BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 34852981)

  • 1. Cost-effectiveness of whole-exome sequencing in progressive neurological disorders of children.
    Aaltio J; Hyttinen V; Kortelainen M; Frederix GWJ; Lönnqvist T; Suomalainen A; Isohanni P
    Eur J Paediatr Neurol; 2022 Jan; 36():30-36. PubMed ID: 34852981
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
    Córdoba M; Rodriguez-Quiroga SA; Vega PA; Salinas V; Perez-Maturo J; Amartino H; Vásquez-Dusefante C; Medina N; González-Morón D; Kauffman MA
    PLoS One; 2018; 13(2):e0191228. PubMed ID: 29389947
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
    Tan TY; Dillon OJ; Stark Z; Schofield D; Alam K; Shrestha R; Chong B; Phelan D; Brett GR; Creed E; Jarmolowicz A; Yap P; Walsh M; Downie L; Amor DJ; Savarirayan R; McGillivray G; Yeung A; Peters H; Robertson SJ; Robinson AJ; Macciocca I; Sadedin S; Bell K; Oshlack A; Georgeson P; Thorne N; Gaff C; White SM
    JAMA Pediatr; 2017 Sep; 171(9):855-862. PubMed ID: 28759686
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Positioning whole exome sequencing in the diagnostic pathway for rare disease to optimise utility: a protocol for an observational cohort study and an economic evaluation.
    Hayeems RZ; Bernier F; Boycott KM; Hartley T; Michaels-Igbokwe C; Marshall DA
    BMJ Open; 2022 Oct; 12(10):e061468. PubMed ID: 36216418
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
    Monroe GR; Frederix GW; Savelberg SM; de Vries TI; Duran KJ; van der Smagt JJ; Terhal PA; van Hasselt PM; Kroes HY; Verhoeven-Duif NM; Nijman IJ; Carbo EC; van Gassen KL; Knoers NV; Hövels AM; van Haelst MM; Visser G; van Haaften G
    Genet Med; 2016 Sep; 18(9):949-56. PubMed ID: 26845106
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohort.
    Nazeha N; Koh AL; Kam S; Lim JY; Goh DLM; Jamuar SS; Graves N
    Am J Med Genet A; 2022 Dec; 188(12):3482-3491. PubMed ID: 36156406
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel.
    Tal-Ben Ishay R; Shil A; Solomon S; Sadigurschi N; Abu-Kaf H; Meiri G; Flusser H; Michaelovski A; Dinstein I; Golan H; Davidovitch N; Menashe I
    Genes (Basel); 2021 Dec; 13(1):. PubMed ID: 35052376
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
    Vissers LELM; van Nimwegen KJM; Schieving JH; Kamsteeg EJ; Kleefstra T; Yntema HG; Pfundt R; van der Wilt GJ; Krabbenborg L; Brunner HG; van der Burg S; Grutters J; Veltman JA; Willemsen MAAP
    Genet Med; 2017 Sep; 19(9):1055-1063. PubMed ID: 28333917
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
    van Slobbe M; van Haeringen A; Vissers LELM; Bijlsma EK; Rutten JW; Suerink M; Nibbeling EAR; Ruivenkamp CAL; Koene S
    Eur J Pediatr; 2024 Jan; 183(1):345-355. PubMed ID: 37889289
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.
    Stark Z; Schofield D; Alam K; Wilson W; Mupfeki N; Macciocca I; Shrestha R; White SM; Gaff C
    Genet Med; 2017 Aug; 19(8):867-874. PubMed ID: 28125081
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
    Ewans LJ; Schofield D; Shrestha R; Zhu Y; Gayevskiy V; Ying K; Walsh C; Lee E; Kirk EP; Colley A; Ellaway C; Turner A; Mowat D; Worgan L; Freckmann ML; Lipke M; Sachdev R; Miller D; Field M; Dinger ME; Buckley MF; Cowley MJ; Roscioli T
    Genet Med; 2018 Dec; 20(12):1564-1574. PubMed ID: 29595814
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
    Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK
    Mol Genet Genomic Med; 2018 Mar; 6(2):186-199. PubMed ID: 29314763
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.
    Nurchis MC; Radio FC; Salmasi L; Heidar Alizadeh A; Raspolini GM; Altamura G; Tartaglia M; Dallapiccola B; Pizzo E; Gianino MM; Damiani G
    JAMA Netw Open; 2024 Jan; 7(1):e2353514. PubMed ID: 38277144
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.
    Nolan D; Carlson M
    J Child Neurol; 2016 Jun; 31(7):887-94. PubMed ID: 26863999
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
    Jiao Q; Sun H; Zhang H; Wang R; Li S; Sun D; Yang XA; Jin Y
    Clin Genet; 2019 Aug; 96(2):140-150. PubMed ID: 30945278
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness.
    Stark Z; Schofield D; Martyn M; Rynehart L; Shrestha R; Alam K; Lunke S; Tan TY; Gaff CL; White SM
    Genet Med; 2019 Jan; 21(1):173-180. PubMed ID: 29765138
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.
    Mu W; Schiess N; Orthmann-Murphy JL; El-Hattab AW
    J Neurogenet; 2019 Mar; 33(1):21-26. PubMed ID: 30724636
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The Utility of Whole Exome Sequencing in Diagnosing Pediatric Neurological Disorders.
    Muthaffar OY
    Balkan J Med Genet; 2020 Nov; 23(2):17-24. PubMed ID: 33816068
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Temporal trends and yield of clinical diagnostic genetic testing in adult neurology.
    Guo MH; Bardakjian TM; Brzozowski MR; Scherer SS; Quinn C; Elman L; Orthmann-Murphy J; Tropea TF; Ellis CA; Gonzalez-Alegre P
    Am J Med Genet A; 2021 Oct; 185(10):2922-2928. PubMed ID: 34075706
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence.
    Nurchis MC; Riccardi MT; Radio FC; Chillemi G; Bertini ES; Tartaglia M; Cicchetti A; Dallapiccola B; Damiani G
    Health Policy; 2022 Apr; 126(4):337-345. PubMed ID: 35317923
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.