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For: 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]
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6 Al-Gadi IS, Haas RH, Falk MJ, Goldstein A, McCormack SE. Endocrine Disorders in Primary Mitochondrial Disease. J Endocr Soc 2018;2:361-73. [PMID: 29594260 DOI: 10.1210/js.2017-00434] [Cited by in Crossref: 21] [Cited by in F6Publishing: 12] [Article Influence: 5.3] [Reference Citation Analysis]
7 Bennett B, Helbling D, Meng H, Jarzembowski J, Geurts AM, Friederich MW, Van Hove JLK, Lawlor MW, Dimmock DP. Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome. Free Radic Biol Med 2016;92:141-51. [PMID: 26773591 DOI: 10.1016/j.freeradbiomed.2016.01.001] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 2.2] [Reference Citation Analysis]
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10 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]
11 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]
12 Lee SR, Han J. Mitochondrial Mutations in Cardiac Disorders. Adv Exp Med Biol 2017;982:81-111. [PMID: 28551783 DOI: 10.1007/978-3-319-55330-6_5] [Cited by in Crossref: 15] [Cited by in F6Publishing: 13] [Article Influence: 3.0] [Reference Citation Analysis]
13 Byrnes J, Ganetzky R, Lightfoot R, Tzeng M, Nakamaru-Ogiso E, Seiler C, Falk MJ. Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish. Neurochem Int 2018;117:23-34. [PMID: 28732770 DOI: 10.1016/j.neuint.2017.07.008] [Cited by in Crossref: 21] [Cited by in F6Publishing: 18] [Article Influence: 4.2] [Reference Citation Analysis]
14 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]
15 Falk MJ, Shen L, Gai X. From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases. Cold Spring Harb Mol Case Stud 2016;2:a001065. [PMID: 27148591 DOI: 10.1101/mcs.a001065] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
16 Hubens WHG, Vallbona-Garcia A, de Coo IFM, van Tienen FHJ, Webers CAB, Smeets HJM, Gorgels TGMF. Blood biomarkers for assessment of mitochondrial dysfunction: An expert review. Mitochondrion 2021:S1567-7249(21)00148-3. [PMID: 34740866 DOI: 10.1016/j.mito.2021.10.008] [Reference Citation Analysis]
17 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]
18 Zolkipli-Cunningham Z, Xiao R, Stoddart A, McCormick EM, Holberts A, Burrill N, McCormack S, Williams L, Wang X, Thompson JLP, Falk MJ. Mitochondrial disease patient motivations and barriers to participate in clinical trials. PLoS One 2018;13:e0197513. [PMID: 29771953 DOI: 10.1371/journal.pone.0197513] [Cited by in Crossref: 25] [Cited by in F6Publishing: 26] [Article Influence: 6.3] [Reference Citation Analysis]
19 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]
20 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]
21 Barca E, Long Y, Cooley V, Schoenaker R, Emmanuele V, DiMauro S, Cohen BH, Karaa A, Vladutiu GD, Haas R, Van Hove JLK, Scaglia F, Parikh S, Bedoyan JK, DeBrosse SD, Gavrilova RH, Saneto RP, Enns GM, Stacpoole PW, Ganesh J, Larson A, Zolkipli-Cunningham Z, Falk MJ, Goldstein AC, Tarnopolsky M, Gropman A, Camp K, Krotoski D, Engelstad K, Rosales XQ, Kriger J, Grier J, Buchsbaum R, Thompson JLP, Hirano M. Mitochondrial diseases in North America: An analysis of the NAMDC Registry. Neurol Genet 2020;6:e402. [PMID: 32337332 DOI: 10.1212/NXG.0000000000000402] [Cited by in Crossref: 14] [Cited by in F6Publishing: 8] [Article Influence: 7.0] [Reference Citation Analysis]
22 Juaristi I, García-Martín ML, Rodrigues TB, Satrústegui J, Llorente-Folch I, Pardo B. ARALAR/AGC1 deficiency, a neurodevelopmental disorder with severe impairment of neuronal mitochondrial respiration, does not produce a primary increase in brain lactate. J Neurochem 2017;142:132-9. [PMID: 28429368 DOI: 10.1111/jnc.14047] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 2.2] [Reference Citation Analysis]
23 Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S. Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet 2015;11:e1005097. [PMID: 25807530 DOI: 10.1371/journal.pgen.1005097] [Cited by in Crossref: 65] [Cited by in F6Publishing: 55] [Article Influence: 9.3] [Reference Citation Analysis]
24 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]
25 Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X; MSeqDR Consortium Participants., MSeqDR Consortium participants: Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church,., Rosanna Clima, Bruce H. Cohen, Richard G. Cotton, IFM de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre,., Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H. Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki,., Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe,., Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong. Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Mol Genet Metab 2015;114:388-96. [PMID: 25542617 DOI: 10.1016/j.ymgme.2014.11.016] [Cited by in Crossref: 53] [Cited by in F6Publishing: 41] [Article Influence: 6.6] [Reference Citation Analysis]
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27 McCormack SE, Xiao R, Kilbaugh TJ, Karlsson M, Ganetzky RD, Cunningham ZZ, Goldstein A, Falk MJ, Damrauer SM. Hospitalizations for mitochondrial disease across the lifespan in the U.S. Mol Genet Metab 2017;121:119-26. [PMID: 28442181 DOI: 10.1016/j.ymgme.2017.04.007] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 1.6] [Reference Citation Analysis]
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29 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]
30 McCormick EM, Muraresku CC, Falk MJ. Mitochondrial Genomics: A complex field now coming of age. Curr Genet Med Rep 2018;6:52-61. [PMID: 30386685 DOI: 10.1007/s40142-018-0137-x] [Cited by in Crossref: 17] [Cited by in F6Publishing: 13] [Article Influence: 4.3] [Reference Citation Analysis]
31 Qian M, Spada C, Wang X. Approach, Application, and Bioethics of mtDNA Sequencing in Cancer. In: Sun H, Wang X, editors. Mitochondrial DNA and Diseases. Singapore: Springer; 2017. pp. 23-38. [DOI: 10.1007/978-981-10-6674-0_3] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
32 Krieg E, Calderwood L, Campion M, Krepkovich KE. Confirmed versus suspected: The social significance of a genetic or non-genetic diagnosis of mitochondrial disease. Mitochondrion 2016;28:60-6. [PMID: 27017995 DOI: 10.1016/j.mito.2016.03.008] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.3] [Reference Citation Analysis]
33 Kwon YJ, Guha S, Tuluc F, Falk MJ. High-throughput BioSorter quantification of relative mitochondrial content and membrane potential in living Caenorhabditis elegans. Mitochondrion 2018;40:42-50. [PMID: 28986305 DOI: 10.1016/j.mito.2017.09.004] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 1.2] [Reference Citation Analysis]
34 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]
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36 Kuthethur R, Prasad K, Chakrabarty S, Prasada Kabekkodu S, Singh KK, Thangaraj K, Satyamoorthy K. Advances in Mitochondrial Medicine and Translational Research. Mitochondrion 2021:S1567-7249(21)00102-1. [PMID: 34363984 DOI: 10.1016/j.mito.2021.08.001] [Reference Citation Analysis]
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38 Vergano SS, Rao M, McCormack S, Ostrovsky J, Clarke C, Preston J, Bennett MJ, Yudkoff M, Xiao R, Falk MJ. In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans. Mol Genet Metab 2014;111:331-41. [PMID: 24445252 DOI: 10.1016/j.ymgme.2013.12.011] [Cited by in Crossref: 21] [Cited by in F6Publishing: 21] [Article Influence: 2.3] [Reference Citation Analysis]
39 Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ. USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet 2018;27:3305-12. [PMID: 29917077 DOI: 10.1093/hmg/ddy231] [Cited by in Crossref: 25] [Cited by in F6Publishing: 19] [Article Influence: 8.3] [Reference Citation Analysis]
40 McCormick EM, Lott MT, Dulik MC, Shen L, Attimonelli M, Vitale O, Karaa A, Bai R, Pineda-Alvarez DE, Singh LN, Stanley CM, Wong S, Bhardwaj A, Merkurjev D, Mao R, Sondheimer N, Zhang S, Procaccio V, Wallace DC, Gai X, Falk MJ. Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Hum Mutat 2020;41:2028-57. [PMID: 32906214 DOI: 10.1002/humu.24107] [Cited by in Crossref: 10] [Cited by in F6Publishing: 7] [Article Influence: 5.0] [Reference Citation Analysis]
41 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]
42 Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K, Riazuddin S, Riazuddin S, Ahmed ZM. Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss. Otolaryngol Head Neck Surg 2013;149:478-87. [PMID: 23770805 DOI: 10.1177/0194599813493075] [Cited by in Crossref: 16] [Cited by in F6Publishing: 17] [Article Influence: 1.8] [Reference Citation Analysis]
43 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]