330 related articles for article (PubMed ID: 31059585)
1. 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]
2. Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome.
Falk MJ; Pierce EA; Consugar M; Xie MH; Guadalupe M; Hardy O; Rappaport EF; Wallace DC; LeProust E; Gai X
Discov Med; 2012 Dec; 14(79):389-99. PubMed ID: 23272691
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Targeted exome sequencing of suspected mitochondrial disorders.
Lieber DS; Calvo SE; Shanahan K; Slate NG; Liu S; Hershman SG; Gold NB; Chapman BA; Thorburn DR; Berry GT; Schmahmann JD; Borowsky ML; Mueller DM; Sims KB; Mootha VK
Neurology; 2013 May; 80(19):1762-70. PubMed ID: 23596069
[TBL] [Abstract][Full Text] [Related]
5. MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Kerr M; Hume S; Omar F; Koo D; Barnes H; Khan M; Aman S; Wei XC; Alfuhaid H; McDonald R; McDonald L; Newell C; Sparkes R; Hittel D; Khan A
Mol Genet Metab; 2020; 131(1-2):66-82. PubMed ID: 32980267
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method.
Abicht A; Scharf F; Kleinle S; Schön U; Holinski-Feder E; Horvath R; Benet-Pagès A; Diebold I
Mol Genet Genomic Med; 2018 Nov; 6(6):1188-1198. PubMed ID: 30406974
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. Plasma-derived cell-free mitochondrial DNA: A novel non-invasive methodology to identify mitochondrial DNA haplogroups in humans.
Newell C; Hume S; Greenway SC; Podemski L; Shearer J; Khan A
Mol Genet Metab; 2018 Dec; 125(4):332-337. PubMed ID: 30361042
[TBL] [Abstract][Full Text] [Related]
13. Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.
Grigalionienė K; Burnytė B; Ambrozaitytė L; Utkus A
Orphanet J Rare Dis; 2023 Oct; 18(1):307. PubMed ID: 37784170
[TBL] [Abstract][Full Text] [Related]
14. Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Garret P; Bris C; Procaccio V; Amati-Bonneau P; Vabres P; Houcinat N; Tisserant E; Feillet F; Bruel AL; Quéré V; Philippe C; Sorlin A; Tran Mau-Them F; Vitobello A; Costa JM; Boughalem A; Trost D; Faivre L; Thauvin-Robinet C; Duffourd Y
Hum Mutat; 2019 Dec; 40(12):2430-2443. PubMed ID: 31379041
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. 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]
19. Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.
Lieber DS; Vafai SB; Horton LC; Slate NG; Liu S; Borowsky ML; Calvo SE; Schmahmann JD; Mootha VK
BMC Med Genet; 2012 Jan; 13():3. PubMed ID: 22226368
[TBL] [Abstract][Full Text] [Related]
20. Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder.
Wang Y; Picard M; Gu Z
PLoS Genet; 2016 Oct; 12(10):e1006391. PubMed ID: 27792786
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
