These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

494 related articles for article (PubMed ID: 24123792)

  • 1. A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
    Neveling K; Feenstra I; Gilissen C; Hoefsloot LH; Kamsteeg EJ; Mensenkamp AR; Rodenburg RJ; Yntema HG; Spruijt L; Vermeer S; Rinne T; van Gassen KL; Bodmer D; Lugtenberg D; de Reuver R; Buijsman W; Derks RC; Wieskamp N; van den Heuvel B; Ligtenberg MJ; Kremer H; Koolen DA; van de Warrenburg BP; Cremers FP; Marcelis CL; Smeitink JA; Wortmann SB; van Zelst-Stams WA; Veltman JA; Brunner HG; Scheffer H; Nelen MR
    Hum Mutat; 2013 Dec; 34(12):1721-6. PubMed ID: 24123792
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.
    Shashi V; McConkie-Rosell A; Rosell B; Schoch K; Vellore K; McDonald M; Jiang YH; Xie P; Need A; Goldstein DB
    Genet Med; 2014 Feb; 16(2):176-82. PubMed ID: 23928913
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
    Lionel AC; Costain G; Monfared N; Walker S; Reuter MS; Hosseini SM; Thiruvahindrapuram B; Merico D; Jobling R; Nalpathamkalam T; Pellecchia G; Sung WWL; Wang Z; Bikangaga P; Boelman C; Carter MT; Cordeiro D; Cytrynbaum C; Dell SD; Dhir P; Dowling JJ; Heon E; Hewson S; Hiraki L; Inbar-Feigenberg M; Klatt R; Kronick J; Laxer RM; Licht C; MacDonald H; Mercimek-Andrews S; Mendoza-Londono R; Piscione T; Schneider R; Schulze A; Silverman E; Siriwardena K; Snead OC; Sondheimer N; Sutherland J; Vincent A; Wasserman JD; Weksberg R; Shuman C; Carew C; Szego MJ; Hayeems RZ; Basran R; Stavropoulos DJ; Ray PN; Bowdin S; Meyn MS; Cohn RD; Scherer SW; Marshall CR
    Genet Med; 2018 Apr; 20(4):435-443. PubMed ID: 28771251
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
    Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC
    Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Diagnostic clinical genome and exome sequencing.
    Biesecker LG; Green RC
    N Engl J Med; 2014 Jun; 370(25):2418-25. PubMed ID: 24941179
    [No Abstract]   [Full Text] [Related]  

  • 8. Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.
    Duraisamy AJ; Liu R; Sureshkumar S; Rose R; Jagannathan L; da Silva C; Coovadia A; Ramachander V; Chandrasekar S; Raja I; Sajnani M; Selvaraj SM; Narang B; Darvishi K; Bhayal AC; Katikala L; Guo F; Chen-Deutsch X; Balciuniene J; Ma Z; Nallamilli BRR; Bean L; Collins C; Hegde M
    J Mol Diagn; 2024 Jun; 26(6):510-519. PubMed ID: 38582400
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
    Marinakis NM; Svingou M; Veltra D; Kekou K; Sofocleous C; Tilemis FN; Kosma K; Tsoutsou E; Fryssira H; Traeger-Synodinos J
    Am J Med Genet A; 2021 Aug; 185(8):2561-2571. PubMed ID: 34008892
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.
    Bauer P; Kandaswamy KK; Weiss MER; Paknia O; Werber M; Bertoli-Avella AM; Yüksel Z; Bochinska M; Oprea GE; Kishore S; Weckesser V; Karges E; Rolfs A
    Genet Med; 2019 Jan; 21(1):53-61. PubMed ID: 30100613
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.
    McInerney-Leo AM; Duncan EL
    Front Endocrinol (Lausanne); 2020; 11():628946. PubMed ID: 33679611
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.
    Hegde M; Santani A; Mao R; Ferreira-Gonzalez A; Weck KE; Voelkerding KV
    Arch Pathol Lab Med; 2017 Jun; 141(6):798-805. PubMed ID: 28362156
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular findings among patients referred for clinical whole-exome sequencing.
    Yang Y; Muzny DM; Xia F; Niu Z; Person R; Ding Y; Ward P; Braxton A; Wang M; Buhay C; Veeraraghavan N; Hawes A; Chiang T; Leduc M; Beuten J; Zhang J; He W; Scull J; Willis A; Landsverk M; Craigen WJ; Bekheirnia MR; Stray-Pedersen A; Liu P; Wen S; Alcaraz W; Cui H; Walkiewicz M; Reid J; Bainbridge M; Patel A; Boerwinkle E; Beaudet AL; Lupski JR; Plon SE; Gibbs RA; Eng CM
    JAMA; 2014 Nov; 312(18):1870-9. PubMed ID: 25326635
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.
    Abicht A; Scharf F; Kleinle S; Schön U; Holinski-Feder E; Horvath R; Benet-Pagès A; Diebold I
    Mol Genet Genomic Med; 2018 Nov; 6(6):1188-1198. PubMed ID: 30406974
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Exome and whole-genome sequencing for gene discovery: the future is now!
    Majewski J; Rosenblatt DS
    Hum Mutat; 2012 Apr; 33(4):591-2. PubMed ID: 22411407
    [No Abstract]   [Full Text] [Related]  

  • 17. [Diagnostics in human genetics : Integration of phenotypic and genomic data].
    Köhler S; Robinson PN
    Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz; 2017 May; 60(5):542-549. PubMed ID: 28293716
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.
    Kernohan KD; Hartley T; Naumenko S; Armour CM; Graham GE; Nikkel SM; Lines M; Geraghty MT; Richer J; Mears W; Boycott KM; Dyment DA
    Am J Med Genet A; 2018 Jul; 176(7):1688-1691. PubMed ID: 30160830
    [No Abstract]   [Full Text] [Related]  

  • 19. New approaches to molecular diagnosis.
    Korf BR; Rehm HL
    JAMA; 2013 Apr; 309(14):1511-21. PubMed ID: 23571590
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.
    Tan TY; Lunke S; Chong B; Phelan D; Fanjul-Fernandez M; Marum JE; Kumar VS; Stark Z; Yeung A; Brown NJ; Stutterd C; Delatycki MB; Sadedin S; Martyn M; Goranitis I; Thorne N; Gaff CL; White SM
    Eur J Hum Genet; 2019 Dec; 27(12):1791-1799. PubMed ID: 31320747
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 25.