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- [31] Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm GenesHUMAN MUTATION, 2015, 36 (08) : 808 - 814Proost, Dorien论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, Belgium Univ Antwerp Hosp, B-2650 Antwerp, Belgium Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, Belgium论文数: 引用数: h-index:机构:Meester, Josephina A. N.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, Belgium Univ Antwerp Hosp, B-2650 Antwerp, Belgium Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, BelgiumSalemink, Simone论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Genet, Nijmegen, Netherlands Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, BelgiumKempers, Marlies论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen, Med Ctr, Dept Genet, Nijmegen, Netherlands Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, BelgiumIngram, Christie论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Dept Med, Nashville, TN USA Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, BelgiumPeeters, Nils论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, Belgium Univ Antwerp Hosp, B-2650 Antwerp, Belgium Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, BelgiumSaenen, Johan论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp Hosp, B-2650 Antwerp, Belgium Univ Antwerp, Fac Med & Hlth Sci, Dept Cardiol, B-2650 Antwerp, Belgium Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, Belgium论文数: 引用数: h-index:机构:Lacro, Ronald V.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Boston, MA USA Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, BelgiumRoden, Dan论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Dept Med, Nashville, TN USA Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, Belgium论文数: 引用数: h-index:机构:Dietz, Harry C.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ Hosp, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, Belgium论文数: 引用数: h-index:机构:Loeys, Bart L.论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, Belgium Univ Antwerp Hosp, B-2650 Antwerp, Belgium Radboud Univ Nijmegen, Med Ctr, Dept Genet, Nijmegen, Netherlands Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, BelgiumVan Laer, Lut论文数: 0 引用数: 0 h-index: 0机构: Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, Belgium Univ Antwerp Hosp, B-2650 Antwerp, Belgium Univ Antwerp, Fac Med & Hlth Sci, Dept Med Genet, B-2650 Antwerp, Belgium
- [32] Targeted next-generation sequencing identified a novel ANK1 mutation associated with hereditary spherocytosis in a Chinese familyHEMATOLOGY, 2019, 24 (01) : 583 - 587Sun, Qing论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R ChinaXie, Yao论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R ChinaWu, Penghui论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R ChinaLi, Shuo论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R ChinaHua, Ying论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R ChinaLu, Xintian论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R ChinaZhao, Weihong论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China Peking Univ, Hosp 1, Dept Pediat, Beijing, Peoples R China
- [33] SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing dataBMC Bioinformatics, 18Yong Chen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Key Lab of Intelligent Information Processing,School of Computer Science and TechnologyLi Zhao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Key Lab of Intelligent Information Processing,School of Computer Science and TechnologyYi Wang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Key Lab of Intelligent Information Processing,School of Computer Science and TechnologyMing Cao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Key Lab of Intelligent Information Processing,School of Computer Science and TechnologyViolet Gelowani论文数: 0 引用数: 0 h-index: 0机构: Shanghai Key Lab of Intelligent Information Processing,School of Computer Science and TechnologyMingchu Xu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Key Lab of Intelligent Information Processing,School of Computer Science and TechnologySmriti A. Agrawal论文数: 0 引用数: 0 h-index: 0机构: Shanghai Key Lab of Intelligent Information Processing,School of Computer Science and TechnologyYumei Li论文数: 0 引用数: 0 h-index: 0机构: Shanghai Key Lab of Intelligent Information Processing,School of Computer Science and TechnologyStephen P. Daiger论文数: 0 引用数: 0 h-index: 0机构: Shanghai Key Lab of Intelligent Information Processing,School of Computer Science and TechnologyRichard Gibbs论文数: 0 引用数: 0 h-index: 0机构: Shanghai Key Lab of Intelligent Information Processing,School of Computer Science and TechnologyFei Wang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Key Lab of Intelligent Information Processing,School of Computer Science and TechnologyRui Chen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Key Lab of Intelligent Information Processing,School of Computer Science and Technology
- [34] Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencingSCIENTIFIC REPORTS, 2025, 15 (01):Raffle, Jade论文数: 0 引用数: 0 h-index: 0机构: Royal Vet Coll, Clin Sci & Serv, London, England Royal Vet Coll, Clin Sci & Serv, London, EnglandMatos, Jose Novo论文数: 0 引用数: 0 h-index: 0机构: Royal Vet Coll, Clin Sci & Serv, London, England Royal Vet Coll, Clin Sci & Serv, London, EnglandWallace, Marsha论文数: 0 引用数: 0 h-index: 0机构: Royal Vet Coll, Clin Sci & Serv, London, England Royal Vet Coll, Clin Sci & Serv, London, EnglandWilkie, Lois论文数: 0 引用数: 0 h-index: 0机构: Royal Vet Coll, Clin Sci & Serv, London, England Royal Vet Coll, Clin Sci & Serv, London, EnglandPiercy, Richard J.论文数: 0 引用数: 0 h-index: 0机构: Royal Vet Coll, Clin Sci & Serv, London, England Royal Vet Coll, Clin Sci & Serv, London, EnglandElliott, Perry论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Cardiovasc Sci, London, England Royal Vet Coll, Clin Sci & Serv, London, EnglandConnolly, David J.论文数: 0 引用数: 0 h-index: 0机构: Royal Vet Coll, Clin Sci & Serv, London, England Royal Vet Coll, Clin Sci & Serv, London, EnglandFuentes, Virginia Luis论文数: 0 引用数: 0 h-index: 0机构: Royal Vet Coll, Clin Sci & Serv, London, England Royal Vet Coll, Clin Sci & Serv, London, EnglandPsifidi, Androniki论文数: 0 引用数: 0 h-index: 0机构: Royal Vet Coll, Clin Sci & Serv, London, England Royal Vet Coll, Clin Sci & Serv, London, England
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- [36] Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencingScientific Reports, 15 (1)Jade Raffle论文数: 0 引用数: 0 h-index: 0机构: Royal Veterinary College,Clinical Science and Services Royal Veterinary College,Clinical Science and ServicesJose Novo Matos论文数: 0 引用数: 0 h-index: 0机构: Royal Veterinary College,Clinical Science and Services Royal Veterinary College,Clinical Science and ServicesMarsha Wallace论文数: 0 引用数: 0 h-index: 0机构: Royal Veterinary College,Clinical Science and Services Royal Veterinary College,Clinical Science and ServicesLois Wilkie论文数: 0 引用数: 0 h-index: 0机构: Royal Veterinary College,Clinical Science and Services Royal Veterinary College,Clinical Science and ServicesRichard J. Piercy论文数: 0 引用数: 0 h-index: 0机构: Royal Veterinary College,Clinical Science and Services Royal Veterinary College,Clinical Science and ServicesPerry Elliott论文数: 0 引用数: 0 h-index: 0机构: University College London,Institute of Cardiovascular Science Royal Veterinary College,Clinical Science and ServicesDavid J. Connolly论文数: 0 引用数: 0 h-index: 0机构: Royal Veterinary College,Clinical Science and Services Royal Veterinary College,Clinical Science and ServicesVirginia Luis Fuentes论文数: 0 引用数: 0 h-index: 0机构: Royal Veterinary College,Clinical Science and Services Royal Veterinary College,Clinical Science and ServicesAndroniki Psifidi论文数: 0 引用数: 0 h-index: 0机构: Royal Veterinary College,Clinical Science and Services Royal Veterinary College,Clinical Science and Services
- [37] Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemiaATHEROSCLEROSIS, 2016, 250 : 52 - 56Rimbert, Antoine论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, France CNRS, UMR 6291, F-44000 Nantes, France Univ Nantes, F-44000 Nantes, France INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, FrancePichelin, Matthieu论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, France CNRS, UMR 6291, F-44000 Nantes, France Univ Nantes, F-44000 Nantes, France CHU Nantes, Inst Thorax, F-44000 Nantes, France CHU Nantes, Inst Thorax, CIC Thorax, F-44000 Nantes, France INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, FranceLecointe, Simon论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, France CNRS, UMR 6291, F-44000 Nantes, France Univ Nantes, F-44000 Nantes, France CHU Nantes, Inst Thorax, F-44000 Nantes, France INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, FranceMarrec, Marie论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, Inst Thorax, F-44000 Nantes, France CHU Nantes, Inst Thorax, CIC Thorax, F-44000 Nantes, France INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, FranceLe Scouarnec, Solena论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, France CNRS, UMR 6291, F-44000 Nantes, France Univ Nantes, F-44000 Nantes, France INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, FranceBarrak, Elias论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, France CNRS, UMR 6291, F-44000 Nantes, France Univ Nantes, F-44000 Nantes, France CHU Nantes, Inst Thorax, F-44000 Nantes, France INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, FranceCroyal, Mikael论文数: 0 引用数: 0 h-index: 0机构: INRA, Ctr Rech Nutr Humaine Ouest, UMR1280, F-44093 Nantes, France INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, France论文数: 引用数: h-index:机构:Le Marec, Herve论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, France CNRS, UMR 6291, F-44000 Nantes, France Univ Nantes, F-44000 Nantes, France CHU Nantes, Inst Thorax, F-44000 Nantes, France INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, France论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Magre, Jocelyne论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, France CNRS, UMR 6291, F-44000 Nantes, France Univ Nantes, F-44000 Nantes, France INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, FranceCariou, Bertrand论文数: 0 引用数: 0 h-index: 0机构: INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, France CNRS, UMR 6291, F-44000 Nantes, France Univ Nantes, F-44000 Nantes, France CHU Nantes, Inst Thorax, F-44000 Nantes, France CHU Nantes, Inst Thorax, CIC Thorax, F-44000 Nantes, France INSERM, UMR1087, Inst Thorax, F-UMR1087 Nantes, France
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