BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 35791948)

  • 1. [Application of Next-Generation Sequencing in Rare Renal Diseases].
    Cai ZY; Zhao JR
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2022 Jun; 44(3):484-490. PubMed ID: 35791948
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.
    Shen T; Lee A; Shen C; Lin CJ
    Genet Res (Camb); 2015 Sep; 97():e15. PubMed ID: 26365496
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Toward Clinical Implementation of Next-Generation Sequencing-Based Genetic Testing in Rare Diseases: Where Are We?
    Liu Z; Zhu L; Roberts R; Tong W
    Trends Genet; 2019 Nov; 35(11):852-867. PubMed ID: 31623871
    [TBL] [Abstract][Full Text] [Related]  

  • 4. NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.
    Fernandez-Marmiesse A; Gouveia S; Couce ML
    Curr Med Chem; 2018 Jan; 25(3):404-432. PubMed ID: 28721829
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Towards efficiency in rare disease research: what is distinctive and important?
    Jia J; Shi T
    Sci China Life Sci; 2017 Jul; 60(7):686-691. PubMed ID: 28639105
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond.
    Oh J; Shin JI; Lee K; Lee C; Ko Y; Lee JS
    Clin Genet; 2021 Feb; 99(2):236-249. PubMed ID: 33095447
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Addressing challenges in the diagnosis and treatment of rare genetic diseases.
    Boycott KM; Ardigó D
    Nat Rev Drug Discov; 2018 Mar; 17(3):151-152. PubMed ID: 29242613
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
    Daoud H; Luco SM; Li R; Bareke E; Beaulieu C; Jarinova O; Carson N; Nikkel SM; Graham GE; Richer J; Armour C; Bulman DE; Chakraborty P; Geraghty M; Lines MA; Lacaze-Masmonteil T; Majewski J; Boycott KM; Dyment DA
    CMAJ; 2016 Aug; 188(11):E254-E260. PubMed ID: 27241786
    [TBL] [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; 7(6):e684. PubMed ID: 30968598
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
    Boycott KM; Hartley T; Biesecker LG; Gibbs RA; Innes AM; Riess O; Belmont J; Dunwoodie SL; Jojic N; Lassmann T; Mackay D; Temple IK; Visel A; Baynam G
    Cell; 2019 Mar; 177(1):32-37. PubMed ID: 30901545
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Rare inherited kidney diseases: challenges, opportunities, and perspectives.
    Devuyst O; Knoers NV; Remuzzi G; Schaefer F;
    Lancet; 2014 May; 383(9931):1844-59. PubMed ID: 24856029
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Next-generation sequencing applied to rare diseases genomics.
    Danielsson K; Mun LJ; Lordemann A; Mao J; Lin CH
    Expert Rev Mol Diagn; 2014 May; 14(4):469-87. PubMed ID: 24702023
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
    Mansilla MA; Sompallae RR; Nishimura CJ; Kwitek AE; Kimble MJ; Freese ME; Campbell CA; Smith RJ; Thomas CP
    Nephrol Dial Transplant; 2021 Jan; 36(2):295-305. PubMed ID: 31738409
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel.
    Mori T; Hosomichi K; Chiga M; Mandai S; Nakaoka H; Sohara E; Okado T; Rai T; Sasaki S; Inoue I; Uchida S
    Clin Exp Nephrol; 2017 Feb; 21(1):63-75. PubMed ID: 26920127
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Rare inherited disorders with renal involvement-approach to the patient.
    Joly D; Béroud C; Grünfeld JP
    Kidney Int; 2015 May; 87(5):901-8. PubMed ID: 25651365
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
    Yamamura T; Morisada N; Nozu K; Minamikawa S; Ishimori S; Toyoshima D; Ninchoji T; Yasui M; Taniguchi-Ikeda M; Morioka I; Nakanishi K; Nishio H; Iijima K
    Clin Exp Nephrol; 2017 Feb; 21(1):136-142. PubMed ID: 26968886
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing.
    Herbst SM; Schirmer S; Posovszky C; Jochum F; Rödl T; Schroeder JA; Barth TF; Hehr U; Melter M; Vermehren J
    Mol Cell Probes; 2015 Oct; 29(5):291-8. PubMed ID: 25771912
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases.
    Bacchelli C; Williams HJ
    Expert Rev Mol Diagn; 2016 Oct; 16(10):1073-1082. PubMed ID: 27560481
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases.
    Thompson MD
    Genes (Basel); 2024 May; 15(6):. PubMed ID: 38927651
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.