BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

266 related articles for article (PubMed ID: 22494076)

  • 1. Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum.
    Vasta V; Merritt JL; Saneto RP; Hahn SH
    Pediatr Int; 2012 Oct; 54(5):585-601. PubMed ID: 22494076
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders.
    Dames S; Chou LS; Xiao Y; Wayman T; Stocks J; Singleton M; Eilbeck K; Mao R
    J Mol Diagn; 2013 Jul; 15(4):526-34. PubMed ID: 23665194
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Comprehensive Mitochondrial Genome Analysis by Massively Parallel Sequencing.
    Palculict ME; Zhang VW; Wong LJ; Wang J
    Methods Mol Biol; 2016; 1351():3-17. PubMed ID: 26530670
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole exome sequencing of suspected mitochondrial patients in clinical practice.
    Wortmann SB; Koolen DA; Smeitink JA; van den Heuvel L; Rodenburg RJ
    J Inherit Metab Dis; 2015 May; 38(3):437-43. PubMed ID: 25735936
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Next generation molecular diagnosis of mitochondrial disorders.
    Wong LJ
    Mitochondrion; 2013 Jul; 13(4):379-87. PubMed ID: 23473862
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
    Calvo SE; Compton AG; Hershman SG; Lim SC; Lieber DS; Tucker EJ; Laskowski A; Garone C; Liu S; Jaffe DB; Christodoulou J; Fletcher JM; Bruno DL; Goldblatt J; Dimauro S; Thorburn DR; Mootha VK
    Sci Transl Med; 2012 Jan; 4(118):118ra10. PubMed ID: 22277967
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Current molecular diagnostic algorithm for mitochondrial disorders.
    Wong LJ; Scaglia F; Graham BH; Craigen WJ
    Mol Genet Metab; 2010 Jun; 100(2):111-7. PubMed ID: 20359921
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.
    Tang S; Wang J; Zhang VW; Li FY; Landsverk M; Cui H; Truong CK; Wang G; Chen LC; Graham B; Scaglia F; Schmitt ES; Craigen WJ; Wong LJ
    Hum Mutat; 2013 Jun; 34(6):882-93. PubMed ID: 23463613
    [TBL] [Abstract][Full Text] [Related]  

  • 9. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
    Pronicka E; Piekutowska-Abramczuk D; Ciara E; Trubicka J; Rokicki D; Karkucińska-Więckowska A; Pajdowska M; Jurkiewicz E; Halat P; Kosińska J; Pollak A; Rydzanicz M; Stawinski P; Pronicki M; Krajewska-Walasek M; Płoski R
    J Transl Med; 2016 Jun; 14(1):174. PubMed ID: 27290639
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
    Wang J; Zhang VW; Feng Y; Tian X; Li FY; Truong C; Wang G; Chiang PW; Lewis RA; Wong LJ
    Invest Ophthalmol Vis Sci; 2014 Aug; 55(10):6213-23. PubMed ID: 25097241
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disorders.
    Wang J; Zhan H; Li FY; Pursley AN; Schmitt ES; Wong LJ
    Mol Genet Metab; 2012 Jun; 106(2):221-30. PubMed ID: 22494545
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
    Plutino M; Chaussenot A; Rouzier C; Ait-El-Mkadem S; Fragaki K; Paquis-Flucklinger V; Bannwarth S
    BMC Med Genet; 2018 Apr; 19(1):57. PubMed ID: 29625556
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mitochondrial DNA mutation analysis from exome sequencing-A more holistic approach in diagnostics of suspected mitochondrial disease.
    Wagner M; Berutti R; Lorenz-Depiereux B; Graf E; Eckstein G; Mayr JA; Meitinger T; Ahting U; Prokisch H; Strom TM; Wortmann SB
    J Inherit Metab Dis; 2019 Sep; 42(5):909-917. PubMed ID: 31059585
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Nuclear gene defects in mitochondrial disorders.
    Scaglia F
    Methods Mol Biol; 2012; 837():17-34. PubMed ID: 22215538
    [TBL] [Abstract][Full Text] [Related]  

  • 16. New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
    Legati A; Reyes A; Nasca A; Invernizzi F; Lamantea E; Tiranti V; Garavaglia B; Lamperti C; Ardissone A; Moroni I; Robinson A; Ghezzi D; Zeviani M
    Biochim Biophys Acta; 2016 Aug; 1857(8):1326-1335. PubMed ID: 26968897
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
    Taylor RW; Pyle A; Griffin H; Blakely EL; Duff J; He L; Smertenko T; Alston CL; Neeve VC; Best A; Yarham JW; Kirschner J; Schara U; Talim B; Topaloglu H; Baric I; Holinski-Feder E; Abicht A; Czermin B; Kleinle S; Morris AA; Vassallo G; Gorman GS; Ramesh V; Turnbull DM; Santibanez-Koref M; McFarland R; Horvath R; Chinnery PF
    JAMA; 2014 Jul; 312(1):68-77. PubMed ID: 25058219
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Panel-Based Nuclear and Mitochondrial Next-Generation Sequencing Outcomes of an Ethnically Diverse Pediatric Patient Cohort with Mitochondrial Disease.
    Schoonen M; Smuts I; Louw R; Elson JL; van Dyk E; Jonck LM; Rodenburg RJT; van der Westhuizen FH
    J Mol Diagn; 2019 May; 21(3):503-513. PubMed ID: 30872186
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
    Kose M; Isik E; Aykut A; Durmaz A; Kose E; Ersoy M; Diniz G; Adebali O; Ünalp A; Yilmaz Ü; Karaoğlu P; Edizer S; Tekin HG; Özdemir TR; Atik T; Onay H; Özkınay F
    J Pediatr Endocrinol Metab; 2021 Apr; 34(4):417-430. PubMed ID: 33629572
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Diagnostic challenges of mitochondrial disorders: complexities of two genomes.
    Graham BH
    Methods Mol Biol; 2012; 837():35-46. PubMed ID: 22215539
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.