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- [1] Clinical utility of whole-exome sequencing in rare diseases: GalactosialidosisEUROPEAN JOURNAL OF MEDICAL GENETICS, 2014, 57 (07) : 339 - 344Prada, Carlos E.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Cardiovasc Fdn Colombia, Ctr Genom Med & Metab, Floridablanca, Colombia Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USAGonzaga-Jauregui, Claudia论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USATannenbaum, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USAPenney, Samantha论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Ctr Mendelian Genom, Houston, TX USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USALupski, James R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Ctr Mendelian Genom, Houston, TX USA Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA Texas Childrens Hosp, Houston, TX 77030 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USAHopkin, Robert J.论文数: 0 引用数: 0 h-index: 0机构: Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USASutton, V. Reid论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Ctr Mendelian Genom, Houston, TX USA Texas Childrens Hosp, Houston, TX 77030 USA Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA
- [2] Whole genome sequencing (WGS), whole exome sequencing (WES) and clinical exome sequencing (CES) in patient careLABORATORIUMSMEDIZIN-JOURNAL OF LABORATORY MEDICINE, 2014, 38 (04): : 221 - 230Klein, Hanns-Georg论文数: 0 引用数: 0 h-index: 0机构: Dr Rost & Colleagues, Ctr Human Genet, D-82152 Martinsried, Germany Dr Rost & Colleagues, Ctr Human Genet, D-82152 Martinsried, GermanyBauer, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Med Genet & Appl Gen, Tubingen, Germany Dr Rost & Colleagues, Ctr Human Genet, D-82152 Martinsried, GermanyHambuch, Tina论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, Illumina Clin Serv Lab, San Diego, CA USA Dr Rost & Colleagues, Ctr Human Genet, D-82152 Martinsried, Germany
- [3] DIAGNOSTIC AND CLINICAL UTILITY OF WHOLE EXOME SEQUENCING IN IMMUNE DISEASESINTERNAL MEDICINE JOURNAL, 2018, 48 : 29 - 30Slade, Charlotte A.论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Walter & Eliza Hall Inst Med Res, Immunol Div, Melbourne, Vic, Australia Univ Melbourne, Sch Med Biol, Melbourne, Vic, Australia Melbourne Genom Hlth Alliance, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaMoghaddas, Fiona论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Sch Med Biol, Melbourne, Vic, Australia Walter & Eliza Hall Inst Med Res, Inflammat Div, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaMasters, Seth论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Sch Med Biol, Melbourne, Vic, Australia Walter & Eliza Hall Inst Med Res, Inflammat Div, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaWinship, Ingrid论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Clin Genet, Melbourne, Vic, Australia Univ Melbourne, Sch Med, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaWest, Kirsty论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Clin Genet, Melbourne, Vic, Australia Univ Melbourne, Sch Med, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaTrainer, Alison论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Clin Genet, Melbourne, Vic, Australia Univ Melbourne, Sch Med, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaOjaimi, Samar论文数: 0 引用数: 0 h-index: 0机构: Monash Hlth, Dept Immunol, Melbourne, Vic, Australia Monash Univ, Dept Paediat, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaHunter, Matthew论文数: 0 引用数: 0 h-index: 0机构: Monash Univ, Dept Paediat, Melbourne, Vic, Australia Monash Hlth, Dept Genet, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia论文数: 引用数: h-index:机构:Nicholls, Katherine论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaPatel, Mittal论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaAuyeung, Priscilla论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaSpriggs, Kymble论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Univ Melbourne, Sch Med, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaMcComish, Jeremy论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaUnglik, Gary论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaDe Luca, Joseph论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaChan, Samantha论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaValente, Giulia论文数: 0 引用数: 0 h-index: 0机构: Austin Hlth, Clin Genet, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaLunke, Sebastian论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic, Australia Murdoch Childrens Res Inst, Parkville, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaStark, Zornitza论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic, Australia Murdoch Childrens Res Inst, Parkville, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaJarmolowicz, Anna论文数: 0 引用数: 0 h-index: 0机构: Murdoch Childrens Res Inst, Victorian Clin Genet Serv, Parkville, Vic, Australia Murdoch Childrens Res Inst, Parkville, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaHosking, Laine论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australiavan Dort, Ben论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaCole, Theresa论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaSmart, Jo论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaChoo, Sharon论文数: 0 引用数: 0 h-index: 0机构: Royal Childrens Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaLynch, Elly论文数: 0 引用数: 0 h-index: 0机构: Melbourne Genom Hlth Alliance, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Parkville, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaGaff, Clara论文数: 0 引用数: 0 h-index: 0机构: Melbourne Genom Hlth Alliance, Melbourne, Vic, Australia Murdoch Childrens Res Inst, Parkville, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaDouglass, Jo A.论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Melbourne Genom Hlth Alliance, Melbourne, Vic, Australia Univ Melbourne, Sch Med, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, AustraliaBryant, Vanessa L.论文数: 0 引用数: 0 h-index: 0机构: Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia Walter & Eliza Hall Inst Med Res, Immunol Div, Melbourne, Vic, Australia Univ Melbourne, Sch Med Biol, Melbourne, Vic, Australia Melbourne Genom Hlth Alliance, Melbourne, Vic, Australia Royal Melbourne Hosp, Dept Clin Immunol & Allergy, Melbourne, Vic, Australia
- [4] The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practiceCLINICAL GENETICS, 2015, 88 (04) : 313 - 319Nguyen, M. T.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Ctr Genom & Policy, Montreal, PQ, Canada McGill Univ, Ctr Genom & Policy, Montreal, PQ, CanadaCharlebois, K.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Ctr Genom & Policy, Montreal, PQ, Canada
- [5] Exome Sequencing Deciphers Rare DiseasesCELL, 2011, 144 (05) : 635 - 637Maxmen, Amy论文数: 0 引用数: 0 h-index: 0
- [6] ESTIMATING THE VALUE OF WHOLE EXOME SEQUENCING FOR PARENTS OF CHILDREN WITH RARE GENETIC DISEASESVALUE IN HEALTH, 2015, 18 (03) : A286 - A286Marshall, D. A.论文数: 0 引用数: 0 h-index: 0机构: Alberta Bone & Joint Hlth Inst, Calgary, AB, Canada Alberta Bone & Joint Hlth Inst, Calgary, AB, CanadaMacDonald, K., V论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Calgary, AB, Canada Alberta Bone & Joint Hlth Inst, Calgary, AB, CanadaLopatina, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Calgary, Calgary, AB, Canada Alberta Bone & Joint Hlth Inst, Calgary, AB, CanadaMackenzie, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Alberta Bone & Joint Hlth Inst, Calgary, AB, CanadaHartley, T.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Alberta Bone & Joint Hlth Inst, Calgary, AB, CanadaBoycott, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada Alberta Bone & Joint Hlth Inst, Calgary, AB, Canada
- [7] Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseasesSCIENTIFIC REPORTS, 2024, 14 (01):Slaba, Katerina论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicPokorna, Petra论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Cent European Inst Technol, Brno, Czech Republic Masaryk Univ, Dept Biol, Fac Med, Kamenice 5, Kamenice 62500, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicJugas, Robin论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Cent European Inst Technol, Brno, Czech Republic Masaryk Univ, Dept Biol, Fac Med, Kamenice 5, Kamenice 62500, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicPalova, Hana论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Cent European Inst Technol, Brno, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech Republic论文数: 引用数: h-index:机构:Aulicka, Stefania论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Univ Hosp Brno, Dept Pediat Neurol, Fac Med, Brno, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicSpanelova, Klara论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Univ Hosp Brno, Dept Pediat Neurol, Fac Med, Brno, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicDanhofer, Pavlina论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Univ Hosp Brno, Dept Pediat Neurol, Fac Med, Brno, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicHorak, Ondrej论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Univ Hosp Brno, Dept Pediat Neurol, Fac Med, Brno, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicTuckova, Jana论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech Republic论文数: 引用数: h-index:机构:Gaillyova, Renata论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Brno, Masaryk Univ Brno, Dept Med Genet & Genom, Fac Med, Brno, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicHrunka, Matej论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicJouza, Martin论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicPinkova, Blanka论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicPapez, Jan论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicKonecna, Petra论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicZidkova, Jana论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Dept Hematol Oncol & Internal Med, Ctr Mol Biol & Genet, Brno, Czech Republic Univ Hosp Brno, Brno, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicStourac, Petr论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Brno, Dept Pediat Anesthesiol & Intens Care Med, Brno, Czech Republic Masaryk Univ, Fac Med, Brno, Czech Republic Masaryk Univ, Fac Med, Dept Simulat Med, Brno, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicSterba, Jaroslav论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Univ Hosp Brno, Dept Pediat Oncol, Fac Med, Brno, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicDemlova, Regina论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Fac Med, Dept Pharmacol, CZECRIN, Brno, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicDemlova, Eva论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Fac Med, Dept Pharmacol, CZECRIN, Brno, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicJabandziev, Petr论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech Republic Masaryk Univ, Cent European Inst Technol, Brno, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech RepublicSlaby, Ondrej论文数: 0 引用数: 0 h-index: 0机构: Masaryk Univ, Cent European Inst Technol, Brno, Czech Republic Masaryk Univ, Dept Biol, Fac Med, Kamenice 5, Kamenice 62500, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pathol, Ctr Precis Med,Fac Med, Brno, Czech Republic Masaryk Univ, Univ Hosp Brno, Dept Pediat, Fac Med, Cernopolni 9, Brno 61300, Czech Republic
- [8] The Clinical Utility of Clinical Whole Exome SequencingJOURNAL OF MOLECULAR DIAGNOSTICS, 2014, 16 (06): : 706 - 706Tumer, S. A.论文数: 0 引用数: 0 h-index: 0机构: Geisel Sch Med Dartmouth, Lebanon, NH USA Dartmouth Hitchcock Med Ctr, Lebanon, NH 03766 USA Dartmouth Hitchcock Med Ctr, Norris Cotton Canc Ctr, Lebanon, NH 03766 USA Geisel Sch Med Dartmouth, Lebanon, NH USASteinmetz, H. B.论文数: 0 引用数: 0 h-index: 0机构: Geisel Sch Med Dartmouth, Lebanon, NH USA Dartmouth Hitchcock Med Ctr, Lebanon, NH 03766 USA Geisel Sch Med Dartmouth, Lebanon, NH USADinulos, M. P.论文数: 0 引用数: 0 h-index: 0机构: Geisel Sch Med Dartmouth, Lebanon, NH USA Dartmouth Hitchcock Med Ctr, Lebanon, NH 03766 USA Geisel Sch Med Dartmouth, Lebanon, NH USAMoeschler, J. B.论文数: 0 引用数: 0 h-index: 0机构: Geisel Sch Med Dartmouth, Lebanon, NH USA Dartmouth Hitchcock Med Ctr, Lebanon, NH 03766 USA Geisel Sch Med Dartmouth, Lebanon, NH USAVallee, S. E.论文数: 0 引用数: 0 h-index: 0机构: Geisel Sch Med Dartmouth, Lebanon, NH USA Dartmouth Hitchcock Med Ctr, Lebanon, NH 03766 USA Geisel Sch Med Dartmouth, Lebanon, NH USAUpton, S. J.论文数: 0 引用数: 0 h-index: 0机构: Geisel Sch Med Dartmouth, Lebanon, NH USA Dartmouth Hitchcock Med Ctr, Lebanon, NH 03766 USA Geisel Sch Med Dartmouth, Lebanon, NH USATafe, L. J.论文数: 0 引用数: 0 h-index: 0机构: Geisel Sch Med Dartmouth, Lebanon, NH USA Dartmouth Hitchcock Med Ctr, Lebanon, NH 03766 USA Geisel Sch Med Dartmouth, Lebanon, NH USAChen, R.论文数: 0 引用数: 0 h-index: 0机构: Personalis Inc, Menlo Pk, CA USA Geisel Sch Med Dartmouth, Lebanon, NH USAGarcia, S.论文数: 0 引用数: 0 h-index: 0机构: Personalis Inc, Menlo Pk, CA USA Geisel Sch Med Dartmouth, Lebanon, NH USAChurch, D.论文数: 0 引用数: 0 h-index: 0机构: Personalis Inc, Menlo Pk, CA USA Geisel Sch Med Dartmouth, Lebanon, NH USATirch, J.论文数: 0 引用数: 0 h-index: 0机构: Personalis Inc, Menlo Pk, CA USA Geisel Sch Med Dartmouth, Lebanon, NH USAHuang, A.论文数: 0 引用数: 0 h-index: 0机构: Personalis Inc, Menlo Pk, CA USA Geisel Sch Med Dartmouth, Lebanon, NH USALefferts, J. A.论文数: 0 引用数: 0 h-index: 0机构: Geisel Sch Med Dartmouth, Lebanon, NH USA Dartmouth Hitchcock Med Ctr, Lebanon, NH 03766 USA Geisel Sch Med Dartmouth, Lebanon, NH USATsongalis, G. J.论文数: 0 引用数: 0 h-index: 0机构: Geisel Sch Med Dartmouth, Lebanon, NH USA Dartmouth Hitchcock Med Ctr, Lebanon, NH 03766 USA Dartmouth Hitchcock Med Ctr, Norris Cotton Canc Ctr, Lebanon, NH 03766 USA Geisel Sch Med Dartmouth, Lebanon, NH USA
- [9] Whole exome sequencing analysis pipeline for the discovery of mutations causative of human rare diseasesPROCEEDINGS IWBBIO 2013: INTERNATIONAL WORK-CONFERENCE ON BIOINFORMATICS AND BIOMEDICAL ENGINEERING, 2013, : 253 - 254Lopez Domingo, Francisco J.论文数: 0 引用数: 0 h-index: 0机构: Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, Spain Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, SpainRueda, Antonio论文数: 0 引用数: 0 h-index: 0机构: Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, Spain Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, SpainPerez Florido, Javier论文数: 0 引用数: 0 h-index: 0机构: Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, Spain Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, SpainVela Boza, Alicia论文数: 0 引用数: 0 h-index: 0机构: Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, Spain Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, SpainMiguel Cruz, Luis论文数: 0 引用数: 0 h-index: 0机构: Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, Spain Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, SpainEscalante, Javier论文数: 0 引用数: 0 h-index: 0机构: Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, Spain Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, SpainIsabel Lopez, Ana论文数: 0 引用数: 0 h-index: 0机构: Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, Spain Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, SpainTrombetta, Federica论文数: 0 引用数: 0 h-index: 0机构: Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, Spain Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, SpainAntinolo, Guillermo论文数: 0 引用数: 0 h-index: 0机构: Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, Spain Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, SpainSantoyo, Javier论文数: 0 引用数: 0 h-index: 0机构: Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, Spain Andalusian Human Genome Sequencing Ctr CASEGH, Med Genome Project MGP, Seville 41092, Spain
- [10] Clinical or whole exome sequencing for mutation analysis in families with rare genetic syndromes?EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 221 - 221Paszekova, Helena论文数: 0 引用数: 0 h-index: 0机构: GHC Genet, Prague, Czech Republic GHC Genet, Prague, Czech RepublicHruskova, Lucie论文数: 0 引用数: 0 h-index: 0机构: GHC Genet, Prague, Czech Republic GHC Genet, Prague, Czech RepublicPis, Tomas论文数: 0 引用数: 0 h-index: 0机构: GHC Genet, Prague, Czech Republic GHC Genet, Prague, Czech RepublicVlckova, Zdenka论文数: 0 引用数: 0 h-index: 0机构: GHC Genet, Prague, Czech Republic GHC Genet, Prague, Czech RepublicMichalovska, Renata论文数: 0 引用数: 0 h-index: 0机构: GHC Genet, Prague, Czech Republic GHC Genet, Prague, Czech Republic