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- [31] Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analysesBMC GENOMICS, 2024, 25 (01)Kvapilova, Katerina论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Fac Sci, Albertov 6, Prague 12800, Czech Republic Inst Appl Biotechnol AS, Sluzeb 4, Prague 10800, Czech Republic Charles Univ Prague, Fac Sci, Albertov 6, Prague 12800, Czech RepublicMisenko, Pavol论文数: 0 引用数: 0 h-index: 0机构: Geneton Sro, Ilkovicova 8, Bratislava 84104, Slovakia Charles Univ Prague, Fac Sci, Albertov 6, Prague 12800, Czech Republic论文数: 引用数: h-index:机构:Brzon, Ondrej论文数: 0 引用数: 0 h-index: 0机构: Inst Appl Biotechnol AS, Sluzeb 4, Prague 10800, Czech Republic Charles Univ Prague, Fac Sci, Albertov 6, Prague 12800, Czech Republic论文数: 引用数: h-index:机构:Gazdarica, Juraj论文数: 0 引用数: 0 h-index: 0机构: Geneton Sro, Ilkovicova 8, Bratislava 84104, Slovakia Comenius Univ, Comenius Univ Sci Pk,Ilkovicova 8, Bratislava 84104, Slovakia Slovak Ctr Sci & Tech Informat, Lamacska Cesta 8A, Bratislava 81104, Slovakia Charles Univ Prague, Fac Sci, Albertov 6, Prague 12800, Czech RepublicPos, Ondrej论文数: 0 引用数: 0 h-index: 0机构: Geneton Sro, Ilkovicova 8, Bratislava 84104, Slovakia Comenius Univ, Comenius Univ Sci Pk,Ilkovicova 8, Bratislava 84104, Slovakia Charles Univ Prague, Fac Sci, Albertov 6, Prague 12800, Czech RepublicKorabecna, Marie论文数: 0 引用数: 0 h-index: 0机构: Charles Univ Prague, Inst Biol & Med Genet, Fac Med 1, Albertov 4, Prague 12800, Czech Republic Gen Univ Hosp Prague, Albertov 4, Prague 12800, Czech Republic Charles Univ Prague, Fac Sci, Albertov 6, Prague 12800, Czech RepublicKasny, Martin论文数: 0 引用数: 0 h-index: 0机构: Inst Appl Biotechnol AS, Sluzeb 4, Prague 10800, Czech Republic Masaryk Univ, Fac Sci, Dept Bot & Zool, Kotlarska 2, Brno 61137, Czech Republic Charles Univ Prague, Fac Sci, Albertov 6, Prague 12800, Czech Republic论文数: 引用数: h-index:机构:Kvapil, Petr论文数: 0 引用数: 0 h-index: 0机构: Inst Appl Biotechnol AS, Sluzeb 4, Prague 10800, Czech Republic Charles Univ Prague, Fac Sci, Albertov 6, Prague 12800, Czech RepublicPaces, Jan论文数: 0 引用数: 0 h-index: 0机构: Czech Acad Sci, Lab Genom & Bioinformat, Inst Mol Genet, Videnska 1083, Prague 14220, Czech Republic Charles Univ Prague, Fac Sci, Albertov 6, Prague 12800, Czech RepublicKozmik, Zbynek论文数: 0 引用数: 0 h-index: 0机构: Czech Acad Sci, Lab Transcript Regulat, Inst Mol Genet, Videnska 1083, Prague 14220, Czech Republic Charles Univ Prague, Fac Sci, Albertov 6, Prague 12800, Czech Republic
- [32] Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analysesBMC Genomics, 25Katerina Kvapilova论文数: 0 引用数: 0 h-index: 0机构: Charles University,Faculty of SciencePavol Misenko论文数: 0 引用数: 0 h-index: 0机构: Charles University,Faculty of ScienceJan Radvanszky论文数: 0 引用数: 0 h-index: 0机构: Charles University,Faculty of ScienceOndrej Brzon论文数: 0 引用数: 0 h-index: 0机构: Charles University,Faculty of ScienceJaroslav Budis论文数: 0 引用数: 0 h-index: 0机构: Charles University,Faculty of ScienceJuraj Gazdarica论文数: 0 引用数: 0 h-index: 0机构: Charles University,Faculty of ScienceOndrej Pos论文数: 0 引用数: 0 h-index: 0机构: Charles University,Faculty of ScienceMarie Korabecna论文数: 0 引用数: 0 h-index: 0机构: Charles University,Faculty of ScienceMartin Kasny论文数: 0 引用数: 0 h-index: 0机构: Charles University,Faculty of ScienceTomas Szemes论文数: 0 引用数: 0 h-index: 0机构: Charles University,Faculty of SciencePetr Kvapil论文数: 0 引用数: 0 h-index: 0机构: Charles University,Faculty of ScienceJan Paces论文数: 0 引用数: 0 h-index: 0机构: Charles University,Faculty of ScienceZbynek Kozmik论文数: 0 引用数: 0 h-index: 0机构: Charles University,Faculty of Science
- [33] Diagnosis of Williams Syndrome by Whole Exome Sequencing (WES)EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 202 - 202Tilemis, Faidon-Nikolaos论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, St Sophias Childrens Hosp, Lab Med Genet, Athens, Greece Natl & Kapodistrian Univ Athens, Res Univ Inst Study & Prevent Genet & Malignant D, St Sophias Childrens Hosp, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, St Sophias Childrens Hosp, Lab Med Genet, Athens, GreeceVeltra, Danai论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, St Sophias Childrens Hosp, Lab Med Genet, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, St Sophias Childrens Hosp, Lab Med Genet, Athens, GreeceMarinakis, Nikolaos论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, St Sophias Childrens Hosp, Lab Med Genet, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, St Sophias Childrens Hosp, Lab Med Genet, Athens, GreeceSvingou, Maria论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, St Sophias Childrens Hosp, Lab Med Genet, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, St Sophias Childrens Hosp, Lab Med Genet, Athens, GreeceKosma, Konstantina论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, St Sophias Childrens Hosp, Lab Med Genet, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, St Sophias Childrens Hosp, Lab Med Genet, Athens, GreeceTraeger-Synodinos, Jan论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, St Sophias Childrens Hosp, Lab Med Genet, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, St Sophias Childrens Hosp, Lab Med Genet, Athens, GreeceSofocleous, Christalena论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, St Sophias Childrens Hosp, Lab Med Genet, Athens, Greece Natl & Kapodistrian Univ Athens, Res Univ Inst Study & Prevent Genet & Malignant D, St Sophias Childrens Hosp, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, St Sophias Childrens Hosp, Lab Med Genet, Athens, Greece
- [34] Extra diagnostic yield gained by CNV detection in WES, clinical exome sequencing and targeted NGS panelsEUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 639 - 640Konovalov, F. A.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaKanivets, I. V.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaTolmacheva, E. R.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaKhmelkova, D. N.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaAmpleeva, M. A.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaSurkova, E. I.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaShumarina, A. O.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaAntonets, A. V.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaPyankov, D. V.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaKorostelev, S. A.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, Russia
- [35] The Use of an Artificial Pseudo-Heterozygous Mitochondria! Genome as an Internal Control for WES and WGS Diagnostic TestsJOURNAL OF MOLECULAR DIAGNOSTICS, 2014, 16 (06): : 709 - 709Andrae, J. L. Wendt论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Milwaukee, WI 53226 USA Med Coll Wisconsin, Milwaukee, WI 53226 USATschannen, M. R.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Milwaukee, WI 53226 USA Med Coll Wisconsin, Milwaukee, WI 53226 USAHelbing, D. S.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Milwaukee, WI 53226 USA Med Coll Wisconsin, Milwaukee, WI 53226 USABuzzell, A. A.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Milwaukee, WI 53226 USA Med Coll Wisconsin, Milwaukee, WI 53226 USADimmock, D. P.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Milwaukee, WI 53226 USA Med Coll Wisconsin, Milwaukee, WI 53226 USAJacob, H. J.论文数: 0 引用数: 0 h-index: 0机构: Med Coll Wisconsin, Milwaukee, WI 53226 USA Med Coll Wisconsin, Milwaukee, WI 53226 USA
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- [37] Detection Of Genetic Epilepsies Causes In Wes, Clinical Exome Sequencing And Targeted NGS Panels On Russian PopulationEPILEPSIA, 2018, 59 : S213 - S213Sharkov, A.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Res & Clin Inst Pediat Pirogov RNRMU, Dept Psychoneurol & Epileptol, Moscow, Russia Genomed Ltd, Moscow, RussiaKonovalov, F.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaKanivets, I.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaTolmacheva, E.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaKhmelkova, D.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaAmpleeva, M.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaKomarkov, I.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaSurkova, E.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaShumarina, A.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaAntonets, A.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaGorgisheli, K.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaPyankov, D.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, RussiaKorostelev, S.论文数: 0 引用数: 0 h-index: 0机构: Genomed Ltd, Moscow, Russia Genomed Ltd, Moscow, Russia
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