160 related articles for article (PubMed ID: 34050335)
1. Mitochondrial DNA variants in genomic data: diagnostic uplifts and predictive implications.
Macken WL; Lucassen AM; Hanna MG; Pitceathly RDS
Nat Rev Genet; 2021 Sep; 22(9):547-548. PubMed ID: 34050335
[No Abstract] [Full Text] [Related]
2. Mitochondrial Diseases: A Diagnostic Revolution.
Schon KR; Ratnaike T; van den Ameele J; Horvath R; Chinnery PF
Trends Genet; 2020 Sep; 36(9):702-717. PubMed ID: 32674947
[TBL] [Abstract][Full Text] [Related]
3. Molecular genetics of common mitochondrial DNA disorders.
Wong LJ
Beijing Da Xue Xue Bao Yi Xue Ban; 2005 Feb; 37(1):26-31. PubMed ID: 15719036
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Advancing genomic approaches to the molecular diagnosis of mitochondrial disease.
Stenton SL; Prokisch H
Essays Biochem; 2018 Jul; 62(3):399-408. PubMed ID: 29950319
[TBL] [Abstract][Full Text] [Related]
6. Applying genomic and transcriptomic advances to mitochondrial medicine.
Macken WL; Vandrovcova J; Hanna MG; Pitceathly RDS
Nat Rev Neurol; 2021 Apr; 17(4):215-230. PubMed ID: 33623159
[TBL] [Abstract][Full Text] [Related]
7. [Molecular diagnosis of mitochondrial DNA deletion].
Murayama K
Nihon Rinsho; 2002 Apr; 60 Suppl 4():261-5. PubMed ID: 12013861
[No Abstract] [Full Text] [Related]
8. [Molecular diagnosis of mitochondrial diseases using blood cells].
Murayama K
Nihon Rinsho; 2002 Apr; 60 Suppl 4():266-9. PubMed ID: 12013862
[No Abstract] [Full Text] [Related]
9. Diagnostic assays for defects in mtDNA replication and transcription in yeast and humans.
Shadel GS; Seidel-Rogol BL
Methods Cell Biol; 2007; 80():465-79. PubMed ID: 17445709
[No Abstract] [Full Text] [Related]
10. 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]
11. Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR; Horvath R; Wei W; Calabrese C; Tucci A; Ibañez K; Ratnaike T; Pitceathly RDS; Bugiardini E; Quinlivan R; Hanna MG; Clement E; Ashton E; Sayer JA; Brennan P; Josifova D; Izatt L; Fratter C; Nesbitt V; Barrett T; McMullen DJ; Smith A; Deshpande C; Smithson SF; Festenstein R; Canham N; Caulfield M; Houlden H; Rahman S; Chinnery PF;
BMJ; 2021 Nov; 375():e066288. PubMed ID: 34732400
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.
Wu TH; Peng J; Yang L; Chen YH; Lu XL; Huang JT; You JY; Ou-Yang WX; Sun YY; Xue YN; Mao X; Yan HM; Ren RN; Xie J; Chen ZH; Zhang VW; Lyu GZ; He F
Sci Rep; 2023 Mar; 13(1):4193. PubMed ID: 36918699
[TBL] [Abstract][Full Text] [Related]
14. Author Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.
Davis RL; Kumar KR; Watson EC; Sue CM
Neurology; 2023 Jan; 100(1):50. PubMed ID: 36572543
[No Abstract] [Full Text] [Related]
15. Reader Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis.
Schon K; Chinnery P
Neurology; 2023 Jan; 100(1):49-50. PubMed ID: 36572538
[No Abstract] [Full Text] [Related]
16. Next generation molecular diagnosis of mitochondrial disorders.
Wong LJ
Mitochondrion; 2013 Jul; 13(4):379-87. PubMed ID: 23473862
[TBL] [Abstract][Full Text] [Related]
17. [Whole genome sequencing of human mitochondrial DNA].
Akanuma J
Nihon Rinsho; 2002 Apr; 60 Suppl 4():683-7. PubMed ID: 12013973
[No Abstract] [Full Text] [Related]
18. Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
Akesson LS; Eggers S; Love CJ; Chong B; Krzesinski EI; Brown NJ; Tan TY; Richmond CM; Thorburn DR; Christodoulou J; Hunter MF; Lunke S; Stark Z
Eur J Hum Genet; 2019 Dec; 27(12):1821-1826. PubMed ID: 31358953
[TBL] [Abstract][Full Text] [Related]
19. Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease.
McCormick EM; Zolkipli-Cunningham Z; Falk MJ
Curr Opin Pediatr; 2018 Dec; 30(6):714-724. PubMed ID: 30199403
[TBL] [Abstract][Full Text] [Related]
20. Diagnosis of mitochondrial disorders applying massive pyrosequencing.
Kauffman MA; Gonzlez-Morón D; Consalvo D; Westergaard G; Vazquez M; Mancini E; Taratuto AL; Rey R; Kochen S
Mol Biol Rep; 2012 Jun; 39(6):6655-60. PubMed ID: 22302390
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
