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Journal Abstract Search

755 related items for PubMed ID: 25611102

  • 1. Clinical validation of targeted next-generation sequencing for inherited disorders.
    Yohe S, Hauge A, Bunjer K, Kemmer T, Bower M, Schomaker M, Onsongo G, Wilson J, Erdmann J, Zhou Y, Deshpande A, Spears MD, Beckman K, Silverstein KA, Thyagarajan B.
    Arch Pathol Lab Med; 2015 Feb; 139(2):204-10. PubMed ID: 25611102
    [Abstract] [Full Text] [Related]

  • 2. Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss.
    Sivakumaran TA, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH, Zhang K.
    Otolaryngol Head Neck Surg; 2013 Jun; 148(6):1007-16. PubMed ID: 23525850
    [Abstract] [Full Text] [Related]

  • 3. Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.
    Santani A, Murrell J, Funke B, Yu Z, Hegde M, Mao R, Ferreira-Gonzalez A, Voelkerding KV, Weck KE.
    Arch Pathol Lab Med; 2017 Jun; 141(6):787-797. PubMed ID: 28322587
    [Abstract] [Full Text] [Related]

  • 4. Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels.
    Kerkhof J, Schenkel LC, Reilly J, McRobbie S, Aref-Eshghi E, Stuart A, Rupar CA, Adams P, Hegele RA, Lin H, Rodenhiser D, Knoll J, Ainsworth PJ, Sadikovic B.
    J Mol Diagn; 2017 Nov; 19(6):905-920. PubMed ID: 28818680
    [Abstract] [Full Text] [Related]

  • 5. 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 Nov; 12(2):e0170843. PubMed ID: 28152038
    [Abstract] [Full Text] [Related]

  • 6. Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.
    de Koning TJ, Jongbloed JD, Sikkema-Raddatz B, Sinke RJ.
    Expert Rev Mol Diagn; 2015 Jan; 15(1):61-70. PubMed ID: 25367078
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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 14; 9():33. PubMed ID: 26666243
    [Abstract] [Full Text] [Related]

  • 9. 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 14; 7(6):e684. PubMed ID: 30968598
    [Abstract] [Full Text] [Related]

  • 10. Diagnostic validation of a familial hypercholesterolaemia cohort provides a model for using targeted next generation DNA sequencing in the clinical setting.
    Hinchcliffe M, Le H, Fimmel A, Molloy L, Freeman L, Sullivan D, Trent RJ.
    Pathology; 2014 Jan 14; 46(1):60-8. PubMed ID: 24300713
    [Abstract] [Full Text] [Related]

  • 11. Development and analytical validation of a 25-gene next generation sequencing panel that includes the BRCA1 and BRCA2 genes to assess hereditary cancer risk.
    Judkins T, Leclair B, Bowles K, Gutin N, Trost J, McCulloch J, Bhatnagar S, Murray A, Craft J, Wardell B, Bastian M, Mitchell J, Chen J, Tran T, Williams D, Potter J, Jammulapati S, Perry M, Morris B, Roa B, Timms K.
    BMC Cancer; 2015 Apr 02; 15():215. PubMed ID: 25886519
    [Abstract] [Full Text] [Related]

  • 12. Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
    Nijman IJ, van Montfrans JM, Hoogstraat M, Boes ML, van de Corput L, Renner ED, van Zon P, van Lieshout S, Elferink MG, van der Burg M, Vermont CL, van der Zwaag B, Janson E, Cuppen E, Ploos van Amstel JK, van Gijn ME.
    J Allergy Clin Immunol; 2014 Feb 02; 133(2):529-34. PubMed ID: 24139496
    [Abstract] [Full Text] [Related]

  • 13. Validation of a next-generation-sequencing cancer panel for use in the clinical laboratory.
    Simen BB, Yin L, Goswami CP, Davis KO, Bajaj R, Gong JZ, Peiper SC, Johnson ES, Wang ZX.
    Arch Pathol Lab Med; 2015 Apr 02; 139(4):508-17. PubMed ID: 25356985
    [Abstract] [Full Text] [Related]

  • 14. Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders.
    Brion M, Blanco-Verea A, Sobrino B, Santori M, Gil R, Ramos-Luis E, Martinez M, Amigo J, Carracedo A.
    Electrophoresis; 2014 Nov 02; 35(21-22):3111-6. PubMed ID: 24981977
    [Abstract] [Full Text] [Related]

  • 15. Review of Clinical Next-Generation Sequencing.
    Yohe S, Thyagarajan B.
    Arch Pathol Lab Med; 2017 Nov 02; 141(11):1544-1557. PubMed ID: 28782984
    [Abstract] [Full Text] [Related]

  • 16. Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.
    Bastida JM, Del Rey M, Lozano ML, Sarasquete ME, Benito R, Fontecha ME, Fisac R, García-Frade LJ, Aguilar C, Martínez MP, Pardal E, Aguilera C, Pérez B, Ramos R, Cardesa MR, Martin-Antorán JM, Silvestre LA, Cebeira MJ, Bermejo N, Riesco S, Mendoza MC, García-Sanz R, González-Díaz M, Hernández-Rivas JM, González-Porras JR.
    Haemophilia; 2016 Jul 02; 22(4):590-7. PubMed ID: 26879396
    [Abstract] [Full Text] [Related]

  • 17. High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.
    Halbritter J, Diaz K, Chaki M, Porath JD, Tarrier B, Fu C, Innis JL, Allen SJ, Lyons RH, Stefanidis CJ, Omran H, Soliman NA, Otto EA.
    J Med Genet; 2012 Dec 02; 49(12):756-67. PubMed ID: 23188109
    [Abstract] [Full Text] [Related]

  • 18. Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.
    Qin L, Wang J, Tian X, Yu H, Truong C, Mitchell JJ, Wierenga KJ, Craigen WJ, Zhang VW, Wong LC.
    J Mol Diagn; 2016 May 02; 18(3):446-453. PubMed ID: 26944031
    [Abstract] [Full Text] [Related]

  • 19. 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 May 02; 12():666273. PubMed ID: 34177904
    [Abstract] [Full Text] [Related]

  • 20. Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.
    Sikkema-Raddatz B, Johansson LF, de Boer EN, Almomani R, Boven LG, van den Berg MP, van Spaendonck-Zwarts KY, van Tintelen JP, Sijmons RH, Jongbloed JD, Sinke RJ.
    Hum Mutat; 2013 Jul 02; 34(7):1035-42. PubMed ID: 23568810
    [Abstract] [Full Text] [Related]

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