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- [1] Clinical utility of whole-genome sequencing in precision oncologySEMINARS IN CANCER BIOLOGY, 2022, 84 : 32 - 39Rosenquist, Richard论文数: 0 引用数: 0 h-index: 0机构: Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden Karolinska Univ Hosp, Dept Clin Genet, Solna, Sweden Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenCuppen, Edwin论文数: 0 引用数: 0 h-index: 0机构: Hartwig Med Fdn, Amsterdam, Netherlands Univ Med Ctr, Ctr Mol Med, Utrecht, Netherlands Univ Med Ctr, Oncode Inst, Utrecht, Netherlands Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenBuettner, Reinhard论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Cologne, Inst Pathol, Cologne, Germany Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenCaldas, Carlos论文数: 0 引用数: 0 h-index: 0机构: Univ Cambridge, Canc Res UK Cambridge Inst, Cambridge, England Univ Cambridge, Dept Oncol, Cambridge, England Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenDreau, Helene论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, NIHR Oxford Biomed Res Ctr, Oxford, England Univ Oxford, Dept Oncol, Oxford, England Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenElemento, Olivier论文数: 0 引用数: 0 h-index: 0机构: Weill Cornell Med, Inst Computat Biomed, New York, NY USA Weill Cornell Med, Englander Inst Precis Med, New York, NY USA Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenFrederix, Geert论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, Julius Ctr Hlth Sci & Primary Care, Utrecht, Netherlands Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenGrimmond, Sean论文数: 0 引用数: 0 h-index: 0机构: Univ Melbourne, Ctr Canc Res, Melbourne, Vic, Australia Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenHaferlach, Torsten论文数: 0 引用数: 0 h-index: 0机构: MLL Munich Leukemia Lab, Munich, Germany Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenJobanputra, Vaidehi论文数: 0 引用数: 0 h-index: 0机构: New York Genome Ctr, 101 Ave Amer, New York, NY USA Columbia Univ, Med Ctr, 650 W 168th St, New York, NY 10032 USA Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenMeggendorfer, Manja论文数: 0 引用数: 0 h-index: 0机构: MLL Munich Leukemia Lab, Munich, Germany Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenMullighan, Charles G.论文数: 0 引用数: 0 h-index: 0机构: St Jude Childrens Res Hosp, Dept Pathol, 332 N Lauderdale St, Memphis, TN 38105 USA Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenWordsworth, Sarah论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Nuffield Dept Populat Hlth, Oxford, England Univ Oxford, Oxford NIHR Biomed Res Ctr, Oxford, England Karolinska Inst, Dept Mol Med & Surg, Stockholm, SwedenSchuh, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, NIHR Oxford Biomed Res Ctr, Oxford, England Univ Oxford, Dept Oncol, Oxford, England Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden
- [2] Clinical utility of 'Shaken' biopsies for whole-genome sequencingJOURNAL OF CLINICAL PATHOLOGY, 2025,Nelan, Rachel论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Ctr Tumour Biol, London, England Queen Mary Univ London, Ctr Tumour Biol, London, EnglandMijuskovic, Martina论文数: 0 引用数: 0 h-index: 0机构: Illumina Cambridge, Great Abington, England Queen Mary Univ London, Ctr Tumour Biol, London, EnglandHughes, Martina论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Ctr Tumour Biol, London, England Queen Mary Univ London, Ctr Tumour Biol, London, EnglandBecq, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Illumina Cambridge, Great Abington, England Queen Mary Univ London, Ctr Tumour Biol, London, EnglandKingsbury, Zoya论文数: 0 引用数: 0 h-index: 0机构: Illumina Cambridge, Great Abington, England Queen Mary Univ London, Ctr Tumour Biol, London, EnglandTsogka, Eleni论文数: 0 引用数: 0 h-index: 0机构: Illumina Cambridge, Great Abington, England Queen Mary Univ London, Ctr Tumour Biol, London, EnglandHe, Miao论文数: 0 引用数: 0 h-index: 0机构: Illumina Cambridge, Great Abington, England Queen Mary Univ London, Ctr Tumour Biol, London, EnglandVucenovic, Dunja论文数: 0 引用数: 0 h-index: 0机构: Illumina Cambridge, Great Abington, England Queen Mary Univ London, Ctr Tumour Biol, London, EnglandCraig, Clare论文数: 0 引用数: 0 h-index: 0机构: Genomics England, London, England Queen Mary Univ London, Ctr Tumour Biol, London, EnglandElgar, Greg论文数: 0 引用数: 0 h-index: 0机构: Genomics England, London, England Queen Mary Univ London, Ctr Tumour Biol, London, EnglandLevey, Pauline论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ, London Blizard Inst, London, England Queen Mary Univ London, Ctr Tumour Biol, London, EnglandSuaris, Tamara论文数: 0 引用数: 0 h-index: 0机构: St Bartholomews Hosp, Dept Radiol, London, England Queen Mary Univ London, Ctr Tumour Biol, London, EnglandWalsh, Emma论文数: 0 引用数: 0 h-index: 0机构: Genomics England, London, England Queen Mary Univ London, Ctr Tumour Biol, London, EnglandRoss, Mark论文数: 0 引用数: 0 h-index: 0机构: Illumina Cambridge, Great Abington, England Queen Mary Univ London, Ctr Tumour Biol, London, EnglandJones, J. Louise论文数: 0 引用数: 0 h-index: 0机构: Queen Mary Univ London, Ctr Tumour Biol, London, England Queen Mary Univ London, Ctr Tumour Biol, London, England
- [3] Clinical Utility of Whole-Genome Sequencing in an ALS CohortNEUROLOGY, 2021, 96 (15)Chio, Adriano论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Neurosci, Turin, Italy Univ Torino, Dept Neurosci, Turin, ItalyCalvo, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Neurosci, Turin, Italy Univ Torino, Dept Neurosci, Turin, ItalyMoglia, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Turin, Italy Univ Torino, Dept Neurosci, Turin, ItalyBrunetti, Maura论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Neurosci, Turin, Italy Univ Torino, Dept Neurosci, Turin, ItalyChia, Ruth论文数: 0 引用数: 0 h-index: 0机构: NIH, NIA, New Delhi, India Univ Torino, Dept Neurosci, Turin, ItalyDing, Jinhui论文数: 0 引用数: 0 h-index: 0机构: NIH, NIA, New Delhi, India Univ Torino, Dept Neurosci, Turin, ItalyGibbs, J. Raphael论文数: 0 引用数: 0 h-index: 0机构: NIH, NIA, New Delhi, India Univ Torino, Dept Neurosci, Turin, ItalyDalgard, Clifton论文数: 0 引用数: 0 h-index: 0机构: Uniformed Serv Univ Hlth Sci, Hlth Sci, Bethesda, MD USA Univ Torino, Dept Neurosci, Turin, ItalyScholz, Sonja论文数: 0 引用数: 0 h-index: 0机构: NINDS, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA Univ Torino, Dept Neurosci, Turin, ItalyTraynor, Bryan论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Aging, New Delhi, India Univ Torino, Dept Neurosci, Turin, ItalyMazzini, Letizia论文数: 0 引用数: 0 h-index: 0机构: Univ Novara, Novara, Italy Univ Torino, Dept Neurosci, Turin, ItalyDe Marchi, Fabiola论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Neurosci, Turin, ItalyCorrado, Lucia论文数: 0 引用数: 0 h-index: 0机构: Univ Torino, Dept Neurosci, Turin, ItalyD'Alfonso, Sandra论文数: 0 引用数: 0 h-index: 0机构: Univ Piemonte Orientale, Vercelli, Italy Univ Torino, Dept Neurosci, Turin, ItalyGrassano, Maurizio论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Turin, Italy Univ Torino, Dept Neurosci, Turin, Italy
- [4] Evaluation of Pgx Data to Enhance the Clinical Utility of Whole-Genome Sequencing TestingJOURNAL OF MOLECULAR DIAGNOSTICS, 2024, 26 (06): : S1 - S1Mroz, Pawel论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Lab Med & Pathol, Minneapolis, MN USA Univ Minnesota, Lab Med & Pathol, Minneapolis, MN USAZhang, Lusi论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Coll Pharm, Expt & Clin Pharmacol, Minneapolis, MN USA Univ Minnesota, Lab Med & Pathol, Minneapolis, MN USABishop, Jeffrey论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Coll Pharm, Expt & Clin Pharmacol, Minneapolis, MN USA Univ Minnesota, Lab Med & Pathol, Minneapolis, MN USA
- [5] Evaluation of PGx Data to Enhance the Clinical Utility of Whole-Genome Sequencing TestingJOURNAL OF MOLECULAR DIAGNOSTICS, 2023, 25 (11): : S6 - S7Mroz, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Minneapolis, MN USA Univ Minnesota, Minneapolis, MN USABishop, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Coll Pharm Twin Cities, Minneapolis, MN USA Univ Minnesota, Minneapolis, MN USAZhang, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Coll Pharm Twin Cities, Minneapolis, MN USA Univ Minnesota, Minneapolis, MN USA
- [6] Clinical utility of whole-genome sequencing in a large ALS cohortJOURNAL OF THE NEUROLOGICAL SCIENCES, 2021, 429Grassano, Maurizio论文数: 0 引用数: 0 h-index: 0机构: Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, Italy NIA, NIH, Neuromuscular Dis Res Sect, Lab Neurogenet, Bethesda, MD 20892 USA Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, ItalyCalvo, Andrea论文数: 0 引用数: 0 h-index: 0机构: Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, Italy AOU Citta Salute & Sci Turin, Neurol 1, Turin, Italy Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, Italy论文数: 引用数: h-index:机构:Canosa, Antonio论文数: 0 引用数: 0 h-index: 0机构: Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, Italy AOU Citta Salute & Sci Turin, Neurol 1, Turin, Italy Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, ItalyVasta, Rosario论文数: 0 引用数: 0 h-index: 0机构: Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, Italy Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, Italy论文数: 引用数: h-index:机构:Brunetti, Maura论文数: 0 引用数: 0 h-index: 0机构: AOU Citta Salute & Sci Turin, Lab Genet, Dept Clin Pathol, Turin, Italy Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, ItalyChia, Ruth论文数: 0 引用数: 0 h-index: 0机构: NIA, NIH, Neuromuscular Dis Res Sect, Lab Neurogenet, Bethesda, MD 20892 USA Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, ItalyDing, Jinhui论文数: 0 引用数: 0 h-index: 0机构: NIA, NIH, Biocomputat Grp, Lab Neurogenet, Bethesda, MD 20892 USA Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, ItalyGibbs, Raphael论文数: 0 引用数: 0 h-index: 0机构: NIA, NIH, Biocomputat Grp, Lab Neurogenet, Bethesda, MD 20892 USA Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, ItalyDalgard, Clifton论文数: 0 引用数: 0 h-index: 0机构: Uniformed Serv Univ Hlth Sci, Dept Anat Physiol & Genet, Bethesda, MD 20814 USA Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, ItalyScholz, Sonja论文数: 0 引用数: 0 h-index: 0机构: NIA, Neurodegenerat Dis Res Unit, NIH, Bethesda, MD 20892 USA Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, ItalyMazzini, Letizia论文数: 0 引用数: 0 h-index: 0机构: Univ Piemonte Orientale, Maggiore Carita Hosp, Neurol, Novara, Italy Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, ItalyDe Marchi, Fabiola论文数: 0 引用数: 0 h-index: 0机构: Univ Piemonte Orientale, Maggiore Carita Hosp, Neurol, Novara, Italy Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, ItalyCorrado, Lucia论文数: 0 引用数: 0 h-index: 0机构: Amedeo Avogadro Univ Eastern Piedmont, Dept Hlth Sci, Interdisciplinary Res Ctr Autoimmune Dis, Novara, Italy Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, ItalyD'Alfonso, Sandra论文数: 0 引用数: 0 h-index: 0机构: Amedeo Avogadro Univ Eastern Piedmont, Dept Hlth Sci, Interdisciplinary Res Ctr Autoimmune Dis, Novara, Italy Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, ItalyTraynor, Bryan论文数: 0 引用数: 0 h-index: 0机构: NIA, NIH, Neuromuscular Dis Res Sect, Lab Neurogenet, Bethesda, MD 20892 USA Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, ItalyChio, Adriano论文数: 0 引用数: 0 h-index: 0机构: Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, Italy AOU Citta Salute & Sci Turin, Neurol 1, Turin, Italy Turin Univ, Als Ctr, Rita Levi Montalcini Dept Neurosci, Turin, Italy
- [7] Clinical whole-genome sequencingNature Reviews Genetics, 2015, 16 (7) : 377 - 377Orli G. Bahcall论文数: 0 引用数: 0 h-index: 0
- [8] Whole-genome sequencing of 988 myeloid neoplasmsCANCER SCIENCE, 2025, 116 : 1 - 1Okazaki, Koji论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, Japan Kyoto Univ, Dept Hematol, Kyoto, Japan Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, JapanTakamori, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Ctr, Div Canc Evolut, Res Inst, Tokyo, Japan Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, JapanFukushima, Hidehito论文数: 0 引用数: 0 h-index: 0机构: IMSUT, Div Hematopoiet Dis Control, Minato, Tokyo, Japan Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, JapanYokoyama, Kazuaki论文数: 0 引用数: 0 h-index: 0机构: IMSUT, Div Hematopoiet Dis Control, Minato, Tokyo, Japan Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, JapanMimura, Kaito论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Ctr, Div Canc Evolut, Res Inst, Tokyo, Japan Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, JapanMotomura, Masanori论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, Japan Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, JapanOkuda, Rurika论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, Japan Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, Japan论文数: 引用数: h-index:机构:Ogasawara, Tatsuki论文数: 0 引用数: 0 h-index: 0机构: Kyushu Univ, Dept Med & Bioregulatory Sci, Fukuoka, Japan Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, JapanNakagawa, Masahiro M.论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, Japan Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, JapanYoshida, Kenichi论文数: 0 引用数: 0 h-index: 0机构: Natl Canc Ctr, Div Canc Evolut, Res Inst, Tokyo, Japan Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, JapanOchi, Yotaro论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, Japan Kyoto Univ, Dept Hematol, Kyoto, Japan Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, JapanKatayama, Kotoe论文数: 0 引用数: 0 h-index: 0机构: IMSUT, Div Hlth Med Intelligence, Minto, Tokyo, Japan Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, JapanImoto, Seiya论文数: 0 引用数: 0 h-index: 0机构: IMSUT, Div Hlth Med Intelligence, Minto, Tokyo, Japan Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, Japan论文数: 引用数: h-index:机构:Nannya, Yasuhito论文数: 0 引用数: 0 h-index: 0机构: IMSUT, Div Hematopoiet Dis Control, Minato, Tokyo, Japan Kyoto Univ, Dept Pathol & Tumor Biol, Kyoto, Japan
- [9] Diagnostic utility of whole-genome sequencing for nephronophthisisnpj Genomic Medicine, 5Romain Larrue论文数: 0 引用数: 0 h-index: 0机构: Service de Toxicologie et Génopathies,Paul Chamley论文数: 0 引用数: 0 h-index: 0机构: Service de Toxicologie et Génopathies,Thomas Bardyn论文数: 0 引用数: 0 h-index: 0机构: Service de Toxicologie et Génopathies,Arnaud Lionet论文数: 0 引用数: 0 h-index: 0机构: Service de Toxicologie et Génopathies,Viviane Gnemmi论文数: 0 引用数: 0 h-index: 0机构: Service de Toxicologie et Génopathies,Christelle Cauffiez论文数: 0 引用数: 0 h-index: 0机构: Service de Toxicologie et Génopathies,François Glowacki论文数: 0 引用数: 0 h-index: 0机构: Service de Toxicologie et Génopathies,Nicolas Pottier论文数: 0 引用数: 0 h-index: 0机构: Service de Toxicologie et Génopathies,Franck Broly论文数: 0 引用数: 0 h-index: 0机构: Service de Toxicologie et Génopathies,
- [10] Diagnostic utility of whole-genome sequencing for nephronophthisisNPJ GENOMIC MEDICINE, 2020, 5 (01)Larrue, Romain论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Serv Toxicol & Genopathies, F-59000 Lille, France Univ Lille, CHU Lille, CNRS, Inserm,UMR9020,UMR S 1277, F-59000 Lille, France CHU Lille, Serv Toxicol & Genopathies, F-59000 Lille, FranceChamley, Paul论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Serv Nephrol, F-59000 Lille, France CHU Lille, Serv Toxicol & Genopathies, F-59000 Lille, FranceBardyn, Thomas论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Serv Toxicol & Genopathies, F-59000 Lille, France CHU Lille, Serv Toxicol & Genopathies, F-59000 Lille, FranceLionet, Arnaud论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Serv Nephrol, F-59000 Lille, France CHU Lille, Serv Toxicol & Genopathies, F-59000 Lille, France论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Pottier, Nicolas论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Serv Toxicol & Genopathies, F-59000 Lille, France Univ Lille, CHU Lille, CNRS, Inserm,UMR9020,UMR S 1277, F-59000 Lille, France CHU Lille, Serv Toxicol & Genopathies, F-59000 Lille, FranceBroly, Franck论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, Serv Toxicol & Genopathies, F-59000 Lille, France CHU Lille, Serv Toxicol & Genopathies, F-59000 Lille, France