BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

1909 related articles for article (PubMed ID: 28152038)

  • 21. Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy.
    Mak TSH; Lee YK; Tang CS; Hai JSH; Ran X; Sham PC; Tse HF
    Sci Rep; 2018 Jul; 8(1):10846. PubMed ID: 30022097
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.
    Chen MJ; Wei SY; Yang WS; Wu TT; Li HY; Ho HN; Yang YS; Chen PL
    Hum Reprod; 2015 Jul; 30(7):1732-42. PubMed ID: 25924657
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
    Harris E; Topf A; Barresi R; Hudson J; Powell H; Tellez J; Hicks D; Porter A; Bertoli M; Evangelista T; Marini-Betollo C; Magnússon Ó; Lek M; MacArthur D; Bushby K; Lochmüller H; Straub V
    Orphanet J Rare Dis; 2017 Sep; 12(1):151. PubMed ID: 28877744
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Inconsistency and features of single nucleotide variants detected in whole exome sequencing versus transcriptome sequencing: A case study in lung cancer.
    O'Brien TD; Jia P; Xia J; Saxena U; Jin H; Vuong H; Kim P; Wang Q; Aryee MJ; Mino-Kenudson M; Engelman JA; Le LP; Iafrate AJ; Heist RS; Pao W; Zhao Z
    Methods; 2015 Jul; 83():118-27. PubMed ID: 25913717
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease.
    LaHaye S; Corsmeier D; Basu M; Bowman JL; Fitzgerald-Butt S; Zender G; Bosse K; McBride KL; White P; Garg V
    Circ Cardiovasc Genet; 2016 Aug; 9(4):320-9. PubMed ID: 27418595
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Free-access copy-number variant detection tools for targeted next-generation sequencing data.
    Roca I; González-Castro L; Fernández H; Couce ML; Fernández-Marmiesse A
    Mutat Res Rev Mutat Res; 2019; 779():114-125. PubMed ID: 31097148
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Archived neonatal dried blood spot samples can be used for accurate whole genome and exome-targeted next-generation sequencing.
    Hollegaard MV; Grauholm J; Nielsen R; Grove J; Mandrup S; Hougaard DM
    Mol Genet Metab; 2013; 110(1-2):65-72. PubMed ID: 23830478
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.
    Zeng Q; Fan Y; Wang L; Huang Z; Gu X; Yu Y
    J Pediatr Endocrinol Metab; 2017 Apr; 30(4):463-469. PubMed ID: 28306536
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.
    Lelieveld SH; Spielmann M; Mundlos S; Veltman JA; Gilissen C
    Hum Mutat; 2015 Aug; 36(8):815-22. PubMed ID: 25973577
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases.
    Ronzoni L; Marini I; Passignani G; Malvestiti F; Marchelli D; Bianco C; Pelusi S; Prati D; Valenti L
    Front Genet; 2023; 14():1137016. PubMed ID: 37388930
    [No Abstract]   [Full Text] [Related]  

  • 32. Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis.
    Mukda E; Trachoo O; Pasomsub E; Tiyasirichokchai R; Iemwimangsa N; Sosothikul D; Chantratita W; Pakakasama S
    Int J Hematol; 2017 Aug; 106(2):282-290. PubMed ID: 28353193
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Semiconductor Whole Exome Sequencing for the Identification of Genetic Variants in Colombian Patients Clinically Diagnosed with Long QT Syndrome.
    Burgos M; Arenas A; Cabrera R
    Mol Diagn Ther; 2016 Aug; 20(4):353-62. PubMed ID: 27251404
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.
    Platt CD; Zaman F; Bainter W; Stafstrom K; Almutairi A; Reigle M; Weeks S; Geha RS; Chou J;
    J Allergy Clin Immunol; 2021 Feb; 147(2):723-726. PubMed ID: 32888943
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
    Acke FR; Malfait F; Vanakker OM; Steyaert W; De Leeneer K; Mortier G; Dhooge I; De Paepe A; De Leenheer EM; Coucke PJ
    Mol Genet Metab; 2014 Nov; 113(3):230-5. PubMed ID: 25240749
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.
    Schenkel LC; Kerkhof J; Stuart A; Reilly J; Eng B; Woodside C; Levstik A; Howlett CJ; Rupar AC; Knoll JHM; Ainsworth P; Waye JS; Sadikovic B
    J Mol Diagn; 2016 Sep; 18(5):657-667. PubMed ID: 27376475
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders.
    Guzel F; Romano M; Keles E; Piskin D; Ozen S; Poyrazoglu H; Kasapcopur O; Demirkaya E
    Front Immunol; 2021; 12():666273. PubMed ID: 34177904
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
    Kalsner L; Twachtman-Bassett J; Tokarski K; Stanley C; Dumont-Mathieu T; Cotney J; Chamberlain S
    Mol Genet Genomic Med; 2018 Mar; 6(2):171-185. PubMed ID: 29271092
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 96.