503 related articles for article (PubMed ID: 25735936)
1. 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]
2. 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]
3. 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]
4. Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
Al-Shamsi A; Hertecant JL; Souid AK; Al-Jasmi FA
Orphanet J Rare Dis; 2016 Jul; 11(1):94. PubMed ID: 27391121
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
Haack TB; Gorza M; Danhauser K; Mayr JA; Haberberger B; Wieland T; Kremer L; Strecker V; Graf E; Memari Y; Ahting U; Kopajtich R; Wortmann SB; Rodenburg RJ; Kotzaeridou U; Hoffmann GF; Sperl W; Wittig I; Wilichowski E; Schottmann G; Schuelke M; Plecko B; Stephani U; Strom TM; Meitinger T; Prokisch H; Freisinger P
Mol Genet Metab; 2014 Mar; 111(3):342-352. PubMed ID: 24461907
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
Ghaoui R; Cooper ST; Lek M; Jones K; Corbett A; Reddel SW; Needham M; Liang C; Waddell LB; Nicholson G; O'Grady G; Kaur S; Ong R; Davis M; Sue CM; Laing NG; North KN; MacArthur DG; Clarke NF
JAMA Neurol; 2015 Dec; 72(12):1424-32. PubMed ID: 26436962
[TBL] [Abstract][Full Text] [Related]
11. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M; Tokuzawa Y; Kishita Y; Nyuzuki H; Moriyama Y; Mizuno Y; Hirata T; Yatsuka Y; Yamashita-Sugahara Y; Nakachi Y; Kato H; Okuda A; Tamaru S; Borna NN; Banshoya K; Aigaki T; Sato-Miyata Y; Ohnuma K; Suzuki T; Nagao A; Maehata H; Matsuda F; Higasa K; Nagasaki M; Yasuda J; Yamamoto M; Fushimi T; Shimura M; Kaiho-Ichimoto K; Harashima H; Yamazaki T; Mori M; Murayama K; Ohtake A; Okazaki Y
PLoS Genet; 2016 Jan; 12(1):e1005679. PubMed ID: 26741492
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.
DaRe JT; Vasta V; Penn J; Tran NT; Hahn SH
BMC Med Genet; 2013 Nov; 14():118. PubMed ID: 24215330
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris E; Topf A; Barresi R; Hudson J; Powell H; Tellez J; Hicks D; Porter A; Bertoli M; Evangelista T; Marini-Betollo C; Magnússon Ó; Lek M; MacArthur D; Bushby K; Lochmüller H; Straub V
Orphanet J Rare Dis; 2017 Sep; 12(1):151. PubMed ID: 28877744
[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. Next-generation sequencing for mitochondrial disorders.
Carroll CJ; Brilhante V; Suomalainen A
Br J Pharmacol; 2014 Apr; 171(8):1837-53. PubMed ID: 24138576
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]