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 *

211 related articles for article (PubMed ID: 35388601)

  • 21. Oocyte mitochondrial deletions and heteroplasmy in a bovine model of ageing and ovarian stimulation.
    Hammond ER; Green MP; Shelling AN; Berg MC; Peek JC; Cree LM
    Mol Hum Reprod; 2016 Apr; 22(4):261-71. PubMed ID: 26792869
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Identification of extremely rare mitochondrial disorders by whole exome sequencing.
    Seo GH; Oh A; Kim EN; Lee Y; Park J; Kim T; Lim YM; Kim GH; Kim CJ; Yoo HW; Kang E; Lee BH
    J Hum Genet; 2019 Nov; 64(11):1117-1125. PubMed ID: 31451716
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
    Dinwiddie DL; Smith LD; Miller NA; Atherton AM; Farrow EG; Strenk ME; Soden SE; Saunders CJ; Kingsmore SF
    Genomics; 2013 Sep; 102(3):148-56. PubMed ID: 23631824
    [TBL] [Abstract][Full Text] [Related]  

  • 24. eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data.
    Goudenège D; Bris C; Hoffmann V; Desquiret-Dumas V; Jardel C; Rucheton B; Bannwarth S; Paquis-Flucklinger V; Lebre AS; Colin E; Amati-Bonneau P; Bonneau D; Reynier P; Lenaers G; Procaccio V
    Genet Med; 2019 Jun; 21(6):1407-1416. PubMed ID: 30393377
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mitochondria sequence mapping strategies and practicability of mitochondria variant detection from exome and RNA sequencing data.
    Zhang P; Samuels DC; Lehmann B; Stricker T; Pietenpol J; Shyr Y; Guo Y
    Brief Bioinform; 2016 Mar; 17(2):224-32. PubMed ID: 26249222
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratories.
    Wong LJ
    Neurotherapeutics; 2013 Apr; 10(2):262-72. PubMed ID: 23269496
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
    Macken WL; Falabella M; Pizzamiglio C; Woodward CE; Scotchman E; Chitty LS; Polke JM; Bugiardini E; Hanna MG; Vandrovcova J; Chandler N; Labrum R; Pitceathly RDS
    Expert Rev Mol Diagn; 2023; 23(9):797-814. PubMed ID: 37642407
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence.
    Paiva Coelho M; Martins E; Vilarinho L
    Eur J Pediatr; 2019 Jan; 178(1):21-32. PubMed ID: 30535772
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases.
    Rius R; Compton AG; Baker NL; Welch AE; Coman D; Kava MP; Minoche AE; Cowley MJ; Thorburn DR; Christodoulou J
    Genes (Basel); 2021 Apr; 12(4):. PubMed ID: 33924034
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution.
    Santibanez-Koref M; Griffin H; Turnbull DM; Chinnery PF; Herbert M; Hudson G
    Mitochondrion; 2019 May; 46():302-306. PubMed ID: 30098421
    [TBL] [Abstract][Full Text] [Related]  

  • 32. HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA.
    Lin Y; Wang J; Xu R; Xu Z; Wang Y; Pan S; Zhang Y; Tao Q; Zhao Y; Yan C; Cao Z; Ji K
    BMC Genomics; 2024 May; 25(1):538. PubMed ID: 38822239
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.
    Griffin HR; Pyle A; Blakely EL; Alston CL; Duff J; Hudson G; Horvath R; Wilson IJ; Santibanez-Koref M; Taylor RW; Chinnery PF
    Genet Med; 2014 Dec; 16(12):962-71. PubMed ID: 24901348
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders.
    Bris C; Goudenège D; Desquiret-Dumas V; Gueguen N; Bannwarth S; Gaignard P; Rucheton B; Trimouille A; Allouche S; Rouzier C; Saadi S; Jardel C; Slama A; Barth M; Verny C; Spinazzi M; Cassereau J; Colin E; Armelle M; Pereon Y; Martin-Negrier ML; Paquis-Flucklinger V; Letournel F; Lenaers G; Bonneau D; Reynier P; Amati-Bonneau P; Procaccio V
    Genet Med; 2021 Sep; 23(9):1769-1778. PubMed ID: 34040194
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number.
    Pillalamarri V; Shi W; Say C; Yang S; Lane J; Guallar E; Pankratz N; Arking DE
    HGG Adv; 2023 Jan; 4(1):100147. PubMed ID: 36311265
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Validation and clinical performance of a combined nuclear-mitochondrial next-generation sequencing and copy number variant analysis panel in a Canadian population.
    Levy MA; Kerkhof J; Belmonte FR; Kaufman BA; Bhai P; Brady L; Bursztyn LLCD; Tarnopolsky M; Rupar T; Sadikovic B
    Am J Med Genet A; 2021 Feb; 185(2):486-499. PubMed ID: 33300680
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Primary mitochondrial disorders and mimics: Insights from a large French cohort.
    Rouzier C; Pion E; Chaussenot A; Bris C; Ait-El-Mkadem Saadi S; Desquiret-Dumas V; Gueguen N; Fragaki K; Amati-Bonneau P; Barcia G; Gaignard P; Steffann J; Pennisi A; Bonnefont JP; Lebigot E; Bannwarth S; Francou B; Rucheton B; Sternberg D; Martin-Negrier ML; Trimouille A; Hardy G; Allouche S; Acquaviva-Bourdain C; Pagan C; Lebre AS; Reynier P; Cossee M; Attarian S; Paquis-Flucklinger V; ; Procaccio V
    Ann Clin Transl Neurol; 2024 Jun; 11(6):1478-1491. PubMed ID: 38703036
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Evaluating heteroplasmic variations of the mitochondrial genome from whole genome sequencing data.
    Duan M; Chen L; Ge Q; Lu N; Li J; Pan X; Qiao Y; Tu J; Lu Z
    Gene; 2019 May; 699():145-154. PubMed ID: 30876822
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.