BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

444 related articles for article (PubMed ID: 26938784)

  • 1. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
    Stark Z; Tan TY; Chong B; Brett GR; Yap P; Walsh M; Yeung A; Peters H; Mordaunt D; Cowie S; Amor DJ; Savarirayan R; McGillivray G; Downie L; Ekert PG; Theda C; James PA; Yaplito-Lee J; Ryan MM; Leventer RJ; Creed E; Macciocca I; Bell KM; Oshlack A; Sadedin S; Georgeson P; Anderson C; Thorne N; Melbourne Genomics Health Alliance ; Gaff C; White SM
    Genet Med; 2016 Nov; 18(11):1090-1096. PubMed ID: 26938784
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
    Dillon OJ; Lunke S; Stark Z; Yeung A; Thorne N; ; Gaff C; White SM; Tan TY
    Eur J Hum Genet; 2018 May; 26(5):644-651. PubMed ID: 29453417
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
    Hong S; Wang L; Zhao D; Zhang Y; Chen Y; Tan J; Liang L; Zhu T
    Mol Genet Genomic Med; 2019 Jun; 7(6):e684. PubMed ID: 30968598
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
    Meng L; Pammi M; Saronwala A; Magoulas P; Ghazi AR; Vetrini F; Zhang J; He W; Dharmadhikari AV; Qu C; Ward P; Braxton A; Narayanan S; Ge X; Tokita MJ; Santiago-Sim T; Dai H; Chiang T; Smith H; Azamian MS; Robak L; Bostwick BL; Schaaf CP; Potocki L; Scaglia F; Bacino CA; Hanchard NA; Wangler MF; Scott D; Brown C; Hu J; Belmont JW; Burrage LC; Graham BH; Sutton VR; Craigen WJ; Plon SE; Lupski JR; Beaudet AL; Gibbs RA; Muzny DM; Miller MJ; Wang X; Leduc MS; Xiao R; Liu P; Shaw C; Walkiewicz M; Bi W; Xia F; Lee B; Eng CM; Yang Y; Lalani SR
    JAMA Pediatr; 2017 Dec; 171(12):e173438. PubMed ID: 28973083
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular diagnostic experience of whole-exome sequencing in adult patients.
    Posey JE; Rosenfeld JA; James RA; Bainbridge M; Niu Z; Wang X; Dhar S; Wiszniewski W; Akdemir ZH; Gambin T; Xia F; Person RE; Walkiewicz M; Shaw CA; Sutton VR; Beaudet AL; Muzny D; Eng CM; Yang Y; Gibbs RA; Lupski JR; Boerwinkle E; Plon SE
    Genet Med; 2016 Jul; 18(7):678-85. PubMed ID: 26633545
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
    LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
    PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
    Sawyer SL; Hartley T; Dyment DA; Beaulieu CL; Schwartzentruber J; Smith A; Bedford HM; Bernard G; Bernier FP; Brais B; Bulman DE; Warman Chardon J; Chitayat D; Deladoëy J; Fernandez BA; Frosk P; Geraghty MT; Gerull B; Gibson W; Gow RM; Graham GE; Green JS; Heon E; Horvath G; Innes AM; Jabado N; Kim RH; Koenekoop RK; Khan A; Lehmann OJ; Mendoza-Londono R; Michaud JL; Nikkel SM; Penney LS; Polychronakos C; Richer J; Rouleau GA; Samuels ME; Siu VM; Suchowersky O; Tarnopolsky MA; Yoon G; Zahir FR; ; ; Majewski J; Boycott KM
    Clin Genet; 2016 Mar; 89(3):275-84. PubMed ID: 26283276
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical application of whole-exome sequencing across clinical indications.
    Retterer K; Juusola J; Cho MT; Vitazka P; Millan F; Gibellini F; Vertino-Bell A; Smaoui N; Neidich J; Monaghan KG; McKnight D; Bai R; Suchy S; Friedman B; Tahiliani J; Pineda-Alvarez D; Richard G; Brandt T; Haverfield E; Chung WK; Bale S
    Genet Med; 2016 Jul; 18(7):696-704. PubMed ID: 26633542
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.
    Al-Dewik N; Mohd H; Al-Mureikhi M; Ali R; Al-Mesaifri F; Mahmoud L; Shahbeck N; El-Akouri K; Almulla M; Al Sulaiman R; Musa S; Al-Marri AA; Richard G; Juusola J; Solomon BD; Alkuraya FS; Ben-Omran T
    Am J Med Genet A; 2019 Jun; 179(6):927-935. PubMed ID: 30919572
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
    ; Lunke S; Eggers S; Wilson M; Patel C; Barnett CP; Pinner J; Sandaradura SA; Buckley MF; Krzesinski EI; de Silva MG; Brett GR; Boggs K; Mowat D; Kirk EP; Adès LC; Akesson LS; Amor DJ; Ayres S; Baxendale A; Borrie S; Bray A; Brown NJ; Chan CY; Chong B; Cliffe C; Delatycki MB; Edwards M; Elakis G; Fahey MC; Fennell A; Fowles L; Gallacher L; Higgins M; Howell KB; Hunt L; Hunter MF; Jones KJ; King S; Kumble S; Lang S; Le Moing M; Ma A; Phelan D; Quinn MCJ; Richards A; Richmond CM; Riseley J; Rodgers J; Sachdev R; Sadedin S; Schlapbach LJ; Smith J; Springer A; Tan NB; Tan TY; Temple SL; Theda C; Vasudevan A; White SM; Yeung A; Zhu Y; Martyn M; Best S; Roscioli T; Christodoulou J; Stark Z
    JAMA; 2020 Jun; 323(24):2503-2511. PubMed ID: 32573669
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
    Śmigiel R; Biela M; Szmyd K; Błoch M; Szmida E; Skiba P; Walczak A; Gasperowicz P; Kosińska J; Rydzanicz M; Stawiński P; Biernacka A; Zielińska M; Gołębiowski W; Jalowska A; Ohia G; Głowska B; Walas W; Królak-Olejnik B; Krajewski P; Sykut-Cegielska J; Sąsiadek MM; Płoski R
    J Clin Med; 2020 Jul; 9(7):. PubMed ID: 32668698
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.
    Chen CB; Hsu JS; Chen PL; Wu JF; Li HY; Liou BY; Chang MH; Ni YH; Hwu WL; Chien YH; Chou YY; Yang YJ; Lee NC; Chen HL
    J Pediatr; 2023 Jul; 258():113408. PubMed ID: 37019333
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes.
    Kosaki R; Kubota M; Uehara T; Suzuki H; Takenouchi T; Kosaki K
    Am J Med Genet A; 2020 Jul; 182(7):1601-1607. PubMed ID: 32369273
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
    Engelbrecht C; Urban M; Schoeman M; Paarwater B; van Coller A; Abraham DR; Cornelissen H; Glashoff R; Esser M; Möller M; Kinnear C; Glanzmann B
    Front Immunol; 2021; 12():665621. PubMed ID: 34093558
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Proband-only medical exome sequencing as a cost-effective first-tier genetic diagnostic test for patients without prior molecular tests and clinical diagnosis in a developing country: the China experience.
    Hu X; Li N; Xu Y; Li G; Yu T; Yao RE; Fu L; Wang J; Yin L; Yin Y; Wang Y; Jin X; Wang X; Wang J; Shen Y
    Genet Med; 2018 Sep; 20(9):1045-1053. PubMed ID: 29095814
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
    Scholz T; Blohm ME; Kortüm F; Bierhals T; Lessel D; van der Ven AT; Lisfeld J; Herget T; Kloth K; Singer D; Perez A; Obi N; Johannsen J; Denecke J; Santer R; Kubisch C; Deindl P; Hempel M
    Neonatology; 2021; 118(4):454-461. PubMed ID: 34237744
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 23.