BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: 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. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 2012;4:118ra10. [PMID: 22277967 DOI: 10.1126/scitranslmed.3003310] [Cited by in Crossref: 317] [Cited by in F6Publishing: 294] [Article Influence: 31.7] [Reference Citation Analysis]
Number Citing Articles
1 El-Hattab AW, Craigen WJ, Scaglia F. Mitochondrial DNA maintenance defects. Biochim Biophys Acta Mol Basis Dis 2017;1863:1539-55. [PMID: 28215579 DOI: 10.1016/j.bbadis.2017.02.017] [Cited by in Crossref: 107] [Cited by in F6Publishing: 99] [Article Influence: 21.4] [Reference Citation Analysis]
2 Shamseldin HE, Smith LL, Kentab A, Alkhalidi H, Summers B, Alsedairy H, Xiong Y, Gupta VA, Alkuraya FS. Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans. Hum Genet 2016;135:21-30. [PMID: 26541337 DOI: 10.1007/s00439-015-1608-8] [Cited by in Crossref: 22] [Cited by in F6Publishing: 17] [Article Influence: 3.1] [Reference Citation Analysis]
3 Cameron JM, MacKay N, Feigenbaum A, Tarnopolsky M, Blaser S, Robinson BH, Schulze A. Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome. Eur J Paediatr Neurol 2015;19:525-32. [PMID: 26008862 DOI: 10.1016/j.ejpn.2015.05.002] [Cited by in Crossref: 20] [Cited by in F6Publishing: 17] [Article Influence: 2.9] [Reference Citation Analysis]
4 Nogueira C, Almeida LS, Nesti C, Pezzini I, Videira A, Vilarinho L, Santorelli FM. Syndromes associated with mitochondrial DNA depletion. Ital J Pediatr 2014;40:34. [PMID: 24708634 DOI: 10.1186/1824-7288-40-34] [Cited by in Crossref: 32] [Cited by in F6Publishing: 26] [Article Influence: 4.0] [Reference Citation Analysis]
5 Goldstein A, Wolfe LA. The elusive magic pill: finding effective therapies for mitochondrial disorders. Neurotherapeutics 2013;10:320-8. [PMID: 23355364 DOI: 10.1007/s13311-012-0175-0] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 1.1] [Reference Citation Analysis]
6 Kaufman D, Curnutte M, McGuire AL. Clinical integration of next generation sequencing: a policy analysis. J Law Med Ethics 2014;42 Suppl 1:5-8. [PMID: 25298287 DOI: 10.1111/jlme.12158] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
7 Roy-Chowdhuri S, Roy S, Monaco SE, Routbort MJ, Pantanowitz L. Big data from small samples: Informatics of next-generation sequencing in cytopathology. Cancer Cytopathol 2017;125:236-44. [PMID: 27918649 DOI: 10.1002/cncy.21805] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
8 Pacitti D, Levene M, Garone C, Nirmalananthan N, Bax BE. Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far. Front Genet 2018;9:669. [PMID: 30627136 DOI: 10.3389/fgene.2018.00669] [Cited by in Crossref: 17] [Cited by in F6Publishing: 17] [Article Influence: 4.3] [Reference Citation Analysis]
9 Serre V, Rozanska A, Beinat M, Chretien D, Boddaert N, Munnich A, Rötig A, Chrzanowska-Lightowlers ZM. Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency. Biochim Biophys Acta 2013;1832:1304-12. [PMID: 23603806 DOI: 10.1016/j.bbadis.2013.04.014] [Cited by in Crossref: 51] [Cited by in F6Publishing: 51] [Article Influence: 5.7] [Reference Citation Analysis]
10 Molnar MJ, Kovacs GG. Mitochondrial diseases. Handb Clin Neurol 2017;145:147-55. [PMID: 28987165 DOI: 10.1016/B978-0-12-802395-2.00010-9] [Cited by in Crossref: 19] [Cited by in F6Publishing: 11] [Article Influence: 4.8] [Reference Citation Analysis]
11 Hess J, Kohl T, Kotrová M, Rönsch K, Paprotka T, Mohr V, Hutzenlaub T, Brüggemann M, Zengerle R, Niemann S, Paust N. Library preparation for next generation sequencing: A review of automation strategies. Biotechnology Advances 2020;41:107537. [DOI: 10.1016/j.biotechadv.2020.107537] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 9.0] [Reference Citation Analysis]
12 Paiva Coelho M, Martins E, Vilarinho L. Diagnosis, management, and follow-up of mitochondrial disorders in childhood: a personalized medicine in the new era of genome sequence. Eur J Pediatr 2019;178:21-32. [PMID: 30535772 DOI: 10.1007/s00431-018-3292-x] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.5] [Reference Citation Analysis]
13 Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet 2013;93:471-81. [PMID: 23993193 DOI: 10.1016/j.ajhg.2013.07.017] [Cited by in Crossref: 88] [Cited by in F6Publishing: 84] [Article Influence: 9.8] [Reference Citation Analysis]
14 Alam S, Abdullah CS, Aishwarya R, Morshed M, Bhuiyan MS. Molecular Perspectives of Mitochondrial Adaptations and Their Role in Cardiac Proteostasis. Front Physiol 2020;11:1054. [PMID: 32982788 DOI: 10.3389/fphys.2020.01054] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
15 Su C, Wang F. Clinical and molecular findings in a family expressing a novel heterozygous variant of the G elongation factor mitochondrial 1 gene. Exp Ther Med 2020;20:173. [PMID: 33093908 DOI: 10.3892/etm.2020.9303] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
16 Di Nottia M, Masciullo M, Verrigni D, Petrillo S, Modoni A, Rizzo V, Di Giuda D, Rizza T, Niceta M, Torraco A, Bianchi M, Santoro M, Bentivoglio AR, Bertini E, Piemonte F, Carrozzo R, Silvestri G. DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7. Clin Genet 2017;92:18-25. [PMID: 27460976 DOI: 10.1111/cge.12841] [Cited by in Crossref: 18] [Cited by in F6Publishing: 19] [Article Influence: 3.0] [Reference Citation Analysis]
17 Khan N. Recent advancements in diagnostic tools in mitochondrial energy metabolism diseases. Adv Med Sci 2016;61:244-8. [PMID: 26998934 DOI: 10.1016/j.advms.2016.02.002] [Cited by in Crossref: 1] [Article Influence: 0.2] [Reference Citation Analysis]
18 Mardian EB, Lines MA, Moore GP; Care4Rare Consortium. Autosomal dominant transmission of transient neonatal lactic acidosis: a case report. BMC Pediatr 2020;20:177. [PMID: 32312239 DOI: 10.1186/s12887-020-02085-x] [Reference Citation Analysis]
19 You C, Xu N, Qiu S, Li Y, Xu L, Li X, Yang L. A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation. Brain Behav 2020;10:e01791. [PMID: 32776492 DOI: 10.1002/brb3.1791] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
20 Davis RL, Liang C, Sue CM. Mitochondrial diseases. Neurogenetics, Part I. Elsevier; 2018. pp. 125-41. [DOI: 10.1016/b978-0-444-63233-3.00010-5] [Cited by in Crossref: 14] [Cited by in F6Publishing: 2] [Article Influence: 3.5] [Reference Citation Analysis]
21 DiMauro S. Mitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg Lecture. Neurology 2013;81:281-91. [PMID: 23858410 DOI: 10.1212/WNL.0b013e31829bfe89] [Cited by in Crossref: 24] [Cited by in F6Publishing: 7] [Article Influence: 2.7] [Reference Citation Analysis]
22 Castrillo JI, Oliver SG. 1 Yeast as a Model for Systems Biology Studies on Complex Diseases. In: Nowrousian M, editor. Fungal Genomics. Berlin: Springer Berlin Heidelberg; 2014. pp. 3-30. [DOI: 10.1007/978-3-642-45218-5_1] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
23 Konovalova S, Tyynismaa H. Mitochondrial aminoacyl-tRNA synthetases in human disease. Molecular Genetics and Metabolism 2013;108:206-11. [DOI: 10.1016/j.ymgme.2013.01.010] [Cited by in Crossref: 103] [Cited by in F6Publishing: 102] [Article Influence: 11.4] [Reference Citation Analysis]
24 Dames S, Chou LS, Xiao Y, Wayman T, Stocks J, Singleton M, Eilbeck K, Mao R. The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. J Mol Diagn 2013;15:526-34. [PMID: 23665194 DOI: 10.1016/j.jmoldx.2013.03.005] [Cited by in Crossref: 41] [Cited by in F6Publishing: 32] [Article Influence: 4.6] [Reference Citation Analysis]
25 Stranneheim H, Wedell A. Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders. J Intern Med 2016;279:3-15. [DOI: 10.1111/joim.12399] [Cited by in Crossref: 53] [Cited by in F6Publishing: 43] [Article Influence: 7.6] [Reference Citation Analysis]
26 DiMauro S, Schon EA, Carelli V, Hirano M. The clinical maze of mitochondrial neurology. Nat Rev Neurol 2013;9:429-44. [PMID: 23835535 DOI: 10.1038/nrneurol.2013.126] [Cited by in Crossref: 210] [Cited by in F6Publishing: 178] [Article Influence: 23.3] [Reference Citation Analysis]
27 Feichtinger RG, Oláhová M, Kishita Y, Garone C, Kremer LS, Yagi M, Uchiumi T, Jourdain AA, Thompson K, D'Souza AR, Kopajtich R, Alston CL, Koch J, Sperl W, Mastantuono E, Strom TM, Wortmann SB, Meitinger T, Pierre G, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, DiMauro S, Calvo SE, Mootha VK, Moggio M, Sciacco M, Comi GP, Ronchi D, Murayama K, Ohtake A, Rebelo-Guiomar P, Kohda M, Kang D, Mayr JA, Taylor RW, Okazaki Y, Minczuk M, Prokisch H. Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. Am J Hum Genet 2017;101:525-38. [PMID: 28942965 DOI: 10.1016/j.ajhg.2017.08.015] [Cited by in Crossref: 35] [Cited by in F6Publishing: 30] [Article Influence: 7.0] [Reference Citation Analysis]
28 Siriwardena K, Mackay N, Levandovskiy V, Blaser S, Raiman J, Kantor PF, Ackerley C, Robinson BH, Schulze A, Cameron JM. Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations. Mol Genet Metab 2013;108:40-50. [PMID: 23266196 DOI: 10.1016/j.ymgme.2012.11.282] [Cited by in Crossref: 25] [Cited by in F6Publishing: 18] [Article Influence: 2.5] [Reference Citation Analysis]
29 Cutting E, Banchero M, Beitelshees AL, Cimino JJ, Fiol GD, Gurses AP, Hoffman MA, Jeng LJ, Kawamoto K, Kelemen M, Pincus HA, Shuldiner AR, Williams MS, Pollin TI, Overby CL. User-centered design of multi-gene sequencing panel reports for clinicians. J Biomed Inform 2016;63:1-10. [PMID: 27423699 DOI: 10.1016/j.jbi.2016.07.014] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.3] [Reference Citation Analysis]
30 Pacheu-Grau D, Wasilewski M, Oeljeklaus S, Gibhardt CS, Aich A, Chudenkova M, Dennerlein S, Deckers M, Bogeski I, Warscheid B, Chacinska A, Rehling P. COA6 Facilitates Cytochrome c Oxidase Biogenesis as Thiol-reductase for Copper Metallochaperones in Mitochondria. J Mol Biol 2020;432:2067-79. [PMID: 32061935 DOI: 10.1016/j.jmb.2020.01.036] [Cited by in Crossref: 15] [Cited by in F6Publishing: 13] [Article Influence: 7.5] [Reference Citation Analysis]
31 Javitt GH, Carner KS. Regulation of next generation sequencing. J Law Med Ethics 2014;42 Suppl 1:9-21. [PMID: 25298288 DOI: 10.1111/jlme.12159] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 2.7] [Reference Citation Analysis]
32 Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE Jr, Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, DiMauro S, Paw BH. Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Am J Hum Genet 2013;93:906-14. [PMID: 24119684 DOI: 10.1016/j.ajhg.2013.09.011] [Cited by in Crossref: 35] [Cited by in F6Publishing: 31] [Article Influence: 3.9] [Reference Citation Analysis]
33 McAfee JL, Warren CB, Prayson RA. Ultrastructural examination of skin biopsies may assist in diagnosing mitochondrial cytopathy when muscle biopsies yield negative results. Ann Diagn Pathol 2017;29:41-5. [PMID: 28807341 DOI: 10.1016/j.anndiagpath.2017.02.010] [Cited by in Crossref: 2] [Article Influence: 0.4] [Reference Citation Analysis]
34 Martín-hernández E, García-silva MT, Quijada-fraile P, Rodríguez-garcía ME, Rivera H, Hernández-laín A, Coca-robinot D, Fernández-toral J, Arenas J, Martín MA, Martínez-azorín F. Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene. Pediatr Dev Pathol 2017;20:416-20. [DOI: 10.1177/1093526616686439] [Cited by in Crossref: 6] [Cited by in F6Publishing: 2] [Article Influence: 1.2] [Reference Citation Analysis]
35 Ramasubramanian R, Kalhan R, Jacobs DR Jr, Washko GR, Hou L, Gross MD, Guan W, Thyagarajan B. Gene expression of oxidative stress markers and lung function: A CARDIA lung study. Mol Genet Genomic Med 2021;9:e1832. [PMID: 34800009 DOI: 10.1002/mgg3.1832] [Reference Citation Analysis]
36 Valsesia A, Macé A, Jacquemont S, Beckmann JS, Kutalik Z. The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. Front Genet 2013;4:92. [PMID: 23750167 DOI: 10.3389/fgene.2013.00092] [Cited by in Crossref: 35] [Cited by in F6Publishing: 31] [Article Influence: 3.9] [Reference Citation Analysis]
37 Fuwa K, Kubota M, Kanno M, Miyabayashi H, Kawabata K, Kanno K, Shimizu M. Mitochondrial Disease as a Cause of Neonatal Hemophagocytic Lymphohistiocytosis. Case Rep Pediatr 2016;2016:3932646. [PMID: 27752381 DOI: 10.1155/2016/3932646] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
38 Dashti M, Alsaleh H, Eaaswarkhanth M, John SE, Nizam R, Melhem M, Hebbar P, Sharma P, Al-Mulla F, Thanaraj TA. Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait. Front Genet 2021;12:626260. [PMID: 33659027 DOI: 10.3389/fgene.2021.626260] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
39 Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet 2013;45:214-9. [PMID: 23313956 DOI: 10.1038/ng.2501] [Cited by in Crossref: 144] [Cited by in F6Publishing: 125] [Article Influence: 16.0] [Reference Citation Analysis]
40 Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet 2013;93:482-95. [PMID: 23993194 DOI: 10.1016/j.ajhg.2013.07.016] [Cited by in Crossref: 93] [Cited by in F6Publishing: 81] [Article Influence: 10.3] [Reference Citation Analysis]
41 Castro-Gago M, Dacruz-Alvarez D, Pintos-Martínez E, Beiras-Iglesias A, Delmiro A, Arenas J, Martín MÁ, Martínez-Azorín F. Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion. Eur J Paediatr Neurol 2014;18:796-800. [PMID: 24997086 DOI: 10.1016/j.ejpn.2014.06.005] [Cited by in Crossref: 15] [Cited by in F6Publishing: 16] [Article Influence: 1.9] [Reference Citation Analysis]
42 Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol 2015;77:753-9. [PMID: 25652200 DOI: 10.1002/ana.24362] [Cited by in Crossref: 419] [Cited by in F6Publishing: 370] [Article Influence: 59.9] [Reference Citation Analysis]
43 Haack TB, Rolinski B, Haberberger B, Zimmermann F, Schum J, Strecker V, Graf E, Athing U, Hoppen T, Wittig I, Sperl W, Freisinger P, Mayr JA, Strom TM, Meitinger T, Prokisch H. Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings. J Inherit Metab Dis 2013;36:55-62. [PMID: 22562699 DOI: 10.1007/s10545-012-9489-7] [Cited by in Crossref: 70] [Cited by in F6Publishing: 62] [Article Influence: 7.0] [Reference Citation Analysis]
44 Dang QL, Phan DH, Johnson AN, Pasapuleti M, Alkhaldi HA, Zhang F, Vik SB. Analysis of Human Mutations in the Supernumerary Subunits of Complex I. Life (Basel) 2020;10:E296. [PMID: 33233646 DOI: 10.3390/life10110296] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
45 Milone M, Wong L. Diagnosis of mitochondrial myopathies. Molecular Genetics and Metabolism 2013;110:35-41. [DOI: 10.1016/j.ymgme.2013.07.007] [Cited by in Crossref: 57] [Cited by in F6Publishing: 37] [Article Influence: 6.3] [Reference Citation Analysis]
46 Giachin G, Bouverot R, Acajjaoui S, Pantalone S, Soler-López M. Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases. Front Mol Biosci 2016;3:43. [PMID: 27597947 DOI: 10.3389/fmolb.2016.00043] [Cited by in Crossref: 48] [Cited by in F6Publishing: 44] [Article Influence: 8.0] [Reference Citation Analysis]
47 Edwards R, Eaglesfield R, Tokatlidis K. The mitochondrial intermembrane space: the most constricted mitochondrial sub-compartment with the largest variety of protein import pathways. Open Biol 2021;11:210002. [PMID: 33715390 DOI: 10.1098/rsob.210002] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
48 Schon EA, DiMauro S, Hirano M. Human mitochondrial DNA: roles of inherited and somatic mutations. Nat Rev Genet. 2012;13:878-890. [PMID: 23154810 DOI: 10.1038/nrg3275] [Cited by in Crossref: 426] [Cited by in F6Publishing: 382] [Article Influence: 47.3] [Reference Citation Analysis]
49 Thompson K, Collier JJ, Glasgow RIC, Robertson FM, Pyle A, Blakely EL, Alston CL, Oláhová M, McFarland R, Taylor RW. Recent advances in understanding the molecular genetic basis of mitochondrial disease. J Inherit Metab Dis 2020;43:36-50. [PMID: 31021000 DOI: 10.1002/jimd.12104] [Cited by in Crossref: 53] [Cited by in F6Publishing: 49] [Article Influence: 17.7] [Reference Citation Analysis]
50 Di Nottia M, Marchese M, Verrigni D, Mutti CD, Torraco A, Oliva R, Fernandez-Vizarra E, Morani F, Trani G, Rizza T, Ghezzi D, Ardissone A, Nesti C, Vasco G, Zeviani M, Minczuk M, Bertini E, Santorelli FM, Carrozzo R. A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly. Neurobiol Dis 2020;141:104880. [PMID: 32344152 DOI: 10.1016/j.nbd.2020.104880] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 6.0] [Reference Citation Analysis]
51 Coughlin CR 2nd, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet 2015;52:532-40. [PMID: 25787132 DOI: 10.1136/jmedgenet-2015-103049] [Cited by in Crossref: 44] [Cited by in F6Publishing: 42] [Article Influence: 6.3] [Reference Citation Analysis]
52 Cottrell CE, Al-Kateb H, Bredemeyer AJ, Duncavage EJ, Spencer DH, Abel HJ, Lockwood CM, Hagemann IS, O'Guin SM, Burcea LC, Sawyer CS, Oschwald DM, Stratman JL, Sher DA, Johnson MR, Brown JT, Cliften PF, George B, McIntosh LD, Shrivastava S, Nguyen TT, Payton JE, Watson MA, Crosby SD, Head RD, Mitra RD, Nagarajan R, Kulkarni S, Seibert K, Virgin HW 4th, Milbrandt J, Pfeifer JD. Validation of a next-generation sequencing assay for clinical molecular oncology. J Mol Diagn 2014;16:89-105. [PMID: 24211365 DOI: 10.1016/j.jmoldx.2013.10.002] [Cited by in Crossref: 148] [Cited by in F6Publishing: 122] [Article Influence: 16.4] [Reference Citation Analysis]
53 Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M. Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain 2012;135:3404-15. [PMID: 23043144 DOI: 10.1093/brain/aws258] [Cited by in Crossref: 64] [Cited by in F6Publishing: 56] [Article Influence: 6.4] [Reference Citation Analysis]
54 Rahn JJ, Bestman JE, Stackley KD, Chan SS. Zebrafish lacking functional DNA polymerase gamma survive to juvenile stage, despite rapid and sustained mitochondrial DNA depletion, altered energetics and growth. Nucleic Acids Res 2015;43:10338-52. [PMID: 26519465 DOI: 10.1093/nar/gkv1139] [Cited by in Crossref: 6] [Cited by in F6Publishing: 11] [Article Influence: 0.9] [Reference Citation Analysis]
55 Guo Y, Menezes MJ, Menezes MP, Liang J, Li D, Riley LG, Clarke NF, Andrews PI, Tian L, Webster R, Wang F, Liu X, Shen Y, Thorburn DR, Keating BJ, Engel A, Hakonarson H, Christodoulou J, Xu X. Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect. Neuromuscul Disord 2015;25:257-61. [PMID: 25557462 DOI: 10.1016/j.nmd.2014.11.017] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 1.0] [Reference Citation Analysis]
56 Yang Y, Wu J, Liu H, Chen X, Wang Y, Zhao M, He X. Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing. Genomics 2013;102:169-73. [PMID: 23773965 DOI: 10.1016/j.ygeno.2013.06.001] [Cited by in Crossref: 18] [Cited by in F6Publishing: 17] [Article Influence: 2.0] [Reference Citation Analysis]
57 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. Targeted exome sequencing of suspected mitochondrial disorders. Neurology 2013;80:1762-70. [PMID: 23596069 DOI: 10.1212/WNL.0b013e3182918c40] [Cited by in Crossref: 101] [Cited by in F6Publishing: 59] [Article Influence: 11.2] [Reference Citation Analysis]
58 Wilfond BS, Goddard KA. It's complicated: criteria for policy decisions for the clinical integration of genome-scale sequencing for reproductive decision making. Mol Genet Genomic Med 2015;3:239-42. [PMID: 26247041 DOI: 10.1002/mgg3.130] [Cited by in Crossref: 18] [Cited by in F6Publishing: 17] [Article Influence: 2.6] [Reference Citation Analysis]
59 Guleray N, Kosukcu C, Taskiran ZE, Simsek Kiper PO, Utine GE, Gucer S, Tokatli A, Boduroglu K, Alikasifoglu M. Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing. Fetal Pediatr Pathol 2020;39:163-71. [PMID: 31303091 DOI: 10.1080/15513815.2019.1639089] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
60 Bick D, Jones M, Taylor SL, Taft RJ, Belmont J. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J Med Genet 2019;56:783-91. [PMID: 31023718 DOI: 10.1136/jmedgenet-2019-106111] [Cited by in Crossref: 29] [Cited by in F6Publishing: 26] [Article Influence: 9.7] [Reference Citation Analysis]
61 Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. The genetics and pathology of mitochondrial disease. J Pathol 2017;241:236-50. [PMID: 27659608 DOI: 10.1002/path.4809] [Cited by in Crossref: 194] [Cited by in F6Publishing: 159] [Article Influence: 32.3] [Reference Citation Analysis]
62 Wu CC, Lin YH, Liu TC, Lin KN, Yang WS, Hsu CJ, Chen PL, Wu CM. Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing. Medicine (Baltimore) 2015;94:e1073. [PMID: 26166082 DOI: 10.1097/MD.0000000000001073] [Cited by in Crossref: 29] [Cited by in F6Publishing: 17] [Article Influence: 4.1] [Reference Citation Analysis]
63 Song C, Peng L, Wang S, Liu Y. A novel compound heterozygous mutation in AARS2 gene (c.965 G > A, p.R322H; c.334 G > C, p.G112R) identified in a Chinese patient with leukodystrophy involved in brain and spinal cord. J Hum Genet 2019;64:979-83. [DOI: 10.1038/s10038-019-0648-7] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
64 Bird MJ, Adant I, Windmolders P, Vander Elst I, Felgueira C, Altassan R, Gruenert SC, Ghesquière B, Witters P, Cassiman D, Vermeersch P. Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease. Metabolites 2019;9:E220. [PMID: 31658717 DOI: 10.3390/metabo9100220] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.7] [Reference Citation Analysis]
65 Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ. Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy. Hum Mutat 2015;36:34-8. [PMID: 25339201 DOI: 10.1002/humu.22715] [Cited by in Crossref: 53] [Cited by in F6Publishing: 47] [Article Influence: 6.6] [Reference Citation Analysis]
66 Goldstein A, Bhatia P, Vento JM. Update on nuclear mitochondrial genes and neurologic disorders. Semin Pediatr Neurol 2012;19:181-93. [PMID: 23245551 DOI: 10.1016/j.spen.2012.09.005] [Cited by in Crossref: 3] [Article Influence: 0.3] [Reference Citation Analysis]
67 Ghosh A, Pratt AT, Soma S, Theriault SG, Griffin AT, Trivedi PP, Gohil VM. Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesis. Hum Mol Genet 2016;25:660-71. [PMID: 26669719 DOI: 10.1093/hmg/ddv503] [Cited by in Crossref: 29] [Cited by in F6Publishing: 28] [Article Influence: 4.1] [Reference Citation Analysis]
68 McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, Kohane IS, Krier J, Lane WJ, Lautenbach D, Lebo MS, Machini K, MacRae CA, Azzariti DR, Murray MF, Seidman CE, Vassy JL, Green RC, Rehm HL; MedSeq Project. A systematic approach to the reporting of medically relevant findings from whole genome sequencing. BMC Med Genet 2014;15:134. [PMID: 25714468 DOI: 10.1186/s12881-014-0134-1] [Cited by in Crossref: 63] [Cited by in F6Publishing: 57] [Article Influence: 7.9] [Reference Citation Analysis]
69 Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljić B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR. Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. PLoS Genet 2013;9:e1004034. [PMID: 24385928 DOI: 10.1371/journal.pgen.1004034] [Cited by in Crossref: 74] [Cited by in F6Publishing: 63] [Article Influence: 8.2] [Reference Citation Analysis]
70 Uittenbogaard M, Chiaramello A. Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications. Mol Genet Metab 2020;131:38-52. [PMID: 32624334 DOI: 10.1016/j.ymgme.2020.06.011] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
71 Bakula D, Scheibye-Knudsen M. MitophAging: Mitophagy in Aging and Disease. Front Cell Dev Biol 2020;8:239. [PMID: 32373609 DOI: 10.3389/fcell.2020.00239] [Cited by in Crossref: 28] [Cited by in F6Publishing: 29] [Article Influence: 14.0] [Reference Citation Analysis]
72 Sundaresan P, Simpson DA, Sambare C, Duffy S, Lechner J, Dastane A, Dervan EW, Vallabh N, Chelerkar V, Deshpande M, O'Brien C, McKnight AJ, Willoughby CE. Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants. Genet Med 2015;17:279-84. [PMID: 25232845 DOI: 10.1038/gim.2014.121] [Cited by in Crossref: 22] [Cited by in F6Publishing: 18] [Article Influence: 2.8] [Reference Citation Analysis]
73 Gopan A, Sarma MS. Mitochondrial hepatopathy: Respiratory chain disorders- ‘breathing in and out of the liver’. World J Hepatol 2021; 13(11): 1707-1726 [PMID: 34904040 DOI: 10.4254/wjh.v13.i11.1707] [Reference Citation Analysis]
74 Lightowlers RN, Taylor RW, Turnbull DM. Mutations causing mitochondrial disease: What is new and what challenges remain? Science 2015;349:1494-9. [PMID: 26404827 DOI: 10.1126/science.aac7516] [Cited by in Crossref: 186] [Cited by in F6Publishing: 162] [Article Influence: 26.6] [Reference Citation Analysis]
75 Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Mitochondrial diseases. Nat Rev Dis Primers 2016;2:16080. [PMID: 27775730 DOI: 10.1038/nrdp.2016.80] [Cited by in Crossref: 475] [Cited by in F6Publishing: 411] [Article Influence: 79.2] [Reference Citation Analysis]
76 Yamamoto T, Emoto Y, Murayama K, Tanaka H, Kuriu Y, Ohtake A, Matoba R. Metabolic autopsy with postmortem cultured fibroblasts in sudden unexpected death in infancy: Diagnosis of mitochondrial respiratory chain disorders. Molecular Genetics and Metabolism 2012;106:474-7. [DOI: 10.1016/j.ymgme.2012.05.002] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 0.7] [Reference Citation Analysis]
77 Wei X, Dai Y, Yu P, Qu N, Lan Z, Hong X, Sun Y, Yang G, Xie S, Shi Q, Zhou H, Zhu Q, Chu Y, Yao F, Wang J, He J, Yang Y, Liang Y, Yang Y, Qi M, Yang L, Wang W, Wu H, Duan J, Shen C, Wang J, Cui L, Yi X. Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study. Eur J Hum Genet 2014;22:110-8. [PMID: 23756440 DOI: 10.1038/ejhg.2013.82] [Cited by in Crossref: 48] [Cited by in F6Publishing: 43] [Article Influence: 5.3] [Reference Citation Analysis]
78 Ortigoza-escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-pombo P, Pérez-dueñas B. Ndufs4 related Leigh syndrome: A case report and review of the literature. Mitochondrion 2016;28:73-8. [DOI: 10.1016/j.mito.2016.04.001] [Cited by in Crossref: 29] [Cited by in F6Publishing: 27] [Article Influence: 4.8] [Reference Citation Analysis]
79 Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA. Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genet Med 2015;17:253-61. [PMID: 25412400 DOI: 10.1038/gim.2014.172] [Cited by in Crossref: 141] [Cited by in F6Publishing: 119] [Article Influence: 17.6] [Reference Citation Analysis]
80 Khatter S, Puri RD, Bijarnia-mahay S, Aggarwal M, Ramprasad V, Saxena R, Verma IC. Sengers syndrome in Asian Indians – two novel mutations and variant phenotype-genotype correlation. TRD 2017;2:157-64. [DOI: 10.3233/trd-170017] [Cited by in Crossref: 2] [Article Influence: 0.4] [Reference Citation Analysis]
81 Lehrach H. DNA sequencing methods in human genetics and disease research. F1000Prime Rep 2013;5:34. [PMID: 24049638 DOI: 10.12703/P5-34] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
82 Lou X, Shi H, Wen S, Li Y, Wei X, Xie J, Ma L, Yang Y, Fang H, Lyu J. A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. J Hum Genet 2018;63:1269-72. [DOI: 10.1038/s10038-018-0505-0] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.5] [Reference Citation Analysis]
83 Jones MR, Good JM. Targeted capture in evolutionary and ecological genomics. Mol Ecol 2016;25:185-202. [PMID: 26137993 DOI: 10.1111/mec.13304] [Cited by in Crossref: 205] [Cited by in F6Publishing: 165] [Article Influence: 29.3] [Reference Citation Analysis]
84 Brischigliaro M, Zeviani M. Cytochrome c oxidase deficiency. Biochim Biophys Acta Bioenerg 2021;1862:148335. [PMID: 33171185 DOI: 10.1016/j.bbabio.2020.148335] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
85 Wortmann SB, Koolen DA, Smeitink JA, van den Heuvel L, Rodenburg RJ. Whole exome sequencing of suspected mitochondrial patients in clinical practice. J Inherit Metab Dis 2015;38:437-43. [PMID: 25735936 DOI: 10.1007/s10545-015-9823-y] [Cited by in Crossref: 132] [Cited by in F6Publishing: 110] [Article Influence: 18.9] [Reference Citation Analysis]
86 Nicolas E, Tricarico R, Savage M, Golemis EA, Hall MJ. Disease-Associated Genetic Variation in Human Mitochondrial Protein Import. Am J Hum Genet 2019;104:784-801. [PMID: 31051112 DOI: 10.1016/j.ajhg.2019.03.019] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
87 Ye F, Samuels DC, Clark T, Guo Y. High-throughput sequencing in mitochondrial DNA research. Mitochondrion 2014;17:157-63. [PMID: 24859348 DOI: 10.1016/j.mito.2014.05.004] [Cited by in Crossref: 55] [Cited by in F6Publishing: 50] [Article Influence: 6.9] [Reference Citation Analysis]
88 McCormick E, Place E, Falk MJ. Molecular genetic testing for mitochondrial disease: from one generation to the next. Neurotherapeutics 2013;10:251-61. [PMID: 23269497 DOI: 10.1007/s13311-012-0174-1] [Cited by in Crossref: 49] [Cited by in F6Publishing: 43] [Article Influence: 5.4] [Reference Citation Analysis]
89 Dudek J, Maack C. Mechano-energetic aspects of Barth syndrome. J Inherit Metab Dis 2021. [PMID: 34423473 DOI: 10.1002/jimd.12427] [Reference Citation Analysis]
90 Oliveira R, Sommerville EW, Thompson K, Nunes J, Pyle A, Grazina M, Chinnery PF, Diogo L, Garcia P, Taylor RW. Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features. JIMD Rep 2017;33:61-8. [PMID: 27571996 DOI: 10.1007/8904_2016_581] [Cited by in Crossref: 22] [Cited by in F6Publishing: 22] [Article Influence: 3.7] [Reference Citation Analysis]
91 Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet. 2014;133:1-9. [PMID: 24077912 DOI: 10.1007/s00439-013-1358-4] [Cited by in Crossref: 872] [Cited by in F6Publishing: 779] [Article Influence: 109.0] [Reference Citation Analysis]
92 Hardie RA, van Dam E, Cowley M, Han TL, Balaban S, Pajic M, Pinese M, Iconomou M, Shearer RF, McKenna J, Miller D, Waddell N, Pearson JV, Grimmond SM, Sazanov L, Biankin AV, Villas-Boas S, Hoy AJ, Turner N, Saunders DN; Australian Pancreatic Cancer Genome Initiative. Mitochondrial mutations and metabolic adaptation in pancreatic cancer. Cancer Metab 2017;5:2. [PMID: 28163917 DOI: 10.1186/s40170-017-0164-1] [Cited by in Crossref: 32] [Cited by in F6Publishing: 34] [Article Influence: 6.4] [Reference Citation Analysis]
93 Gaudin M, Desnues C. Hybrid Capture-Based Next Generation Sequencing and Its Application to Human Infectious Diseases. Front Microbiol 2018;9:2924. [PMID: 30542340 DOI: 10.3389/fmicb.2018.02924] [Cited by in Crossref: 25] [Cited by in F6Publishing: 19] [Article Influence: 6.3] [Reference Citation Analysis]
94 Feldman AG, Sokol RJ, Hardison RM, Alonso EM, Squires RH, Narkewicz MR; Pediatric Acute Liver Failure Study Group. Lactate and Lactate: Pyruvate Ratio in the Diagnosis and Outcomes of Pediatric Acute Liver Failure. J Pediatr 2017;182:217-222.e3. [PMID: 28088395 DOI: 10.1016/j.jpeds.2016.12.031] [Cited by in Crossref: 14] [Cited by in F6Publishing: 12] [Article Influence: 2.8] [Reference Citation Analysis]
95 Hahn SH. Targeted next-generation sequencing expands the spectrum of mitochondrial disorders. Genome Med 2012;4:22. [PMID: 22445237 DOI: 10.1186/gm321] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
96 Park KJ, Park S, Lee E, Park JH, Park JH, Park HD, Lee SY, Kim JW. A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening. Ann Lab Med 2016;36:561-72. [PMID: 27578510 DOI: 10.3343/alm.2016.36.6.561] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 2.4] [Reference Citation Analysis]
97 Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC, Hock DH, de Caestecker C, Menezes M, Massey S, Ho G, Pisano T, Glover S, Gusman J, Stroud DA, Dinger M, Guerrini R, Macara IG, Christodoulou J. Mutations in the exocyst component EXOC2 cause severe defects in human brain development. J Exp Med 2020;217:e20192040. [PMID: 32639540 DOI: 10.1084/jem.20192040] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
98 Aldahmesh MA, Khan AO, Mohamed JY, Alghamdi MH, Alkuraya FS. Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus. Hum Mutat 2012;33:960-2. [DOI: 10.1002/humu.22071] [Cited by in Crossref: 48] [Cited by in F6Publishing: 44] [Article Influence: 4.8] [Reference Citation Analysis]
99 Komulainen T, Hautakangas MR, Hinttala R, Pakanen S, Vähäsarja V, Lehenkari P, Olsen P, Vieira P, Saarenpää-Heikkilä O, Palmio J, Tuominen H, Kinnunen P, Majamaa K, Rantala H, Uusimaa J. Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes. JIMD Rep 2015;23:91-100. [PMID: 25940035 DOI: 10.1007/8904_2015_438] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
100 Pacheu-Grau D, Bareth B, Dudek J, Juris L, Vögtle FN, Wissel M, Leary SC, Dennerlein S, Rehling P, Deckers M. Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. Cell Metab 2015;21:823-33. [PMID: 25959673 DOI: 10.1016/j.cmet.2015.04.012] [Cited by in Crossref: 46] [Cited by in F6Publishing: 44] [Article Influence: 6.6] [Reference Citation Analysis]
101 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. The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum. J Pediatr Endocrinol Metab 2021;34:417-30. [PMID: 33629572 DOI: 10.1515/jpem-2020-0410] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
102 Fan HC, Lee HF, Yue CT, Chi CS. Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes. Life (Basel) 2021;11:1111. [PMID: 34832987 DOI: 10.3390/life11111111] [Reference Citation Analysis]
103 Lin T, Gu J, Qu K, Zhang X, Ma X, Miao R, Xiang X, Fu Y, Niu W, She J, Liu C. A new risk score based on twelve hepatocellular carcinoma-specific gene expression can predict the patients' prognosis. Aging (Albany NY) 2018;10:2480-97. [PMID: 30243023 DOI: 10.18632/aging.101563] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 2.7] [Reference Citation Analysis]
104 Ahmed N, Ronchi D, Comi GP. Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability. Int J Mol Sci 2015;16:18054-76. [PMID: 26251896 DOI: 10.3390/ijms160818054] [Cited by in Crossref: 19] [Cited by in F6Publishing: 14] [Article Influence: 2.7] [Reference Citation Analysis]
105 Schnekenberg RP, Németh AH. Next-generation sequencing in childhood disorders. Arch Dis Child. 2014;99:284-290. [PMID: 24170689 DOI: 10.1136/archdischild-2012-302881] [Cited by in Crossref: 18] [Cited by in F6Publishing: 14] [Article Influence: 2.0] [Reference Citation Analysis]
106 Srivastava S, Butala A, Mahida S, Richter J, Mu W, Poretti A, Vernon H, VanGerpen J, Atwal PS, Middlebrooks EH, Zee DS, Naidu S. Expansion of the clinical spectrum associated with AARS2-related disorders. Am J Med Genet A 2019;179:1556-64. [PMID: 31099476 DOI: 10.1002/ajmg.a.61188] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 2.0] [Reference Citation Analysis]
107 Moses J, Keilman A, Worley S, Radhakrishnan K, Rothner AD, Parikh S. Approach to the diagnosis and treatment of cyclic vomiting syndrome: a large single-center experience with 106 patients. Pediatr Neurol 2014;50:569-73. [PMID: 24842256 DOI: 10.1016/j.pediatrneurol.2014.02.009] [Cited by in Crossref: 21] [Cited by in F6Publishing: 17] [Article Influence: 2.6] [Reference Citation Analysis]
108 Bouhlal Y, Martinez S, Gong H, Dumas K, Shieh JT. Twin Mitochondrial Sequence Analysis. Mol Genet Genomic Med 2013;1:174-86. [PMID: 24040623 DOI: 10.1002/mgg3.20] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 0.8] [Reference Citation Analysis]
109 Scala M, Brigati G, Fiorillo C, Nesti C, Rubegni A, Pedemonte M, Bruno C, Severino M, Derchi M, Minetti C, Santorelli FM. Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings. Neurogenetics 2019;20:165-72. [PMID: 31267352 DOI: 10.1007/s10048-019-00582-5] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
110 Rodenburg RJ. Mitochondrial complex I-linked disease. Biochimica et Biophysica Acta (BBA) - Bioenergetics 2016;1857:938-45. [DOI: 10.1016/j.bbabio.2016.02.012] [Cited by in Crossref: 89] [Cited by in F6Publishing: 78] [Article Influence: 14.8] [Reference Citation Analysis]
111 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. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. PLoS Genet 2016;12:e1005679. [PMID: 26741492 DOI: 10.1371/journal.pgen.1005679] [Cited by in Crossref: 152] [Cited by in F6Publishing: 135] [Article Influence: 25.3] [Reference Citation Analysis]
112 Rodríguez-García ME, Cotrina-Vinagre FJ, Bellusci M, Martínez de Aragón A, Hernández-Sánchez L, Carnicero-Rodríguez P, Martín-Hernández E, Martínez-Azorín F. A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome. Eur J Hum Genet 2019;27:1369-78. [PMID: 31053780 DOI: 10.1038/s41431-019-0418-1] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
113 Wong LJ. Next generation molecular diagnosis of mitochondrial disorders. Mitochondrion 2013;13:379-87. [PMID: 23473862 DOI: 10.1016/j.mito.2013.02.001] [Cited by in Crossref: 52] [Cited by in F6Publishing: 37] [Article Influence: 5.8] [Reference Citation Analysis]
114 Carroll CJ, Brilhante V, Suomalainen A. Next-generation sequencing for mitochondrial disorders. Br J Pharmacol 2014;171:1837-53. [PMID: 24138576 DOI: 10.1111/bph.12469] [Cited by in Crossref: 34] [Cited by in F6Publishing: 30] [Article Influence: 4.3] [Reference Citation Analysis]
115 Desai R, Frazier AE, Durigon R, Patel H, Jones AW, Dalla Rosa I, Lake NJ, Compton AG, Mountford HS, Tucker EJ, Mitchell ALR, Jackson D, Sesay A, Di Re M, van den Heuvel LP, Burke D, Francis D, Lunke S, McGillivray G, Mandelstam S, Mochel F, Keren B, Jardel C, Turner AM, Ian Andrews P, Smeitink J, Spelbrink JN, Heales SJ, Kohda M, Ohtake A, Murayama K, Okazaki Y, Lombès A, Holt IJ, Thorburn DR, Spinazzola A. ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism. Brain 2017;140:1595-610. [PMID: 28549128 DOI: 10.1093/brain/awx094] [Cited by in Crossref: 59] [Cited by in F6Publishing: 50] [Article Influence: 11.8] [Reference Citation Analysis]
116 Aich A, Wang C, Chowdhury A, Ronsör C, Pacheu-Grau D, Richter-Dennerlein R, Dennerlein S, Rehling P. COX16 promotes COX2 metallation and assembly during respiratory complex IV biogenesis. Elife 2018;7:e32572. [PMID: 29381136 DOI: 10.7554/eLife.32572] [Cited by in Crossref: 23] [Cited by in F6Publishing: 18] [Article Influence: 5.8] [Reference Citation Analysis]
117 S Franco S, Szczesna K, Iliou MS, Al-Qahtani M, Mobasheri A, Kobolák J, Dinnyés A. In vitro models of cancer stem cells and clinical applications. BMC Cancer 2016;16:738. [PMID: 27766946 DOI: 10.1186/s12885-016-2774-3] [Cited by in Crossref: 32] [Cited by in F6Publishing: 30] [Article Influence: 5.3] [Reference Citation Analysis]
118 Area-gomez E, Schon EA. Mitochondrial Genetics and Disease. J Child Neurol 2014;29:1208-15. [DOI: 10.1177/0883073814539561] [Cited by in Crossref: 27] [Cited by in F6Publishing: 21] [Article Influence: 3.4] [Reference Citation Analysis]
119 Garone C, Rubio JC, Calvo SE, Naini A, Tanji K, Dimauro S, Mootha VK, Hirano M. MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. Arch Neurol 2012;69:1648-51. [PMID: 22964873 DOI: 10.1001/archneurol.2012.405] [Cited by in Crossref: 53] [Cited by in F6Publishing: 43] [Article Influence: 5.9] [Reference Citation Analysis]
120 Garone C, Minczuk M, Stenton SL, Prokisch H. Advancing genomic approaches to the molecular diagnosis of mitochondrial disease. Essays in Biochemistry 2018;62:399-408. [DOI: 10.1042/ebc20170110] [Cited by in Crossref: 35] [Cited by in F6Publishing: 19] [Article Influence: 8.8] [Reference Citation Analysis]
121 Towbin JA, Jefferies JL. Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism. Circ Res 2017;121:838-54. [PMID: 28912186 DOI: 10.1161/CIRCRESAHA.117.310987] [Cited by in Crossref: 56] [Cited by in F6Publishing: 23] [Article Influence: 11.2] [Reference Citation Analysis]
122 Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology. J Hepatol 2014;61:1056-63. [PMID: 25016221 DOI: 10.1016/j.jhep.2014.06.038] [Cited by in Crossref: 31] [Cited by in F6Publishing: 32] [Article Influence: 3.9] [Reference Citation Analysis]
123 Vafai SB, Mootha VK. Mitochondrial disorders as windows into an ancient organelle. Nature 2012;491:374-83. [DOI: 10.1038/nature11707] [Cited by in Crossref: 441] [Cited by in F6Publishing: 392] [Article Influence: 44.1] [Reference Citation Analysis]
124 Kanako KI, Sakakibara N, Murayama K, Nagatani K, Murata S, Otake A, Koga Y, Suzuki H, Uehara T, Kosaki K, Yoshiura KI, Mishima H, Ichimiya Y, Mushimoto Y, Horinouchi T, Nagano C, Yamamura T, Iijima K, Nozu K. BCS1L mutations produce Fanconi syndrome with developmental disability. J Hum Genet 2021. [PMID: 34650211 DOI: 10.1038/s10038-021-00984-0] [Reference Citation Analysis]
125 Cui H, Li F, Chen D, Wang G, Truong CK, Enns GM, Graham B, Milone M, Landsverk ML, Wang J, Zhang W, Wong LJ. Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders. Genet Med 2013;15:388-94. [PMID: 23288206 DOI: 10.1038/gim.2012.144] [Cited by in Crossref: 75] [Cited by in F6Publishing: 59] [Article Influence: 8.3] [Reference Citation Analysis]
126 Dumur CI, Kraft AO. Next-generation sequencing and the cytopathologist. Cancer Cytopathol 2015;123:69-70. [PMID: 25557465 DOI: 10.1002/cncy.21515] [Cited by in Crossref: 7] [Cited by in F6Publishing: 5] [Article Influence: 0.9] [Reference Citation Analysis]
127 Foo JN, Liu J, Tan EK. Next-generation sequencing diagnostics for neurological diseases/disorders: from a clinical perspective. Hum Genet 2013;132:721-34. [PMID: 23525706 DOI: 10.1007/s00439-013-1287-2] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 1.0] [Reference Citation Analysis]
128 Gusic M, Prokisch H. Genetic basis of mitochondrial diseases. FEBS Lett 2021;595:1132-58. [PMID: 33655490 DOI: 10.1002/1873-3468.14068] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 5.0] [Reference Citation Analysis]
129 Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, Cohen BH, Davis RL, Falk MJ, Fratter C, Horvath R, Koenig MK, Mancuso M, Mccormack S, Mccormick EM, Mcfarland R, Nesbitt V, Schiff M, Steele H, Stockler S, Sue C, Tarnopolsky M, Thorburn DR, Vockley J, Rahman S. Diagnosis of ‘possible’ mitochondrial disease: an existential crisis. J Med Genet 2019;56:123-30. [DOI: 10.1136/jmedgenet-2018-105800] [Cited by in Crossref: 21] [Cited by in F6Publishing: 21] [Article Influence: 7.0] [Reference Citation Analysis]
130 Peeters A, Shinde AB, Dirkx R, Smet J, De Bock K, Espeel M, Vanhorebeek I, Vanlander A, Van Coster R, Carmeliet P, Fransen M, Van Veldhoven PP, Baes M. Mitochondria in peroxisome-deficient hepatocytes exhibit impaired respiration, depleted DNA, and PGC-1α independent proliferation. Biochim Biophys Acta 2015;1853:285-98. [PMID: 25450972 DOI: 10.1016/j.bbamcr.2014.11.017] [Cited by in Crossref: 46] [Cited by in F6Publishing: 42] [Article Influence: 5.8] [Reference Citation Analysis]
131 Kiraly-Borri C, Jevon G, Ji W, Jeffries L, Ricciardi JL, Konstantino M, Ackerman KG, Lakhani SA. Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum. Cold Spring Harb Mol Case Stud 2019;5:a003699. [PMID: 30819764 DOI: 10.1101/mcs.a003699] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
132 Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H. Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. Orphanet J Rare Dis 2014;9:119. [PMID: 25208612 DOI: 10.1186/s13023-014-0119-3] [Cited by in Crossref: 48] [Cited by in F6Publishing: 48] [Article Influence: 6.0] [Reference Citation Analysis]
133 Rahman S, Mayr JA. Disorders of Oxidative Phosphorylation. In: Saudubray J, Baumgartner MR, Walter J, editors. Inborn Metabolic Diseases. Berlin: Springer Berlin Heidelberg; 2016. pp. 223-42. [DOI: 10.1007/978-3-662-49771-5_14] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
134 Lappin FM, Shaw RL, Macqueen DJ. Targeted sequencing for high-resolution evolutionary analyses following genome duplication in salmonid fish: Proof of concept for key components of the insulin-like growth factor axis. Mar Genomics 2016;30:15-26. [PMID: 27346185 DOI: 10.1016/j.margen.2016.06.003] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 2.2] [Reference Citation Analysis]
135 Roca I, González-castro L, Maynou J, Palacios L, Fernández H, Couce ML, Fernández-marmiesse A. PattRec: An easy-to-use CNV detection tool optimized for targeted NGS assays with diagnostic purposes. Genomics 2020;112:1245-56. [DOI: 10.1016/j.ygeno.2019.07.011] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
136 Witters P, Saada A, Honzik T, Tesarova M, Kleinle S, Horvath R, Goldstein A, Morava E. Revisiting mitochondrial diagnostic criteria in the new era of genomics. Genet Med 2018;20:444-51. [DOI: 10.1038/gim.2017.125] [Cited by in Crossref: 35] [Cited by in F6Publishing: 34] [Article Influence: 7.0] [Reference Citation Analysis]
137 Ahola S, Isohanni P, Euro L, Brilhante V, Palotie A, Pihko H, Lönnqvist T, Lehtonen T, Laine J, Tyynismaa H, Suomalainen A. Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. Neurology 2014;83:743-51. [PMID: 25037205 DOI: 10.1212/WNL.0000000000000716] [Cited by in Crossref: 28] [Cited by in F6Publishing: 16] [Article Influence: 3.5] [Reference Citation Analysis]
138 Jackson TD, Palmer CS, Stojanovski D. Mitochondrial diseases caused by dysfunctional mitochondrial protein import. Biochem Soc Trans 2018;46:1225-38. [PMID: 30287509 DOI: 10.1042/BST20180239] [Cited by in Crossref: 17] [Cited by in F6Publishing: 10] [Article Influence: 4.3] [Reference Citation Analysis]
139 Castellana S, Biagini T, Petrizzelli F, Parca L, Panzironi N, Caputo V, Vescovi AL, Carella M, Mazza T. MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits. Nucleic Acids Res 2021;49:D1282-8. [PMID: 33300029 DOI: 10.1093/nar/gkaa1032] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
140 Qureshi IA, Mehler MF. Epigenetic mechanisms underlying the pathogenesis of neurogenetic diseases. Neurotherapeutics 2014;11:708-20. [PMID: 25261112 DOI: 10.1007/s13311-014-0302-1] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 1.7] [Reference Citation Analysis]
141 Dallabona C, Abbink TEM, Carrozzo R, Torraco A, Legati A, van Berkel CGM, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E. LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. Brain 2016;139:782-94. [DOI: 10.1093/brain/awv392] [Cited by in Crossref: 40] [Cited by in F6Publishing: 35] [Article Influence: 6.7] [Reference Citation Analysis]
142 Foo JN, Liu JJ, Tan EK. Whole-genome and whole-exome sequencing in neurological diseases. Nat Rev Neurol. 2012;8:508-517. [PMID: 22847385 DOI: 10.1038/nrneurol.2012.148] [Cited by in Crossref: 69] [Cited by in F6Publishing: 68] [Article Influence: 6.9] [Reference Citation Analysis]
143 Camp KM, Krotoski D, Parisi MA, Gwinn KA, Cohen BH, Cox CS, Enns GM, Falk MJ, Goldstein AC, Gopal-Srivastava R, Gorman GS, Hersh SP, Hirano M, Hoffman FA, Karaa A, MacLeod EL, McFarland R, Mohan C, Mulberg AE, Odenkirchen JC, Parikh S, Rutherford PJ, Suggs-Anderson SK, Tang WH, Vockley J, Wolfe LA, Yannicelli S, Yeske PE, Coates PM. Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. Mol Genet Metab 2016;119:187-206. [PMID: 27665271 DOI: 10.1016/j.ymgme.2016.09.002] [Cited by in Crossref: 29] [Cited by in F6Publishing: 24] [Article Influence: 4.8] [Reference Citation Analysis]
144 Ravn K, Schönewolf-Greulich B, Hansen RM, Bohr AH, Duno M, Wibrand F, Ostergaard E. Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations. Mol Genet Metab Rep 2015;3:5-10. [PMID: 26937387 DOI: 10.1016/j.ymgmr.2015.01.004] [Cited by in Crossref: 6] [Cited by in F6Publishing: 8] [Article Influence: 0.9] [Reference Citation Analysis]
145 Valencia CA, Wang X, Wang J, Peters A, Simmons JR, Moran MC, Mathur A, Husami A, Qian Y, Sheridan R, Bove KE, Witte D, Huang T, Miethke AG. Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism. PLoS One 2016;11:e0156738. [PMID: 27483465 DOI: 10.1371/journal.pone.0156738] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.8] [Reference Citation Analysis]
146 Schwartzentruber J, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, Thiffault I, Sheldon KM, Massicotte C, Patry L, Simon M, Zare AS, McKernan KJ; FORGE Canada Consortium, Michaud J, Boles RG, Deal CL, Desilets V, Shoubridge EA, Samuels ME. Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome. Hum Mutat. 2014;35:1285-1289. [PMID: 25130867 DOI: 10.1002/humu.22629] [Cited by in Crossref: 9] [Cited by in F6Publishing: 39] [Article Influence: 1.1] [Reference Citation Analysis]
147 Basel D. Mitochondrial DNA Depletion Syndromes. Clinics in Perinatology 2020;47:123-41. [DOI: 10.1016/j.clp.2019.10.008] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
148 Chen H, Zhou X, Wang J, Wang X, Liu L, Wu S, Li T, Chen S, Yang J, Sham PC, Zhu G, Zhang X, Wang B. Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid Polyneuropathy. Sci Rep 2016;6:26362. [PMID: 27212199 DOI: 10.1038/srep26362] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.7] [Reference Citation Analysis]
149 Collet M, Assouline Z, Bonnet D, Rio M, Iserin F, Sidi D, Goldenberg A, Lardennois C, Metodiev MD, Haberberger B, Haack T, Munnich A, Prokisch H, Rötig A. High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood. Eur J Hum Genet 2016;24:1112-6. [PMID: 26669660 DOI: 10.1038/ejhg.2015.264] [Cited by in Crossref: 20] [Cited by in F6Publishing: 13] [Article Influence: 2.9] [Reference Citation Analysis]
150 Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA; Mitochondrial Medicine Society Clinical Directors Working Group., MMS Clinical Director's Work Group. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion 2014;14:26-33. [PMID: 23891656 DOI: 10.1016/j.mito.2013.07.116] [Cited by in Crossref: 27] [Cited by in F6Publishing: 24] [Article Influence: 3.0] [Reference Citation Analysis]
151 Stroud DA, Maher MJ, Lindau C, Vögtle FN, Frazier AE, Surgenor E, Mountford H, Singh AP, Bonas M, Oeljeklaus S, Warscheid B, Meisinger C, Thorburn DR, Ryan MT. COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2. Hum Mol Genet 2015;24:5404-15. [PMID: 26160915 DOI: 10.1093/hmg/ddv265] [Cited by in Crossref: 71] [Cited by in F6Publishing: 67] [Article Influence: 10.1] [Reference Citation Analysis]
152 Hashemi SS, Zare-Abdollahi D, Bakhshandeh MK, Vafaee A, Abolhasani S, Inanloo Rahatloo K, DanaeeFard F, Farboodi N, Rohani M, Alavi A. Clinical spectrum in multiple families with primary COQ10 deficiency. Am J Med Genet A 2021;185:440-52. [PMID: 33215859 DOI: 10.1002/ajmg.a.61983] [Reference Citation Analysis]
153 Tang Y, Qin Q, Xing Y, Guo D, Di L, Jia J. AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy. Mol Genet Genomic Med 2019;7:e00582. [PMID: 30706699 DOI: 10.1002/mgg3.582] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
154 Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med 2015;17:689-701. [PMID: 25503498 DOI: 10.1038/gim.2014.177] [Cited by in Crossref: 226] [Cited by in F6Publishing: 169] [Article Influence: 28.3] [Reference Citation Analysis]
155 Fernández-Marmiesse A, Morey M, Pineda M, Eiris J, Couce ML, Castro-Gago M, Fraga JM, Lacerda L, Gouveia S, Pérez-Poyato MS, Armstrong J, Castiñeiras D, Cocho JA. Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. Orphanet J Rare Dis 2014;9:59. [PMID: 24767253 DOI: 10.1186/1750-1172-9-59] [Cited by in Crossref: 30] [Cited by in F6Publishing: 29] [Article Influence: 3.8] [Reference Citation Analysis]
156 Menezes MJ, Riley LG, Christodoulou J. Mitochondrial respiratory chain disorders in childhood: Insights into diagnosis and management in the new era of genomic medicine. Biochimica et Biophysica Acta (BBA) - General Subjects 2014;1840:1368-79. [DOI: 10.1016/j.bbagen.2013.12.025] [Cited by in Crossref: 26] [Cited by in F6Publishing: 22] [Article Influence: 3.3] [Reference Citation Analysis]
157 Inaoka K, Inokawa Y, Nomoto S. Genomic-Wide Analysis with Microarrays in Human Oncology. Microarrays (Basel) 2015;4:454-73. [PMID: 27600234 DOI: 10.3390/microarrays4040454] [Cited by in Crossref: 9] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
158 Maghool S, Cooray NDG, Stroud DA, Aragão D, Ryan MT, Maher MJ. Structural and functional characterization of the mitochondrial complex IV assembly factor Coa6. Life Sci Alliance 2019;2:e201900458. [PMID: 31515291 DOI: 10.26508/lsa.201900458] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 2.7] [Reference Citation Analysis]
159 Santacatterina F, Torresano L, Núñez-salgado A, Esparza-molto PB, Olive M, Gallardo E, García-arumi E, Blazquez A, González-quintana A, Martín MA, Cuezva JM. Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress. Free Radical Biology and Medicine 2018;126:235-48. [DOI: 10.1016/j.freeradbiomed.2018.08.020] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
160 Wang B, Du Z, Shan G, Yan C, Zhang VW, Li Z. Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene. Front Pediatr 2021;9:639687. [PMID: 34164355 DOI: 10.3389/fped.2021.639687] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
161 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. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA 2014;312:68-77. [PMID: 25058219 DOI: 10.1001/jama.2014.7184] [Cited by in Crossref: 217] [Cited by in F6Publishing: 201] [Article Influence: 27.1] [Reference Citation Analysis]
162 Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H, Uemura K, Takahashi R, Matsumoto N, Yamamoto T. The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations. J Hum Genet 2016;61:899-902. [PMID: 27251004 DOI: 10.1038/jhg.2016.64] [Cited by in Crossref: 25] [Cited by in F6Publishing: 22] [Article Influence: 4.2] [Reference Citation Analysis]
163 Franco LVR, Bremner L, Barros MH. Human Mitochondrial Pathologies of the Respiratory Chain and ATP Synthase: Contributions from Studies of Saccharomyces cerevisiae. Life (Basel) 2020;10:E304. [PMID: 33238568 DOI: 10.3390/life10110304] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
164 Jiang H, Yu Z, Ding N, Yang M, Zhang L, Fan X, Zhou Y, Zou Q, Hou J, Zheng J, Zhang L, Xu Y, Liu J. The role of AGK in thrombocytopoiesis and possible therapeutic strategies. Blood 2020;136:119-29. [PMID: 32202634 DOI: 10.1182/blood.2019003851] [Cited by in Crossref: 3] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
165 Ruiz-Pesini E, Montoya J, Pacheu-Grau D. Molecular Insights into Mitochondrial Protein Translocation and Human Disease. Genes (Basel) 2021;12:1031. [PMID: 34356047 DOI: 10.3390/genes12071031] [Reference Citation Analysis]
166 Yang H, Zheng Z, Cai H, Li H, Ye X, Zhang X, Wang Z, Fu Q. Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus. Hum Genet 2016;135:1181-9. [DOI: 10.1007/s00439-016-1701-7] [Cited by in Crossref: 12] [Cited by in F6Publishing: 13] [Article Influence: 2.0] [Reference Citation Analysis]
167 Jou C, Ortigoza-Escobar JD, O'Callaghan MM, Nascimento A, Darling A, Pias-Peleteiro L, Perez-Dueñas B, Pineda M, Codina A, Arjona C, Armstrong J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya J, Yubero D, Artuch R. Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease. J Clin Med 2019;8:E68. [PMID: 30634555 DOI: 10.3390/jcm8010068] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
168 Aldahmesh MA, Khan AO, Mohamed JY, Hijazi H, Al-Owain M, Alswaid A, Alkuraya FS. Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes. Genet Med 2012;14:955-62. [PMID: 22935719 DOI: 10.1038/gim.2012.86] [Cited by in Crossref: 31] [Cited by in F6Publishing: 30] [Article Influence: 3.1] [Reference Citation Analysis]
169 Lu G, Peng Q, Wu L, Zhang J, Ma L. Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing. BMC Med Genomics 2021;14:270. [PMID: 34775996 DOI: 10.1186/s12920-021-01119-2] [Reference Citation Analysis]
170 Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus. Med (N Y) 2021;2:49-73. [PMID: 33575671 DOI: 10.1016/j.medj.2020.06.004] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
171 Rath S, Sharma R, Gupta R, Ast T, Chan C, Durham TJ, Goodman RP, Grabarek Z, Haas ME, Hung WHW, Joshi PR, Jourdain AA, Kim SH, Kotrys AV, Lam SS, McCoy JG, Meisel JD, Miranda M, Panda A, Patgiri A, Rogers R, Sadre S, Shah H, Skinner OS, To TL, Walker MA, Wang H, Ward PS, Wengrod J, Yuan CC, Calvo SE, Mootha VK. MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations. Nucleic Acids Res 2021;49:D1541-7. [PMID: 33174596 DOI: 10.1093/nar/gkaa1011] [Cited by in Crossref: 59] [Cited by in F6Publishing: 56] [Article Influence: 59.0] [Reference Citation Analysis]
172 Lim BC, Lee S, Shin JY, Hwang H, Kim KJ, Hwang YS, Seo JS, Kim JI, Chae JH. Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology. Neuromuscul Disord 2013;23:337-44. [PMID: 23453855 DOI: 10.1016/j.nmd.2013.01.007] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 1.3] [Reference Citation Analysis]
173 Molleston JP, Sokol RJ, Karnsakul W, Miethke A, Horslen S, Magee JC, Romero R, Squires RH, Van Hove JL. Evaluation of the child with suspected mitochondrial liver disease. J Pediatr Gastroenterol Nutr. 2013;57:269-276. [PMID: 23783016 DOI: 10.1097/mpg.0b013e31829ef67a] [Cited by in Crossref: 29] [Cited by in F6Publishing: 8] [Article Influence: 3.6] [Reference Citation Analysis]
174 Sommerville EW, Zhou XL, Oláhová M, Jenkins J, Euro L, Konovalova S, Hilander T, Pyle A, He L, Habeebu S, Saunders C, Kelsey A, Morris AAM, McFarland R, Suomalainen A, Gorman GS, Wang ED, Thiffault I, Tyynismaa H, Taylor RW. Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy. Hum Mol Genet 2019;28:258-68. [PMID: 30285085 DOI: 10.1093/hmg/ddy294] [Cited by in Crossref: 6] [Cited by in F6Publishing: 9] [Article Influence: 2.0] [Reference Citation Analysis]
175 Hakim A, Zhang X, DeLisle A, Oral EA, Dykas D, Drzewiecki K, Assis DN, Silveira M, Batisti J, Jain D, Bale A, Mistry PK, Vilarinho S. Clinical utility of genomic analysis in adults with idiopathic liver disease. J Hepatol 2019;70:1214-21. [PMID: 31000363 DOI: 10.1016/j.jhep.2019.01.036] [Cited by in Crossref: 15] [Cited by in F6Publishing: 17] [Article Influence: 5.0] [Reference Citation Analysis]
176 Zheng Z, Geng J, Yao R, Li C, Ying D, Shen Y, Ying L, Yu Y, Fu Q. Molecular defects identified by whole exome sequencing in a child with Fanconi anemia. Gene 2013;530:295-300. [DOI: 10.1016/j.gene.2013.08.031] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 1.4] [Reference Citation Analysis]
177 McKiernan P, Ball S, Santra S, Foster K, Fratter C, Poulton J, Craig K, McFarland R, Rahman S, Hargreaves I, Gupte G, Sharif K, Taylor RW. Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. J Pediatr Gastroenterol Nutr 2016;63:592-7. [PMID: 27482763 DOI: 10.1097/MPG.0000000000001345] [Cited by in Crossref: 27] [Cited by in F6Publishing: 6] [Article Influence: 5.4] [Reference Citation Analysis]
178 Levy MA, Kerkhof J, Belmonte FR, Kaufman BA, Bhai P, Brady L, Bursztyn LLCD, Tarnopolsky M, Rupar T, Sadikovic B. Validation and clinical performance of a combined nuclear-mitochondrial next-generation sequencing and copy number variant analysis panel in a Canadian population. Am J Med Genet A 2021;185:486-99. [PMID: 33300680 DOI: 10.1002/ajmg.a.61998] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
179 Goldstein AC, Bhatia P, Vento JM. Mitochondrial disease in childhood: nuclear encoded. Neurotherapeutics 2013;10:212-26. [PMID: 23516041 DOI: 10.1007/s13311-013-0185-6] [Cited by in Crossref: 27] [Cited by in F6Publishing: 19] [Article Influence: 3.0] [Reference Citation Analysis]
180 Castrillo JI, Pir P, Oliver SG. Yeast Systems Biology. Handbook of Systems Biology. Elsevier; 2013. pp. 343-65. [DOI: 10.1016/b978-0-12-385944-0.00018-6] [Cited by in Crossref: 6] [Article Influence: 0.7] [Reference Citation Analysis]
181 Kang Y, Stroud DA, Baker MJ, De Souza DP, Frazier AE, Liem M, Tull D, Mathivanan S, Mcconville MJ, Thorburn DR, Ryan MT, Stojanovski D. Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex. Molecular Cell 2017;67:457-470.e5. [DOI: 10.1016/j.molcel.2017.06.014] [Cited by in Crossref: 63] [Cited by in F6Publishing: 58] [Article Influence: 12.6] [Reference Citation Analysis]
182 Wang F, Zhang D, Zhang D, Li P, Gao Y. Mitochondrial Protein Translation: Emerging Roles and Clinical Significance in Disease. Front Cell Dev Biol 2021;9:675465. [PMID: 34277617 DOI: 10.3389/fcell.2021.675465] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
183 Yuan C, Yuan M, Chen M, Ouyang J, Tan W, Dai F, Yang D, Liu S, Zheng Y, Zhou C, Cheng Y. Prognostic Implication of a Novel Metabolism-Related Gene Signature in Hepatocellular Carcinoma. Front Oncol 2021;11:666199. [PMID: 34150630 DOI: 10.3389/fonc.2021.666199] [Reference Citation Analysis]
184 Komen JC, Thorburn DR. Turn up the power - pharmacological activation of mitochondrial biogenesis in mouse models. Br J Pharmacol 2014;171:1818-36. [PMID: 24102298 DOI: 10.1111/bph.12413] [Cited by in Crossref: 83] [Cited by in F6Publishing: 79] [Article Influence: 10.4] [Reference Citation Analysis]
185 Brito S, Thompson K, Campistol J, Colomer J, Hardy SA, He L, Fernández-Marmiesse A, Palacios L, Jou C, Jiménez-Mallebrera C, Armstrong J, Montero R, Artuch R, Tischner C, Wenz T, McFarland R, Taylor RW. Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations. Front Genet 2015;6:102. [PMID: 25852744 DOI: 10.3389/fgene.2015.00102] [Cited by in Crossref: 2] [Cited by in F6Publishing: 9] [Article Influence: 0.3] [Reference Citation Analysis]
186 Dinwiddie DL, Smith LD, Miller NA, Atherton AM, Farrow EG, Strenk ME, Soden SE, Saunders CJ, Kingsmore SF. Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. Genomics 2013;102:148-56. [PMID: 23631824 DOI: 10.1016/j.ygeno.2013.04.013] [Cited by in Crossref: 56] [Cited by in F6Publishing: 49] [Article Influence: 6.2] [Reference Citation Analysis]
187 Bertero E, Kutschka I, Maack C, Dudek J. Cardiolipin remodeling in Barth syndrome and other hereditary cardiomyopathies. Biochim Biophys Acta Mol Basis Dis 2020;1866:165803. [PMID: 32348916 DOI: 10.1016/j.bbadis.2020.165803] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 2.5] [Reference Citation Analysis]
188 Li X, Peng B, Hou C, Li J, Zeng Y, Wu W, Liao Y, Tian Y, Chen WX. Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report. BMC Med Genet 2020;21:217. [PMID: 33153448 DOI: 10.1186/s12881-020-01149-0] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
189 Sivakumaran TA, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH Jr, Zhang K. Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss. Otolaryngol Head Neck Surg 2013;148:1007-16. [PMID: 23525850 DOI: 10.1177/0194599813482294] [Cited by in Crossref: 29] [Cited by in F6Publishing: 24] [Article Influence: 3.2] [Reference Citation Analysis]
190 Isik E, Onay H, Atik T, Canda E, Cogulu O, Coker M, Ozkinay F. Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases. European Journal of Medical Genetics 2019;62:103725. [DOI: 10.1016/j.ejmg.2019.103725] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
191 Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, Martinelli D, Montanari A, Guo Y, Rizza T, Diodato D, Di Nottia M, Lucarelli B, Sorrentino F, Piemonte F, Francisci S, Tartaglia M, Valente E, Dionisi‐vici C, Christodoulou J, Bertini E, Carrozzo R. A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Clin Genet 2016;91:441-7. [DOI: 10.1111/cge.12790] [Cited by in Crossref: 15] [Cited by in F6Publishing: 14] [Article Influence: 2.5] [Reference Citation Analysis]
192 Shen L, McCormick EM, Muraresku CC, Falk MJ, Gai X. Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease. Clin Lab Med 2020;40:149-61. [PMID: 32439066 DOI: 10.1016/j.cll.2020.02.002] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
193 Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ. FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet 2017;91:634-9. [PMID: 27743463 DOI: 10.1111/cge.12894] [Cited by in Crossref: 8] [Cited by in F6Publishing: 9] [Article Influence: 1.6] [Reference Citation Analysis]
194 Szpisjak L, Zsindely N, Engelhardt JI, Vecsei L, Kovacs GG, Klivenyi P. Novel AARS2 gene mutation producing leukodystrophy: a case report. J Hum Genet 2017;62:329-33. [PMID: 27734837 DOI: 10.1038/jhg.2016.126] [Cited by in Crossref: 23] [Cited by in F6Publishing: 22] [Article Influence: 3.8] [Reference Citation Analysis]
195 Clarke C, Xiao R, Place E, Zhang Z, Sondheimer N, Bennett M, Yudkoff M, Falk MJ. Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites. Mol Genet Metab 2013;110:145-52. [PMID: 23920046 DOI: 10.1016/j.ymgme.2013.07.011] [Cited by in Crossref: 22] [Cited by in F6Publishing: 25] [Article Influence: 2.4] [Reference Citation Analysis]
196 Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J. SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain 2013;136:3634-44. [PMID: 24176978 DOI: 10.1093/brain/awt283] [Cited by in Crossref: 53] [Cited by in F6Publishing: 46] [Article Influence: 5.9] [Reference Citation Analysis]
197 Zanfardino P, Doccini S, Santorelli FM, Petruzzella V. Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain. Int J Mol Sci 2021;22:8325. [PMID: 34361091 DOI: 10.3390/ijms22158325] [Reference Citation Analysis]
198 Damas J, Samuels DC, Carneiro J, Amorim A, Pereira F. Mitochondrial DNA rearrangements in health and disease--a comprehensive study. Hum Mutat 2014;35:1-14. [PMID: 24115352 DOI: 10.1002/humu.22452] [Cited by in Crossref: 54] [Cited by in F6Publishing: 48] [Article Influence: 6.0] [Reference Citation Analysis]
199 Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum Genet 2017;101:239-54. [PMID: 28777931 DOI: 10.1016/j.ajhg.2017.07.005] [Cited by in Crossref: 47] [Cited by in F6Publishing: 45] [Article Influence: 9.4] [Reference Citation Analysis]
200 Lim SC, Friemel M, Marum JE, Tucker EJ, Bruno DL, Riley LG, Christodoulou J, Kirk EP, Boneh A, DeGennaro CM, Springer M, Mootha VK, Rouault TA, Leimkühler S, Thorburn DR, Compton AG. Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes. Hum Mol Genet 2013;22:4460-73. [PMID: 23814038 DOI: 10.1093/hmg/ddt295] [Cited by in Crossref: 69] [Cited by in F6Publishing: 68] [Article Influence: 7.7] [Reference Citation Analysis]
201 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. Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat 2013;34:882-93. [PMID: 23463613 DOI: 10.1002/humu.22307] [Cited by in Crossref: 64] [Cited by in F6Publishing: 60] [Article Influence: 7.1] [Reference Citation Analysis]
202 Fang F, Liu Z, Fang H, Wu J, Shen D, Sun S, Ding C, Han T, Wu Y, Lv J, Yang L, Li S, Lv J, Shen Y. The clinical and genetic characteristics in children with mitochondrial disease in China. Sci China Life Sci 2017;60:746-57. [PMID: 28639102 DOI: 10.1007/s11427-017-9080-y] [Cited by in Crossref: 17] [Cited by in F6Publishing: 17] [Article Influence: 3.4] [Reference Citation Analysis]
203 Theunissen TEJ, Nguyen M, Kamps R, Hendrickx AT, Sallevelt SCEH, Gottschalk RWH, Calis CM, Stassen APM, de Koning B, Mulder-Den Hartog ENM, Schoonderwoerd K, Fuchs SA, Hilhorst-Hofstee Y, de Visser M, Vanoevelen J, Szklarczyk R, Gerards M, de Coo IFM, Hellebrekers DMEI, Smeets HJM. Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause. Front Genet 2018;9:400. [PMID: 30369941 DOI: 10.3389/fgene.2018.00400] [Cited by in Crossref: 33] [Cited by in F6Publishing: 30] [Article Influence: 8.3] [Reference Citation Analysis]
204 Yin C, Liu Y, Guo X, Li D, Fang W, Yang J, Zhou F, Niu W, Jia Y, Yang H, Xing J. An Effective Strategy to Eliminate Inherent Cross-Contamination in mtDNA Next-Generation Sequencing of Multiple Samples. J Mol Diagn 2019;21:593-601. [PMID: 31026598 DOI: 10.1016/j.jmoldx.2019.02.006] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 2.3] [Reference Citation Analysis]
205 Vidali S, Gerlini R, Thompson K, Urquhart JE, Meisterknecht J, Aguilar-Pimentel JA, Amarie OV, Becker L, Breen C, Calzada-Wack J, Chhabra NF, Cho YL, da Silva-Buttkus P, Feichtinger RG, Gampe K, Garrett L, Hoefig KP, Hölter SM, Jameson E, Klein-Rodewald T, Leuchtenberger S, Marschall S, Mayer-Kuckuk P, Miller G, Oestereicher MA, Pfannes K, Rathkolb B, Rozman J, Sanders C, Spielmann N, Stoeger C, Szibor M, Treise I, Walter JH, Wurst W, Mayr JA, Fuchs H, Gärtner U, Wittig I, Taylor RW, Newman WG, Prokisch H, Gailus-Durner V, Hrabě de Angelis M. Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes. EMBO Mol Med 2021;:e14397. [PMID: 34750991 DOI: 10.15252/emmm.202114397] [Reference Citation Analysis]
206 Bai R, Higgs JD. Mitochondrial Disorders. In: Leonard DG, editor. Molecular Pathology in Clinical Practice. Cham: Springer International Publishing; 2016. pp. 139-59. [DOI: 10.1007/978-3-319-19674-9_10] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
207 Li Y, Wen S, Li D, Xie J, Wei X, Li X, Liu Y, Fang H, Yang Y, Lyu J. SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences. Gene 2018;674:15-24. [DOI: 10.1016/j.gene.2018.06.058] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 2.0] [Reference Citation Analysis]
208 Calvo SE, Clauser KR, Mootha VK. MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins. Nucleic Acids Res 2016;44:D1251-7. [PMID: 26450961 DOI: 10.1093/nar/gkv1003] [Cited by in Crossref: 845] [Cited by in F6Publishing: 742] [Article Influence: 120.7] [Reference Citation Analysis]
209 Modjtahedi N, Tokatlidis K, Dessen P, Kroemer G. Mitochondrial Proteins Containing Coiled-Coil-Helix-Coiled-Coil-Helix (CHCH) Domains in Health and Disease. Trends Biochem Sci 2016;41:245-60. [PMID: 26782138 DOI: 10.1016/j.tibs.2015.12.004] [Cited by in Crossref: 58] [Cited by in F6Publishing: 56] [Article Influence: 9.7] [Reference Citation Analysis]
210 Palmer CS, Anderson AJ, Stojanovski D. Mitochondrial protein import dysfunction: mitochondrial disease, neurodegenerative disease and cancer. FEBS Lett 2021;595:1107-31. [PMID: 33314127 DOI: 10.1002/1873-3468.14022] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 5.0] [Reference Citation Analysis]
211 Rahman S. Mitochondrial disease in children. J Intern Med 2020;287:609-33. [PMID: 32176382 DOI: 10.1111/joim.13054] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 7.5] [Reference Citation Analysis]
212 Andrews B, Carroll J, Ding S, Fearnley IM, Walker JE. Assembly factors for the membrane arm of human complex I. Proc Natl Acad Sci U S A 2013;110:18934-9. [PMID: 24191001 DOI: 10.1073/pnas.1319247110] [Cited by in Crossref: 96] [Cited by in F6Publishing: 93] [Article Influence: 10.7] [Reference Citation Analysis]
213 Rhein VF, Carroll J, Ding S, Fearnley IM, Walker JE. NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I. J Biol Chem 2013;288:33016-26. [PMID: 24089531 DOI: 10.1074/jbc.M113.518803] [Cited by in Crossref: 68] [Cited by in F6Publishing: 36] [Article Influence: 7.6] [Reference Citation Analysis]
214 Muers M. Sequencing for diagnosis. Nat Rev Genet 2012;13:150-150. [DOI: 10.1038/nrg3176] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
215 Lu YW, Claypool SM. Disorders of phospholipid metabolism: an emerging class of mitochondrial disease due to defects in nuclear genes. Front Genet 2015;6:3. [PMID: 25691889 DOI: 10.3389/fgene.2015.00003] [Cited by in Crossref: 82] [Cited by in F6Publishing: 78] [Article Influence: 11.7] [Reference Citation Analysis]
216 Fernandez-Marmiesse A, Gouveia S, Couce ML. NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment. Curr Med Chem 2018;25:404-32. [PMID: 28721829 DOI: 10.2174/0929867324666170718101946] [Cited by in Crossref: 56] [Cited by in F6Publishing: 49] [Article Influence: 14.0] [Reference Citation Analysis]
217 Morey M, Fernández-marmiesse A, Castiñeiras D, Fraga JM, Couce ML, Cocho JA. A glimpse into past, present, and future DNA sequencing. Molecular Genetics and Metabolism 2013;110:3-24. [DOI: 10.1016/j.ymgme.2013.04.024] [Cited by in Crossref: 86] [Cited by in F6Publishing: 62] [Article Influence: 9.6] [Reference Citation Analysis]
218 Shehata BM, Cundiff CA, Lee K, Sabharwal A, Lalwani MK, Davis AK, Agrawal V, Sivasubbu S, Iannucci GJ, Gibson G. Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy. Am J Med Genet A 2015;167A:2114-21. [PMID: 25921236 DOI: 10.1002/ajmg.a.37138] [Cited by in Crossref: 25] [Cited by in F6Publishing: 17] [Article Influence: 3.6] [Reference Citation Analysis]
219 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. New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies. Biochim Biophys Acta 2016;1857:1326-35. [PMID: 26968897 DOI: 10.1016/j.bbabio.2016.02.022] [Cited by in Crossref: 58] [Cited by in F6Publishing: 60] [Article Influence: 9.7] [Reference Citation Analysis]
220 Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. Am J Hum Genet 2016;99:217-27. [PMID: 27374774 DOI: 10.1016/j.ajhg.2016.05.021] [Cited by in Crossref: 43] [Cited by in F6Publishing: 37] [Article Influence: 7.2] [Reference Citation Analysis]
221 Lu Y, Zhou X, Jin Z, Cheng J, Shen W, Ji F, Liu L, Zhang X, Zhang M, Cao Y, Han D, Choy K, Yuan H. Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches. J Hum Genet 2014;59:599-607. [PMID: 25231367 DOI: 10.1038/jhg.2014.78] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 1.3] [Reference Citation Analysis]
222 Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Orphanet J Rare Dis 2018;13:120. [PMID: 30025539 DOI: 10.1186/s13023-018-0784-8] [Cited by in Crossref: 33] [Cited by in F6Publishing: 20] [Article Influence: 8.3] [Reference Citation Analysis]
223 Wei X, Du M, Xie J, Luo T, Zhou Y, Zhang K, Li J, Chen D, Xu P, Jia M, Zhou H, Fang H, Lyu J, Yang Y. Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay. J Hum Genet 2020;65:231-40. [PMID: 31907385 DOI: 10.1038/s10038-019-0714-1] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 3.5] [Reference Citation Analysis]
224 Molina‐berenguer M, Vila‐julià F, Pérez‐ramos S, Salcedo‐allende MT, Cámara Y, Torres‐torronteras J, Martí R. Dysfunctional mitochondrial translation and combined oxidative phosphorylation deficiency in a mouse model of hepatoencephalopathy due to Gfm1 mutations. The FASEB Journal 2022;36. [DOI: 10.1096/fj.202100819rrr] [Reference Citation Analysis]
225 Correia SP, Moedas MF, Naess K, Bruhn H, Maffezzini C, Calvo-Garrido J, Lesko N, Wibom R, Schober FA, Jemt A, Stranneheim H, Freyer C, Wedell A, Wredenberg A. Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7. Hum Mutat 2021;42:378-84. [PMID: 33502047 DOI: 10.1002/humu.24173] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
226 Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, Hussain M, Phillips AD, Cooper DN. The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet. 2017;136:665-677. [PMID: 28349240 DOI: 10.1007/s00439-017-1779-6] [Cited by in Crossref: 708] [Cited by in F6Publishing: 589] [Article Influence: 141.6] [Reference Citation Analysis]
227 Barcia G, Rio M, Assouline Z, Zangarelli C, Gueguen N, Dumas VD, Marcorelles P, Schiff M, Slama A, Barth M, Hully M, de Lonlay P, Munnich A, Desguerre I, Bonnefont JP, Steffann J, Procaccio V, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B. Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations. Hum Mutat 2020;41:397-402. [PMID: 31680380 DOI: 10.1002/humu.23937] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
228 Perli E, Pisano A, Glasgow RIC, Carbo M, Hardy SA, Falkous G, He L, Cerbelli B, Pignataro MG, Zacara E, Re F, Della Monica PL, Morea V, Bonnen PE, Taylor RW, d'Amati G, Giordano C. Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement. Sci Rep 2019;9:5108. [PMID: 30911037 DOI: 10.1038/s41598-019-41483-9] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 2.7] [Reference Citation Analysis]
229 Allali S, Dorboz I, Samaan S, Slama A, Rambaud C, Boespflug-Tanguy O, Sarret C. Mutation in the AGK gene in two siblings with unusual Sengers syndrome. Metab Brain Dis 2017;32:2149-54. [PMID: 28868593 DOI: 10.1007/s11011-017-0101-6] [Cited by in Crossref: 7] [Cited by in F6Publishing: 8] [Article Influence: 1.4] [Reference Citation Analysis]
230 Du M, Wei X, Xu P, Xie A, Zhou X, Yang Y, Li D, Lyu J, Fang H. A novel mitochondrial m.14430A>G (MT-ND6, p.W82R) variant causes complex I deficiency and mitochondrial Leigh syndrome. Clin Chem Lab Med 2020;58:1809-17. [PMID: 32432562 DOI: 10.1515/cclm-2020-0150] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
231 Kim H, Jebrail MJ, Sinha A, Bent ZW, Solberg OD, Williams KP, Langevin SA, Renzi RF, Van De Vreugde JL, Meagher RJ, Schoeniger JS, Lane TW, Branda SS, Bartsch MS, Patel KD. A microfluidic DNA library preparation platform for next-generation sequencing. PLoS One 2013;8:e68988. [PMID: 23894387 DOI: 10.1371/journal.pone.0068988] [Cited by in Crossref: 46] [Cited by in F6Publishing: 36] [Article Influence: 5.1] [Reference Citation Analysis]
232 Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O'Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW. A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. J Med Genet 2016;53:634-41. [PMID: 27091925 DOI: 10.1136/jmedgenet-2015-103576] [Cited by in Crossref: 15] [Cited by in F6Publishing: 18] [Article Influence: 2.5] [Reference Citation Analysis]
233 Chen D, Zhao Q, Xiong J, Lou X, Han Q, Wei X, Xie J, Li X, Zhou H, Shen L, Yang Y, Fang H, Lyu J. Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency. Mol Genet Genomic Med 2020;8:e1199. [PMID: 32162843 DOI: 10.1002/mgg3.1199] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
234 Ghosh A, Trivedi PP, Timbalia SA, Griffin AT, Rahn JJ, Chan SS, Gohil VM. Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency. Hum Mol Genet 2014;23:3596-606. [PMID: 24549041 DOI: 10.1093/hmg/ddu069] [Cited by in Crossref: 70] [Cited by in F6Publishing: 65] [Article Influence: 8.8] [Reference Citation Analysis]
235 Rodríguez-garcía ME, Cotrina-vinagre FJ, Cruz-rojo J, Garzón-lorenzo L, Carnicero-rodríguez P, Pozo JS, Martínez-azorín F. A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24. Am J Med Genet 2018;176:2479-86. [DOI: 10.1002/ajmg.a.40496] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.8] [Reference Citation Analysis]
236 Pyle A, Nightingale HJ, Griffin H, Abicht A, Kirschner J, Baric I, Cuk M, Douroudis K, Feder L, Kratz M, Czermin B, Kleinle S, Santibanez-Koref M, Karcagi V, Holinski-Feder E, Chinnery PF, Horvath R. Respiratory chain deficiency in nonmitochondrial disease. Neurol Genet 2015;1:e6. [PMID: 27066545 DOI: 10.1212/NXG.0000000000000006] [Cited by in Crossref: 15] [Cited by in F6Publishing: 5] [Article Influence: 2.1] [Reference Citation Analysis]
237 Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR. A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome. Am J Hum Genet 2014;94:209-22. [PMID: 24462369 DOI: 10.1016/j.ajhg.2013.12.015] [Cited by in Crossref: 43] [Cited by in F6Publishing: 39] [Article Influence: 5.4] [Reference Citation Analysis]
238 Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW. Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. PLoS Genet 2014;10:e1004424. [PMID: 24901367 DOI: 10.1371/journal.pgen.1004424] [Cited by in Crossref: 85] [Cited by in F6Publishing: 79] [Article Influence: 10.6] [Reference Citation Analysis]
239 Nunnari J, Suomalainen A. Mitochondria: in sickness and in health. Cell 2012;148:1145-59. [PMID: 22424226 DOI: 10.1016/j.cell.2012.02.035] [Cited by in Crossref: 1455] [Cited by in F6Publishing: 1395] [Article Influence: 145.5] [Reference Citation Analysis]
240 Fernández-Vizarra E, Zeviani M. Nuclear gene mutations as the cause of mitochondrial complex III deficiency. Front Genet 2015;6:134. [PMID: 25914718 DOI: 10.3389/fgene.2015.00134] [Cited by in Crossref: 75] [Cited by in F6Publishing: 68] [Article Influence: 10.7] [Reference Citation Analysis]
241 Hock DH, Robinson DRL, Stroud DA. Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome. Biochem J 2020;477:4085-132. [PMID: 33151299 DOI: 10.1042/BCJ20190767] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 6.0] [Reference Citation Analysis]
242 Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H. AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. JIMD Rep 2014;14:77-85. [PMID: 24515575 DOI: 10.1007/8904_2013_287] [Cited by in Crossref: 30] [Cited by in F6Publishing: 33] [Article Influence: 3.8] [Reference Citation Analysis]
243 Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou C, Nascimento A, Ortez C, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW. OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect. EMBO Mol Med 2018;10:e9060. [PMID: 30201738 DOI: 10.15252/emmm.201809060] [Cited by in Crossref: 26] [Cited by in F6Publishing: 25] [Article Influence: 8.7] [Reference Citation Analysis]
244 Stenton SL, Prokisch H. Genetics of mitochondrial diseases: Identifying mutations to help diagnosis. EBioMedicine 2020;56:102784. [PMID: 32454403 DOI: 10.1016/j.ebiom.2020.102784] [Cited by in Crossref: 37] [Cited by in F6Publishing: 32] [Article Influence: 18.5] [Reference Citation Analysis]
245 Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, Beheshtian M, Zamani G, Nafissi S, Nilipour Y, Akbari M, Kahrizi K, Kariminejad A, Najmabadi H. Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population. Clin Genet 2016;91:386-402. [DOI: 10.1111/cge.12810] [Cited by in Crossref: 24] [Cited by in F6Publishing: 23] [Article Influence: 4.0] [Reference Citation Analysis]
246 van Riesen AK, Biskup S, Kühn AA, Kaindl AM, van Riesen C. Novel Mutation in the TSFM Gene Causes an Early-Onset Complex Chorea without Basal Ganglia Lesions. Mov Disord Clin Pract 2021;8:453-5. [PMID: 33816677 DOI: 10.1002/mdc3.13144] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
247 Wong LC. Biochemical and Molecular Methods for the Study of Mitochondrial Disorders. In: Wong LC, editor. Mitochondrial Disorders Caused by Nuclear Genes. New York: Springer; 2013. pp. 27-45. [DOI: 10.1007/978-1-4614-3722-2_2] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
248 Giménez-Dejoz J, Kolář MH, Ruiz FX, Crespo I, Cousido-Siah A, Podjarny A, Barski OA, Fanfrlík J, Parés X, Farrés J, Porté S. Substrate Specificity, Inhibitor Selectivity and Structure-Function Relationships of Aldo-Keto Reductase 1B15: A Novel Human Retinaldehyde Reductase. PLoS One 2015;10:e0134506. [PMID: 26222439 DOI: 10.1371/journal.pone.0134506] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 1.6] [Reference Citation Analysis]
249 Xu B, Li X, Du M, Zhou C, Fang H, Lyu J, Yang Y. Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome. J Hum Genet 2017;62:291-7. [PMID: 27761019 DOI: 10.1038/jhg.2016.127] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 1.8] [Reference Citation Analysis]
250 Torraco A, Ardissone A, Invernizzi F, Rizza T, Fiermonte G, Niceta M, Zanetti N, Martinelli D, Vozza A, Verrigni D, Di Nottia M, Lamantea E, Diodato D, Tartaglia M, Dionisi-Vici C, Moroni I, Farina L, Bertini E, Ghezzi D, Carrozzo R. Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes. J Neurol 2017;264:102-11. [PMID: 27785568 DOI: 10.1007/s00415-016-8312-z] [Cited by in Crossref: 21] [Cited by in F6Publishing: 20] [Article Influence: 3.5] [Reference Citation Analysis]
251 Maghool S, Ryan MT, Maher MJ. What Role Does COA6 Play in Cytochrome C Oxidase Biogenesis: A Metallochaperone or Thiol Oxidoreductase, or Both? Int J Mol Sci 2020;21:E6983. [PMID: 32977416 DOI: 10.3390/ijms21196983] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
252 Plutino M, Chaussenot A, Rouzier C, Ait-El-Mkadem S, Fragaki K, Paquis-Flucklinger V, Bannwarth S. Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases. BMC Med Genet 2018;19:57. [PMID: 29625556 DOI: 10.1186/s12881-018-0568-y] [Cited by in Crossref: 13] [Cited by in F6Publishing: 9] [Article Influence: 3.3] [Reference Citation Analysis]
253 Euro L, Konovalova S, Asin-Cayuela J, Tulinius M, Griffin H, Horvath R, Taylor RW, Chinnery PF, Schara U, Thorburn DR, Suomalainen A, Chihade J, Tyynismaa H. Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation. Front Genet 2015;6:21. [PMID: 25705216 DOI: 10.3389/fgene.2015.00021] [Cited by in Crossref: 34] [Cited by in F6Publishing: 31] [Article Influence: 4.9] [Reference Citation Analysis]
254 Liang C, Ahmad K, Sue CM. The broadening spectrum of mitochondrial disease: shifts in the diagnostic paradigm. Biochim Biophys Acta 2014;1840:1360-7. [PMID: 24239706 DOI: 10.1016/j.bbagen.2013.10.040] [Cited by in Crossref: 31] [Cited by in F6Publishing: 26] [Article Influence: 3.4] [Reference Citation Analysis]
255 Emperador S, Bayona-Bafaluy MP, Fernández-Marmiesse A, Pineda M, Felgueroso B, López-Gallardo E, Artuch R, Roca I, Ruiz-Pesini E, Couce ML, Montoya J. Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy. Eur J Hum Genet 2016;25:153-6. [PMID: 27677415 DOI: 10.1038/ejhg.2016.124] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 2.2] [Reference Citation Analysis]
256 Lim A, Thomas RH. The mitochondrial epilepsies. European Journal of Paediatric Neurology 2020;24:47-52. [DOI: 10.1016/j.ejpn.2019.12.021] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 4.0] [Reference Citation Analysis]
257 Pesole G, Allen JF, Lane N, Martin W, Rand DM, Schatz G, Saccone C. The neglected genome. EMBO Rep 2012;13:473-4. [PMID: 22555611 DOI: 10.1038/embor.2012.57] [Cited by in Crossref: 36] [Cited by in F6Publishing: 29] [Article Influence: 3.6] [Reference Citation Analysis]
258 Bozan M, Akyol Ç, Ince O, Aydin S, Ince B. Application of next-generation sequencing methods for microbial monitoring of anaerobic digestion of lignocellulosic biomass. Appl Microbiol Biotechnol 2017;101:6849-64. [PMID: 28779289 DOI: 10.1007/s00253-017-8438-7] [Cited by in Crossref: 15] [Cited by in F6Publishing: 9] [Article Influence: 3.0] [Reference Citation Analysis]
259 Schaefer AM, Walker M, Turnbull DM, Taylor RW. Endocrine disorders in mitochondrial disease. Mol Cell Endocrinol 2013;379:2-11. [PMID: 23769710 DOI: 10.1016/j.mce.2013.06.004] [Cited by in Crossref: 49] [Cited by in F6Publishing: 47] [Article Influence: 5.4] [Reference Citation Analysis]
260 Pacheu-Grau D, Rucktäschel R, Deckers M. Mitochondrial dysfunction and its role in tissue-specific cellular stress. Cell Stress 2018;2:184-99. [PMID: 31225486 DOI: 10.15698/cst2018.07.147] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.8] [Reference Citation Analysis]
261 Platt J, Cox R, Enns GM. Points to consider in the clinical use of NGS panels for mitochondrial disease: an analysis of gene inclusion and consent forms. J Genet Couns 2014;23:594-603. [PMID: 24399097 DOI: 10.1007/s10897-013-9683-2] [Cited by in Crossref: 15] [Cited by in F6Publishing: 12] [Article Influence: 1.9] [Reference Citation Analysis]
262 Ankala A, Hegde MR. Gamut of Genetic Testing for Neonatal Care. Clinics in Perinatology 2015;42:217-26. [DOI: 10.1016/j.clp.2015.02.001] [Cited by in Crossref: 5] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
263 Jackson TD, Hock DH, Fujihara KM, Palmer CS, Frazier AE, Low YC, Kang Y, Ang CS, Clemons NJ, Thorburn DR, Stroud DA, Stojanovski D. The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism. Mol Biol Cell 2021;32:475-91. [PMID: 33476211 DOI: 10.1091/mbc.E20-06-0390] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
264 Fernandez-Vizarra E, Zeviani M. Mitochondrial disorders of the OXPHOS system. FEBS Lett 2021;595:1062-106. [PMID: 33159691 DOI: 10.1002/1873-3468.13995] [Cited by in Crossref: 8] [Cited by in F6Publishing: 10] [Article Influence: 4.0] [Reference Citation Analysis]
265 Gladyck S, Aras S, Hüttemann M, Grossman LI. Regulation of COX Assembly and Function by Twin CX9C Proteins-Implications for Human Disease. Cells 2021;10:197. [PMID: 33498264 DOI: 10.3390/cells10020197] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
266 Samuels ME, Hasselmann C, Deal CL, Deladoey J, Vliet GV. Whole-exome sequencing: opportunities in pediatric endocrinology. Per Med 2014;11:63-78. [PMID: 29751389 DOI: 10.2217/pme.13.96] [Cited by in Crossref: 2] [Article Influence: 0.3] [Reference Citation Analysis]
267 Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J. Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly. Hum Mol Genet 2017;26:702-16. [PMID: 28040730 DOI: 10.1093/hmg/ddw431] [Cited by in Crossref: 13] [Cited by in F6Publishing: 38] [Article Influence: 2.6] [Reference Citation Analysis]
268 Castrillo JI, Oliver SG. Alzheimer's as a Systems-Level Disease Involving the Interplay of Multiple Cellular Networks. Methods Mol Biol 2016;1303:3-48. [PMID: 26235058 DOI: 10.1007/978-1-4939-2627-5_1] [Cited by in Crossref: 21] [Cited by in F6Publishing: 19] [Article Influence: 3.5] [Reference Citation Analysis]
269 Mayr JA. Lipid metabolism in mitochondrial membranes. J Inherit Metab Dis 2015;38:137-44. [DOI: 10.1007/s10545-014-9748-x] [Cited by in Crossref: 33] [Cited by in F6Publishing: 33] [Article Influence: 4.1] [Reference Citation Analysis]
270 Abicht A, Scharf F, Kleinle S, Schön U, Holinski-Feder E, Horvath R, Benet-Pagès A, Diebold I. Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method. Mol Genet Genomic Med 2018;6:1188-98. [PMID: 30406974 DOI: 10.1002/mgg3.500] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 2.8] [Reference Citation Analysis]
271 Yu Y, Wu BL, Wu J, Shen Y. Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics. Clin Chem 2012;58:1507-9. [PMID: 23065473 DOI: 10.1373/clinchem.2012.193128] [Cited by in Crossref: 21] [Cited by in F6Publishing: 17] [Article Influence: 2.1] [Reference Citation Analysis]
272 Vondrackova A, Vesela K, Hansikova H, Docekalova DZ, Rozsypalova E, Zeman J, Tesarova M. High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency. J Hum Genet 2012;57:442-8. [PMID: 22592081 DOI: 10.1038/jhg.2012.49] [Cited by in Crossref: 13] [Cited by in F6Publishing: 12] [Article Influence: 1.3] [Reference Citation Analysis]
273 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. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. J Transl Med 2016;14:174. [PMID: 27290639 DOI: 10.1186/s12967-016-0930-9] [Cited by in Crossref: 108] [Cited by in F6Publishing: 103] [Article Influence: 18.0] [Reference Citation Analysis]
274 Nelo-Bazán MA, Latorre P, Bolado-Carrancio A, Pérez-Campo FM, Echenique-Robba P, Rodríguez-Rey JC, Carrodeguas JA. Early growth response 1 (EGR-1) is a transcriptional regulator of mitochondrial carrier homolog 1 (MTCH 1)/presenilin 1-associated protein (PSAP). Gene 2016;578:52-62. [PMID: 26692143 DOI: 10.1016/j.gene.2015.12.014] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.6] [Reference Citation Analysis]
275 Helman G, Compton AG, Hock DH, Walkiewicz M, Brett GR, Pais L, Tan TY, De Paoli-Iseppi R, Clark MB, Christodoulou J, White SM, Thorburn DR, Stroud DA, Stark Z, Simons C. Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10. Hum Mutat 2021;42:19-24. [PMID: 33169436 DOI: 10.1002/humu.24135] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
276 Giménez-Dejoz J, Weber S, Fernández-Pardo Á, Möller G, Adamski J, Porté S, Parés X, Farrés J. Engineering aldo-keto reductase 1B10 to mimic the distinct 1B15 topology and specificity towards inhibitors and substrates, including retinoids and steroids. Chem Biol Interact 2019;307:186-94. [PMID: 31028727 DOI: 10.1016/j.cbi.2019.04.030] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
277 Garone C, D'Souza AR, Dallabona C, Lodi T, Rebelo-Guiomar P, Rorbach J, Donati MA, Procopio E, Montomoli M, Guerrini R, Zeviani M, Calvo SE, Mootha VK, DiMauro S, Ferrero I, Minczuk M. Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. Hum Mol Genet 2017;26:4257-66. [PMID: 28973171 DOI: 10.1093/hmg/ddx314] [Cited by in Crossref: 42] [Cited by in F6Publishing: 34] [Article Influence: 10.5] [Reference Citation Analysis]
278 Valpadashi A, Callegari S, Linden A, Neumann P, Ficner R, Urlaub H, Deckers M, Rehling P. Defining the architecture of the human TIM22 complex by chemical crosslinking. FEBS Lett 2021;595:157-68. [PMID: 33125709 DOI: 10.1002/1873-3468.13978] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
279 Soma S, Morgada MN, Naik MT, Boulet A, Roesler AA, Dziuba N, Ghosh A, Yu Q, Lindahl PA, Ames JB, Leary SC, Vila AJ, Gohil VM. COA6 Is Structurally Tuned to Function as a Thiol-Disulfide Oxidoreductase in Copper Delivery to Mitochondrial Cytochrome c Oxidase. Cell Rep 2019;29:4114-4126.e5. [PMID: 31851937 DOI: 10.1016/j.celrep.2019.11.054] [Cited by in Crossref: 16] [Cited by in F6Publishing: 16] [Article Influence: 8.0] [Reference Citation Analysis]
280 Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Häberle J, Munnich A, Rötig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J. Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. Hum Mol Genet 2015;24:3238-47. [PMID: 25721401 DOI: 10.1093/hmg/ddv074] [Cited by in Crossref: 39] [Cited by in F6Publishing: 28] [Article Influence: 5.6] [Reference Citation Analysis]
281 Di Nottia M, Montanari A, Verrigni D, Oliva R, Torraco A, Fernandez-Vizarra E, Diodato D, Rizza T, Bianchi M, Catteruccia M, Zeviani M, Dionisi-Vici C, Francisci S, Bertini E, Carrozzo R. Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation. Biochim Biophys Acta Mol Basis Dis 2017;1863:961-7. [PMID: 28132884 DOI: 10.1016/j.bbadis.2017.01.022] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.2] [Reference Citation Analysis]
282 Ramón J, Vila-Julià F, Molina-Granada D, Molina-Berenguer M, Melià MJ, García-Arumí E, Torres-Torronteras J, Cámara Y, Martí R. Therapy Prospects for Mitochondrial DNA Maintenance Disorders. Int J Mol Sci 2021;22:6447. [PMID: 34208592 DOI: 10.3390/ijms22126447] [Reference Citation Analysis]
283 Rahman J, Rahman S. Mitochondrial medicine in the omics era. The Lancet 2018;391:2560-74. [DOI: 10.1016/s0140-6736(18)30727-x] [Cited by in Crossref: 106] [Cited by in F6Publishing: 52] [Article Influence: 26.5] [Reference Citation Analysis]
284 Weber S, Salabei JK, Möller G, Kremmer E, Bhatnagar A, Adamski J, Barski OA. Aldo-keto Reductase 1B15 (AKR1B15): a mitochondrial human aldo-keto reductase with activity toward steroids and 3-keto-acyl-CoA conjugates. J Biol Chem 2015;290:6531-45. [PMID: 25577493 DOI: 10.1074/jbc.M114.610121] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 1.7] [Reference Citation Analysis]
285 Sawyer SL, Schwartzentruber J, Beaulieu CL, Dyment D, Smith A, Warman Chardon J, Yoon G, Rouleau GA, Suchowersky O, Siu V, Murphy L, Hegele RA, Marshall CR, Bulman DE, Majewski J, Tarnopolsky M, Boycott KM; FORGE Canada Consortium. Exome sequencing as a diagnostic tool for pediatric-onset ataxia. Hum Mutat 2014;35:45-9. [PMID: 24108619 DOI: 10.1002/humu.22451] [Cited by in Crossref: 65] [Cited by in F6Publishing: 63] [Article Influence: 8.1] [Reference Citation Analysis]
286 Jett KA, Leary SC. Building the CuA site of cytochrome c oxidase: A complicated, redox-dependent process driven by a surprisingly large complement of accessory proteins. J Biol Chem 2018;293:4644-52. [PMID: 28972150 DOI: 10.1074/jbc.R117.816132] [Cited by in Crossref: 22] [Cited by in F6Publishing: 14] [Article Influence: 4.4] [Reference Citation Analysis]
287 Ruhoy IS, Saneto RP. The genetics of Leigh syndrome and its implications for clinical practice and risk management. Appl Clin Genet. 2014;7:221-234. [PMID: 25419155 DOI: 10.2147/tacg.s46176] [Cited by in Crossref: 15] [Cited by in F6Publishing: 41] [Article Influence: 1.9] [Reference Citation Analysis]
288 González-Quintana A, García-Consuegra I, Belanger-Quintana A, Serrano-Lorenzo P, Lucia A, Blázquez A, Docampo J, Ugalde C, Morán M, Arenas J, Martín MA. Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report. Genes (Basel) 2020;11:E855. [PMID: 32722639 DOI: 10.3390/genes11080855] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
289 Manakov D, Ujcikova H, Pravenec M, Novotny J. Alterations in the cardiac proteome of the spontaneously hypertensive rat induced by transgenic expression of CD36. J Proteomics 2016;145:177-86. [PMID: 27132684 DOI: 10.1016/j.jprot.2016.04.041] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.2] [Reference Citation Analysis]
290 DaRe JT, Vasta V, Penn J, Tran NT, Hahn SH. Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity. BMC Med Genet 2013;14:118. [PMID: 24215330 DOI: 10.1186/1471-2350-14-118] [Cited by in Crossref: 40] [Cited by in F6Publishing: 39] [Article Influence: 4.4] [Reference Citation Analysis]
291 Wong LJ. Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratories. Neurotherapeutics 2013;10:262-72. [PMID: 23269496 DOI: 10.1007/s13311-012-0170-5] [Cited by in Crossref: 20] [Cited by in F6Publishing: 16] [Article Influence: 2.2] [Reference Citation Analysis]
292 Dai Y, Wei X, Zhao Y, Ren H, Lan Z, Yang Y, Chen L, Cui L. A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. Neuromuscul Disord 2015;25:617-24. [PMID: 25987458 DOI: 10.1016/j.nmd.2015.03.002] [Cited by in Crossref: 22] [Cited by in F6Publishing: 21] [Article Influence: 3.1] [Reference Citation Analysis]
293 Wang J, Cui H, Lee NC, Hwu WL, Chien YH, Craigen WJ, Wong LJ, Zhang VW. Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. Genet Med 2013;15:106-14. [PMID: 22899091 DOI: 10.1038/gim.2012.104] [Cited by in Crossref: 49] [Cited by in F6Publishing: 37] [Article Influence: 4.9] [Reference Citation Analysis]
294 Bick AG, Wakimoto H, Kamer KJ, Sancak Y, Goldberger O, Axelsson A, DeLaughter DM, Gorham JM, Mootha VK, Seidman JG, Seidman CE. Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter. Proc Natl Acad Sci U S A 2017;114:E9096-104. [PMID: 29073106 DOI: 10.1073/pnas.1711303114] [Cited by in Crossref: 32] [Cited by in F6Publishing: 27] [Article Influence: 6.4] [Reference Citation Analysis]
295 Brownstein Z, Bhonker Y, Avraham KB. High-throughput sequencing to decipher the genetic heterogeneity of deafness. Genome Biol 2012;13:245. [PMID: 22647651 DOI: 10.1186/gb-2012-13-5-245] [Cited by in Crossref: 24] [Cited by in F6Publishing: 23] [Article Influence: 2.4] [Reference Citation Analysis]
296 Ahmed ST, Craven L, Russell OM, Turnbull DM, Vincent AE. Diagnosis and Treatment of Mitochondrial Myopathies. Neurotherapeutics 2018;15:943-53. [PMID: 30406383 DOI: 10.1007/s13311-018-00674-4] [Cited by in Crossref: 30] [Cited by in F6Publishing: 24] [Article Influence: 10.0] [Reference Citation Analysis]
297 Garone C, Donati MA, Sacchini M, Garcia-Diaz B, Bruno C, Calvo S, Mootha VK, Dimauro S. Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. JAMA Neurol 2013;70:1177-9. [PMID: 23836383 DOI: 10.1001/jamaneurol.2013.3197] [Cited by in Crossref: 31] [Cited by in F6Publishing: 27] [Article Influence: 3.4] [Reference Citation Analysis]
298 Desler C, Rasmussen LJ. Mitochondria in Biology and Medicine. Mitochondrion 2012;12:472-6. [DOI: 10.1016/j.mito.2012.06.008] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 0.5] [Reference Citation Analysis]
299 Dudek J, Hartmann M, Rehling P. The role of mitochondrial cardiolipin in heart function and its implication in cardiac disease. Biochim Biophys Acta Mol Basis Dis 2019;1865:810-21. [PMID: 30837070 DOI: 10.1016/j.bbadis.2018.08.025] [Cited by in Crossref: 29] [Cited by in F6Publishing: 25] [Article Influence: 7.3] [Reference Citation Analysis]
300 Clarke AC, Prost S, Stanton JA, White WT, Kaplan ME, Matisoo-Smith EA; Genographic Consortium. From cheek swabs to consensus sequences: an A to Z protocol for high-throughput DNA sequencing of complete human mitochondrial genomes. BMC Genomics 2014;15:68. [PMID: 24460871 DOI: 10.1186/1471-2164-15-68] [Cited by in Crossref: 23] [Cited by in F6Publishing: 20] [Article Influence: 2.9] [Reference Citation Analysis]
301 Kargaran PK, Mosqueira D, Kozicz T. Mitochondrial Medicine: Genetic Underpinnings and Disease Modeling Using Induced Pluripotent Stem Cell Technology. Front Cardiovasc Med 2020;7:604581. [PMID: 33585579 DOI: 10.3389/fcvm.2020.604581] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]