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- [1] EARLY LESSONS FROM WHOLE-GENOME SEQUENCING IN THE CLINICAL DIAGNOSIS OF RARE INHERITED ANAEMIASHAEMATOLOGICA, 2017, 102 : 583 - 583Roy, N.论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Trust, Mol Haematol Unit, Oxford, England Oxford Univ Hosp NHS Trust, BRC Mol Diagnost Ctr, Oxford, England Oxford Univ Hosp NHS Trust, Mol Haematol Unit, Oxford, EnglandCamps, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Comprehens Biomed Res Ctr, Oxford, England Oxford Univ Hosp NHS Trust, Mol Haematol Unit, Oxford, EnglandDreau, H.论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Trust, BRC Mol Diagnost Ctr, Oxford, England Oxford Univ Hosp NHS Trust, Mol Haematol Unit, Oxford, England论文数: 引用数: h-index:机构:Kvikstad, E.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Comprehens Biomed Res Ctr, Oxford, England Oxford Univ Hosp NHS Trust, Mol Haematol Unit, Oxford, EnglandPentony, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Comprehens Biomed Res Ctr, Oxford, England Oxford Univ Hosp NHS Trust, Mol Haematol Unit, Oxford, EnglandBabbs, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Oxford Univ Hosp NHS Trust, Mol Haematol Unit, Oxford, EnglandScott, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Oxford Univ Hosp NHS Trust, Mol Haematol Unit, Oxford, EnglandWray, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Weatherall Inst Mol Med, Mol Haematol Unit, Oxford, England Oxford Univ Hosp NHS Trust, Mol Haematol Unit, Oxford, EnglandSchuh, A.论文数: 0 引用数: 0 h-index: 0机构: Oxford Univ Hosp NHS Trust, BRC Mol Diagnost Ctr, Oxford, England Oxford Univ Hosp NHS Trust, Mol Haematol Unit, Oxford, EnglandTaylor, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Oxford, Wellcome Trust Ctr Human Genet, Comprehens Biomed Res Ctr, Oxford, England Oxford Univ Hosp NHS Trust, Mol Haematol Unit, Oxford, England
- [2] 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,
- [3] 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
- [4] 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
- [5] 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
- [6] 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
- [7] Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicinenpj Genomic Medicine, 1Dimitri J Stavropoulos论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineDaniele Merico论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineRebekah Jobling论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineSarah Bowdin论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineNasim Monfared论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineBhooma Thiruvahindrapuram论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineThomas Nalpathamkalam论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineGiovanna Pellecchia论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineRyan K C Yuen论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineMichael J Szego论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineRobin Z Hayeems论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineRandi Zlotnik Shaul论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineMichael Brudno论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineMarta Girdea论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineBrendan Frey论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineBabak Alipanahi论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineSohnee Ahmed论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineRiyana Babul-Hirji论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineRamses Badilla Porras论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineMelissa T Carter论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineLauren Chad论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineAyeshah Chaudhry论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineDavid Chitayat论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineSoghra Jougheh Doust论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineCheryl Cytrynbaum论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineLucie Dupuis论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineResham Ejaz论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineLeona Fishman论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineAndrea Guerin论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineBita Hashemi论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineMayada Helal论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineStacy Hewson论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineMichal Inbar-Feigenberg论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicinePeter Kannu论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineNatalya Karp论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineRaymond H Kim论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineJonathan Kronick论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineEriskay Liston论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineHeather MacDonald论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineSaadet Mercimek-Mahmutoglu论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineRoberto Mendoza-Londono论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineEnas Nasr论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineGraeme Nimmo论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineNicole Parkinson论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineNada Quercia论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineJulian Raiman论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineMaian Roifman论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineAndreas Schulze论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineAndrea Shugar论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory MedicineCheryl Shuman论文数: 0 引用数: 0 h-index: 0机构: Genome Diagnostics,Department of Paediatric Laboratory Medicine
- [8] Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicineNPJ GENOMIC MEDICINE, 2016, 1Stavropoulos, Dimitri J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, Canada Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaMerico, Daniele论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaJobling, Rebekah论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaBowdin, Sarah论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Ctr Genet Med, Toronto, ON, Canada Univ Toronto, Dept Paediat, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaMonfared, Nasim论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Ctr Genet Med, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaThiruvahindrapuram, Bhooma论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaNalpathamkalam, Thomas论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaPellecchia, Giovanna论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaYuen, Ryan K. C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaSzego, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada Univ Toronto, Joint Ctr Bioeth, Toronto, ON, Canada Univ Toronto, Dept Family & Community Med, Toronto, ON, Canada Univ Toronto, Clin Publ Hlth Div, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaHayeems, Robin Z.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Child Hlth Evaluat Sci, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaShaul, Randi Zlotnik论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Joint Ctr Bioeth, Toronto, ON, Canada Hosp Sick Children, Dept Bioeth, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaBrudno, Michael论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON, Canada Hosp Sick Children, Ctr Computat Med, Toronto, ON, Canada Univ Toronto, Dept Comp Sci, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaGirdea, Marta论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON, Canada Hosp Sick Children, Ctr Computat Med, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaFrey, Brendan论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Dept Comp Sci, Toronto, ON, Canada Univ Toronto, Dept Elect & Comp Engn, Toronto, ON, Canada Univ Toronto, Donnelly Ctr Cellular & Biomol Res, Toronto, ON, Canada Univ Toronto, Dept Mol Genet, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaAlipanahi, Babak论文数: 0 引用数: 0 h-index: 0机构: Univ Toronto, Dept Elect & Comp Engn, Toronto, ON, Canada Univ Toronto, Donnelly Ctr Cellular & Biomol Res, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaAhmed, Sohnee论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaBabul-Hirji, Riyana论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Dept Mol Genet, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaPorras, Ramses Badilla论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaCarter, Melissa T.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Dept Paediat, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, 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CanadaKarp, Natalya论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaKim, Raymond H.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaKronick, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaListon, Eriskay论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaMacDonald, Heather论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaMercimek-Mahmutoglu, Saadet论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Dept Paediat, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaMendoza-Londono, Roberto论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Dept Paediat, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaNasr, Enas论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaNimmo, Graeme论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaParkinson, Nicole论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Paediat Lab Med, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaQuercia, Nada论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Dept Mol Genet, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaRaiman, Julian论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Dept Paediat, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaRoifman, Maian论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaSchulze, Andreas论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Dept Paediat, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaShugar, Andrea论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Dept Mol Genet, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, CanadaShuman, Cheryl论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Univ Toronto, Dept Mol Genet, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, Canada
- [9] 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
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