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- [1] Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosisGENETICS IN MEDICINE, 2018, 20 (11) : 1468 - 1471Powis, Zoe论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USAHagman, Kelly D. Farwell论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USASpeare, Virginia论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USACain, Taylor论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USABlanco, Kirsten论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USAMowlavi, Layla S.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USAMayerhofer, Emily M.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA CentraCare Clin, St Cloud, MN USA Ambry Genet, Aliso Viejo, CA 92656 USATilstra, David论文数: 0 引用数: 0 h-index: 0机构: CentraCare Clin, St Cloud, MN USA Ambry Genet, Aliso Viejo, CA 92656 USAVedder, Timothy论文数: 0 引用数: 0 h-index: 0机构: CentraCare Clin, St Cloud, MN USA Ambry Genet, Aliso Viejo, CA 92656 USAHunter, Jesse M.论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USATsang, Marilyn论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USAGonzalez, Lina论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Med Ctr, Pittsburgh, PA USA Ambry Genet, Aliso Viejo, CA 92656 USAVockley, Gerald论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Med Ctr, Pittsburgh, PA USA Ambry Genet, Aliso Viejo, CA 92656 USATang, Sha论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Aliso Viejo, CA 92656 USA Ambry Genet, Aliso Viejo, CA 92656 USA
- [2] Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yieldGENETICS IN MEDICINE, 2020, 22 (04) : 736 - 744Gubbels, Cynthia S.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USAVanNoy, Grace E.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USAMadden, Jill A.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USACopenheaver, Deborah论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USAYang, Sandra论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USAWojcik, Monica H.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Div Newborn Med, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USAGold, Nina B.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA Massachusetts Gen Hosp Children, Div Med Genet & Metab, Boston, MA USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USAGenetti, Casie A.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USAStoler, Joan论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USAParad, Richard B.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston, MA 02115 USA Brigham & Womens Hosp, Dept Pediat Newborn Med, 75 Francis St, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USARoumiantsev, Sergei论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston, MA 02115 USA Massachusetts Gen Hosp, Dept Pediat, Boston, MA 02114 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USABodamer, Olaf论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USABeggs, Alan H.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USAJuusola, Jane论文数: 0 引用数: 0 h-index: 0机构: GeneDx Inc, Gaithersburg, MD USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USAAgrawal, Pankaj B.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Div Newborn Med, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USAYu, Timothy W.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Harvard Med Sch, Boston, MA 02115 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston, MA 02115 USA Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA
- [3] The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous familiesEUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (04)Dardas, Zain论文数: 0 引用数: 0 h-index: 0机构: Jordan Univ Sci & Technol, Fac Appl Med Sci, Dept Med Lab Sci, Irbid, Jordan Univ Jordan, Sch Med, Dept Pathol & Microbiol & Forens Med, POB 13617,Queen Rania St, Amman 11942, Jordan Jordan Univ Sci & Technol, Fac Appl Med Sci, Dept Med Lab Sci, Irbid, Jordan论文数: 引用数: h-index:机构:Qassem, Ahmad Al-Sheikh论文数: 0 引用数: 0 h-index: 0机构: Dr Ahmad Qassem Clin, Amman, Jordan Jordan Univ Sci & Technol, Fac Appl Med Sci, Dept Med Lab Sci, Irbid, JordanAzab, Belal论文数: 0 引用数: 0 h-index: 0机构: Univ Jordan, Sch Med, Dept Pathol & Microbiol & Forens Med, POB 13617,Queen Rania St, Amman 11942, Jordan Virginia Commonwealth Univ, Med Coll Virginia, Human & Mol Genet, Richmond, VA 23298 USA Jordan Univ Sci & Technol, Fac Appl Med Sci, Dept Med Lab Sci, Irbid, Jordan
- [4] Whole Exome Sequencing in critically ill neonates and infants: diagnostic yield and predictability of monogenic diagnosesEUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 480 - 480Scholz, Tasja论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyBierhals, Tatjana论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyKortuem, Fanny论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyLessel, Davor论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyKubisch, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanySinger, Dominique论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Div Neonatol & Pediat Intens Care, Dept Pediat, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyBlohm, Martin Ernst论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Div Neonatol & Pediat Intens Care, Dept Pediat, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyPerez, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Div Neonatol & Pediat Intens Care, Dept Pediat, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyJohannsen, Jessika论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyDenecke, Jonas论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanySanter, Rene论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyDeindl, Philipp论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Div Neonatol & Pediat Intens Care, Dept Pediat, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyHempel, Maja论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany
- [5] Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomaliesEUROPEAN JOURNAL OF MEDICAL GENETICS, 2021, 64 (09)Lei, Ling论文数: 0 引用数: 0 h-index: 0机构: Chong Qing Hlth Ctr Women & Children, Chongqing 401120, Peoples R China Chong Qing Hlth Ctr Women & Children, Chongqing 401120, Peoples R ChinaZhou, Lan论文数: 0 引用数: 0 h-index: 0机构: Chong Qing Hlth Ctr Women & Children, Chongqing 401120, Peoples R China Chong Qing Hlth Ctr Women & Children, Chongqing 401120, Peoples R ChinaXiong, Jiao-jiao论文数: 0 引用数: 0 h-index: 0机构: Chong Qing Hlth Ctr Women & Children, Chongqing 401120, Peoples R China Chong Qing Hlth Ctr Women & Children, Chongqing 401120, Peoples R China
- [6] GeneYenta: A Phenotype-Based Rare Disease Case Matching Tool Based on Online Dating Algorithms for the Acceleration of Exome InterpretationHUMAN MUTATION, 2015, 36 (04) : 432 - 438Gottlieb, Michael M.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Grad Program Bioinformat, Vancouver, BC V5Z 1M9, Canada Univ British Columbia, Grad Program Bioinformat, Vancouver, BC V5Z 1M9, CanadaArenillas, David J.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Ctr Mol Med & Therapeut, Child & Family Res Inst, Dept Med Genet, Vancouver, BC V5Z 1M9, Canada Univ British Columbia, Grad Program Bioinformat, Vancouver, BC V5Z 1M9, CanadaMaithripala, Savanie论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V5Z 1M9, Canada Univ British Columbia, Grad Program Bioinformat, Vancouver, BC V5Z 1M9, CanadaMaurer, Zachary D.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Stanford, CA 94305 USA Univ British Columbia, Grad Program Bioinformat, Vancouver, BC V5Z 1M9, CanadaTarailo-Graovac, Maja论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Ctr Mol Med & Therapeut, Child & Family Res Inst, Dept Med Genet, Vancouver, BC V5Z 1M9, Canada Univ British Columbia, Grad Program Bioinformat, Vancouver, BC V5Z 1M9, CanadaArmstrong, Linlea论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V5Z 1M9, Canada Univ British Columbia, Grad Program Bioinformat, Vancouver, BC V5Z 1M9, CanadaPatel, Millan论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V5Z 1M9, Canada Univ British Columbia, Grad Program Bioinformat, Vancouver, BC V5Z 1M9, Canadavan Karnebeek, Clara论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Dept Med Genet, Vancouver, BC V5Z 1M9, Canada Univ British Columbia, Grad Program Bioinformat, Vancouver, BC V5Z 1M9, CanadaWasserman, Wyeth W.论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Ctr Mol Med & Therapeut, Child & Family Res Inst, Dept Med Genet, Vancouver, BC V5Z 1M9, Canada Univ British Columbia, Dept Med Genet, Vancouver, BC V5Z 1M9, Canada Univ British Columbia, Grad Program Bioinformat, Vancouver, BC V5Z 1M9, Canada
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- [8] Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic DiagnosisNEONATOLOGY, 2021, 118 (04) : 454 - 461Scholz, Tasja论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyBlohm, Martin Ernst论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Div Neonatol & Pediat Intens Care, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyKortum, Fanny论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyBierhals, Tatjana论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyLessel, Davor论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germanyvan der Ven, Amelie T.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyLisfeld, Jasmin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyHerget, Theresia论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyKloth, Katja论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanySinger, Dominique论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Div Neonatol & Pediat Intens Care, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyPerez, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Div Neonatol & Pediat Intens Care, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyObi, Nadia论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Med Biometr Epidemiol, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyJohannsen, Jessika论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyDenecke, Jonas论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanySanter, Rene论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyKubisch, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyDeindl, Philipp论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Pediat, Div Neonatol & Pediat Intens Care, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, GermanyHempel, Maja论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany
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