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- [21] 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
- [22] Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 triosGENETICS IN MEDICINE, 2015, 17 (10) : 774 - 781Zhu, Xiaolin论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAPetrovski, Slave论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Univ Melbourne, Austin Hlth, Dept Med, Melbourne, Vic, Australia Royal Melbourne Hosp, Melbourne, Vic, Australia Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAXie, Pingxing论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USARuzzo, Elizabeth K.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USALu, Yi-Fan论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAMcSweeney, K. Melodi论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USABen-Zeev, Bruria论文数: 0 引用数: 0 h-index: 0机构: Edmond & Lily Safra Childrens Hosp, Chaim Sheba Med Ctr, Ramat Gan, Israel Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USANissenkorn, Andreea论文数: 0 引用数: 0 h-index: 0机构: Edmond & Lily Safra Childrens Hosp, Chaim Sheba Med Ctr, Ramat Gan, Israel Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAAnikster, Yair论文数: 0 引用数: 0 h-index: 0机构: Edmond & Lily Safra Childrens Hosp, Chaim Sheba Med Ctr, Ramat Gan, Israel Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAOz-Levi, Danit论文数: 0 引用数: 0 h-index: 0机构: Weizmann Inst Sci, Dept Mol Genet, IL-76100 Rehovot, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USADhindsa, Ryan S.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAHitomi, Yuki论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USASchoch, Kelly论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Dept Pediat, Sch Med, Durham, NC 27706 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USASpillmann, Rebecca C.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAHeimer, Gali论文数: 0 引用数: 0 h-index: 0机构: Edmond & Lily Safra Childrens Hosp, Chaim Sheba Med Ctr, Ramat Gan, Israel Chaim Sheba Med Ctr, Pinchas Borenstein Talpiot Med Leadership Program, Pediat Neurol Unit, IL-52621 Tel Hashomer, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAMarek-Yagel, Dina论文数: 0 引用数: 0 h-index: 0机构: Edmond & Lily Childrens Hosp, Chaim Sheba Med Ctr, Metab Dis Unit, Ramat Gan, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USATzadok, Michal论文数: 0 引用数: 0 h-index: 0机构: Edmond & Lily Safra Childrens Hosp, Chaim Sheba Med Ctr, Ramat Gan, Israel Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAHan, Yujun论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA论文数: 引用数: h-index:机构:Goldstein, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Dept Pediat, Sch Med, Durham, NC 27706 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAJiang, Yong-Hui论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Dept Pediat, Sch Med, Durham, NC 27706 USA Duke Univ, Dept Neurobiol, Durham, NC USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA论文数: 引用数: h-index:机构:Pras, Elon论文数: 0 引用数: 0 h-index: 0机构: Edmond & Lily Safra Childrens Hosp, Chaim Sheba Med Ctr, Ramat Gan, Israel Chaim Sheba Med Ctr, Danek Gertner Inst Human Genet, Ramat Gan, Israel Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAShashi, Vandana论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Dept Pediat, Sch Med, Durham, NC 27706 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAMcHale, Duncan论文数: 0 引用数: 0 h-index: 0机构: UCB NewMed, Slough, Berks, England Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USANeed, Anna C.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Univ London Imperial Coll Sci Technol & Med, Dept Med, Div Brain Sci, London, England Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USAGoldstein, David B.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA Duke Univ, Sch Med, Ctr Human Genome Variat, Durham, NC 27708 USA
- [23] Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and BeyondGENES, 2023, 14 (06)论文数: 引用数: h-index:机构:Ambrosini, Enrico论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, Italy Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, ItalyUliana, Vera论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Parma, Med Genet, I-43126 Parma, Italy Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, ItalyBellini, Melissa论文数: 0 引用数: 0 h-index: 0机构: Guglielmo da Saliceto Hosp, Dept Pediat & Neonatol, I-29121 Piacenza, Italy Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, ItalyVitetta, Giulia论文数: 0 引用数: 0 h-index: 0机构: Univ Bologna, Med Genet, I-40138 Bologna, Italy Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, ItalyMartorana, Davide论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Parma, Med Genet, I-43126 Parma, Italy Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, ItalyCannizzaro, Ilenia Rita论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, Italy Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, ItalyTaiani, Antonietta论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, Italy Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, ItalyDe Sensi, Erika论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, Italy Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, ItalyCaggiati, Patrizia论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Parma, Med Genet, I-43126 Parma, Italy Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, ItalyHilton, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut Infect & Genom, Manchester M13 9PL, England Manchester Univ Fdn NHS Trust, Hlth Innovat Manchester, St Marys Hosp, Manchester Ctr Genom Med, Manchester M13 9WL, England Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, ItalyBanka, Siddharth论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Fac Biol Med & Hlth, Sch Biol Sci, Div Evolut Infect & Genom, Manchester M13 9PL, England Manchester Univ Fdn NHS Trust, Hlth Innovat Manchester, St Marys Hosp, Manchester Ctr Genom Med, Manchester M13 9WL, England Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, ItalyPercesepe, Antonio论文数: 0 引用数: 0 h-index: 0机构: Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, Italy Univ Hosp Parma, Med Genet, I-43126 Parma, Italy Univ Parma, Dept Med & Surg, Med Genet, I-43126 Parma, Italy
- [24] COST-EFFECTIVENESS OF WHOLE EXOME AND WHOLE GENOME SEQUENCING FOR CHILDREN WITH RARE AND UNDIAGNOSED CONDITIONSMEDICAL DECISION MAKING, 2021, 41 (04) : E15 - E16Lavelle, Tara论文数: 0 引用数: 0 h-index: 0机构: Tufts Med Ctr, Ctr Evaluat Value & Risk Hlth, Boston, MA 02111 USA Tufts Med Ctr, Ctr Evaluat Value & Risk Hlth, Boston, MA 02111 USAFeng, Xue论文数: 0 引用数: 0 h-index: 0机构: Tufts Med Ctr, Ctr Evaluat Value & Risk Hlth, Boston, MA 02111 USA Tufts Med Ctr, Ctr Evaluat Value & Risk Hlth, Boston, MA 02111 USAKeisler, Marlena论文数: 0 引用数: 0 h-index: 0机构: Tufts Med Ctr, Ctr Evaluat Value & Risk Hlth, Boston, MA 02111 USA Tufts Med Ctr, Ctr Evaluat Value & Risk Hlth, Boston, MA 02111 USACohen, Joshua T.论文数: 0 引用数: 0 h-index: 0机构: Tufts Med Ctr, Ctr Evaluat Value & Risk Hlth, Boston, MA 02111 USA Tufts Med Ctr, Ctr Evaluat Value & Risk Hlth, Boston, MA 02111 USANeumann, Peter论文数: 0 引用数: 0 h-index: 0机构: Tufts Med Ctr, Ctr Evaluat Value & Risk Hlth, Boston, MA 02111 USA Tufts Med Ctr, Ctr Evaluat Value & Risk Hlth, Boston, MA 02111 USAPrichard, Daryl论文数: 0 引用数: 0 h-index: 0机构: Personalized Med Coalit, Washington, DC USA Tufts Med Ctr, Ctr Evaluat Value & Risk Hlth, Boston, MA 02111 USASchroeder, Brock论文数: 0 引用数: 0 h-index: 0机构: Illumina, San Diego, CA USA Tufts Med Ctr, Ctr Evaluat Value & Risk Hlth, Boston, MA 02111 USASalyakina, Dania论文数: 0 引用数: 0 h-index: 0机构: Nicklaus Childrens Hosp, Personalized Med & Hlth Outcomes Res, Miami, FL USA Tufts Med Ctr, Ctr Evaluat Value & Risk Hlth, Boston, MA 02111 USAEspinal, Paula论文数: 0 引用数: 0 h-index: 0机构: Nicklaus Childrens Hosp, Personalized Med Initiat, Miami, FL USA Tufts Med Ctr, Ctr Evaluat Value & Risk Hlth, Boston, MA 02111 USAMaron, Jill论文数: 0 引用数: 0 h-index: 0机构: Tufts Med Ctr, Mother Infant Res Inst, Boston, MA 02111 USA Tufts Med Ctr, Ctr Evaluat Value & Risk Hlth, Boston, MA 02111 USA
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