0 引用数: 0 h-index: 0机构: Universidad Autónoma de Madrid (IIS-FJD,Department of Genetics & Genomics, Instituto de Investigación SanitariaPablo Mínguez论文数: 0 引用数: 0 h-index: 0机构: Universidad Autónoma de Madrid (IIS-FJD,Department of Genetics & Genomics, Instituto de Investigación SanitariaCarmen Ayuso论文数: 0 引用数: 0 h-index: 0机构: Universidad Autónoma de Madrid (IIS-FJD,Department of Genetics & Genomics, Instituto de Investigación SanitariaMarta Corton论文数: 0 引用数: 0 h-index: 0机构: Universidad Autónoma de Madrid (IIS-FJD,Department of Genetics & Genomics, Instituto de Investigación Sanitaria
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