Mitochondrial Medicine Publications

Wang J, Balciuniene J, Diaz-Miranda MA, McCormick EM, Eshghi EA, Muir AM, Cao K, Troiani J, Moseley A, Fan Z, Zolkipli-Cunningham Z, Goldstein A, Ganetzky R, Muraresku CC, Peterson JT, Spinner N, Wallace DC, Dulik MC, Falk MJ: Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease. Mol Genet Metab 135(1): 93-101, January 2022 Notes: doi: 10.1016/j.ymgme.2021.12.006. PMCID: PMC8877466

Qi C, Feng I, Costa AR, Pinto-Costa R, Neil JE, Caluseriu O, Li D, Ganetzky RD, Brasch-Anderson C, Fagerberg C, Hansen LK, Bupp C, Muraresku CC, Ruan X, Kang B, Hu K, Zhong R, Brites P, Bhoj EJ, Hill RS, Falk MJ, Hakonarson H, Kahle KT, Sousa MM, Walsh CA, Zhang X: Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. Genet Med 24(2): 319-331, February 2022 Notes: doi: 10.1016/j.gim.2021.09.014. PMCID: PMC8802223

Tinker RJ, Falk MJ, Goldstein A, George-Sankoh I, Xiao R, Adang L, Ganetzky R: Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis. Mol Genet Metab 22(S1096-7192): 00138-X, February 2022 Notes: doi: 10.1016/j.ymgme.2022.02.006.

Valverde K, McCormick EM, Falk MJ. A qualitative exploration of the lived experience of adults diagnosed with primary mitochondrial disease. JIMD Reports, July 2022:1-14. https://doi.org/10.1002/jmd2.12316

Lavorato M, Nakamaru-Ogiso E, Mathew N, Herman E, Shah N, Haroon S, Xiao R, Seiler C, Falk MJ. Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models. JCI Insight. 7(16): August 2022.

Broxton C, Kaur P, Lavorato M, Ganesh S, Xiao R, Mathew N, Ogiso E, Anderson VE, Falk MJ. Dichloroacetate and thiamine improve survival and mitochondrial stress in C. elegans model of dihydrolipoamide dehydrogenase deficiency. JCI Insight. 2022;7(20):e156222. https://doi.org/10.1172/jci. insight.156222.

Elander J, McCormick EM, Varendh M, Stenfeldt K, Ganetzky RG, Goldstein A, Zolkipli-Cunningham Z, MacMullen L, Xiao R, Falk MJ*, Ehinger* (co-senior authors). Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease. Mol Genet Metab. 2022, In Press.

Haroon S, Yoon H, Seiler C, Osei-Frimpong B, He J, Nair RM, Mathew N, Burg L, Venkata C, Anderson VE, Nakamaru-Ogiso E, Falk MJ. N-Acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome. Hum Mol Genet. In revision.

Zolkipli-Cunningham, Z. Mitochondrial Myopathy outcome measures. United Mitochondrial Disease Foundation Annual Meeting, Phoenix, Arizona, June 2022.

Assessing Gene-Disease Associations for Primary Mitochondrial Disease Using the ClinGen Clinical Validity Framework. Elizabeth Mccormick, James Peterson, Julie Taylor, Krista Bluske, Amanda Clause, Anjana Chandrasekhar, Alison Coffey, Xiaowu Gai, Marni Falk, Zarazuela Zolkipli- Cunningham, Shamima Rahman. Society for the Study of Inborn Errors of Metabolism, Freiburg, Germany, September 2022.

Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R*, Van Hove JLK*, Procaccio V*, Le Marechal C*, Chung WK*. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. J Inherit Metab Dis. 2022 May 27. doi: 10.1002/jimd.12526. Epub ahead of print. PMID: 35621276.

Tinker RJ, Falk MJ, Goldstein A, George-Sankoh I, Xiao R, Adang L*, Ganetzky R*. Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosis. Mol Genet Metab. 2022 Apr;135(4):342-349. doi: 10.1016/j.ymgme.2022.02.006. Epub 2022 Feb 19. PMID: 35216885; PMCID: PMC8965798.

Alves CAPF, Goldstein A, Teixeira SR, Barcelos I, Fadda G, Caschera L, Kidd M, Goncalves FG, McCormick EM, Falk MJ, Zolkipli-Cunningham Z, Vossough A, Zuccoli G: Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children. Am J Neuroradiol 42(2): 389-396, January 2021 Notes: doi: 10.3174/ajnr.A6910. PMCID: PMC7872189

Lavorato M, Mathew ND, Shah N, Nakamaru-Ogiso E, Falk MJ: Comparative Analysis of Experimental Methods to Quantify Animal Activity in Caenorhabditis elegans Models of Mitochondrial Disease. J Vis Exp 4(170), April 2021 Notes: doi: 10.3791/62244. PMCID: PMC8572545

Guha, S, Mathew, N, Konkwo, C, Ostrovsky, J, Kwon, YJ, Polyak, E, Seiler, C, Bennett, M, Xiao, R, Zhang, Z, Nakamaru-Ogiso, E, Falk, MJ: Combinatorial glucose, nicotinic acid, and N-acetylcysteine therapy has synergistic effect in preclinical C. elegans and zebrafish models of mitochondrial complex I disease. Hum Mol Genet 30(7): 536-551, May 2021 Notes: doi: 10.1093/hmg/ddab059. PMCID: PMC8120136

Cuddapah VA, Dubbs HA, Adang L, Kugler SL, McCormick EM, Zolkipli-Cunningham Z, Ortiz-González XR, McCormack S, Zackai E, Licht DJ, Falk MJ, Marsh ED: Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. Am J Med Genet A 185(6): 1700-1711, June 2021 Notes: doi: 10.1002/ajmg.a.62156. Epub 2021 Mar 10.

Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F: Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A 185(6): 1649-1665, June 2021 Notes: doi: 10.1002/ajmg.a.62124. PMCID: PMC8631250

Lien YC, Zhang Z, Cheng Y, Polyak E, Sillers L, Falk MJ, Ischiropoulos H, Parry S, Simmons RA: Human placental transcriptome reveals critical alterations in inflammation and energy metabolism with fetal sex differences in spontaneous preterm birth. Int J Mol Sci 22(15): 7899, July 2021 Notes: doi: 10.3390/ijms22157899. PMCID: PMC8347496

Flickinger J, Fan J, Wellik A, Ganetzky R, Goldstein A, Muraresku CC, Glanzman AM, Balance E, Leonhardt K, McCormick EM, Soreth B, Nguyen S, Gornish J, George-Sankoh I, Peterson J, MacMullen L, Vishnubhatt S, McBride M, Haas R, Falk MJ, Xiao R, Zolkipli-Cunningham Z: Development of a Mitochondrial Myopathy-Composite Assessment Tool. JCSM Clin Rep 6(4): 109-127, August 2021. PMCID: PMC8782422

Li M, Glass J, Du X, Dubbs H, Harr MH, Falk M, Smolarek T, Hopkin RJ, Zackai E, Sheppard SE: Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines. Am J Med Genet A 185(8): 2374-2383, August 2021 Notes: doi: 10.1002/ajmg.a.62251. PMCID: PMC8662755

Ehinger JK, Karlsson M, Sjövall F, Leffler M, McCormack SE, Kubis SE, Åkesson A, Falk MJ, Kilbaugh TJ: Predictors of outcome in children with disorders of mitochondrial metabolism in the pediatric intensive care unit. Pediatr Res 90(6): 1221-1227, December 2021 Notes: doi: 10.1038/s41390-021-01410-z. Epub 2021 Feb 24. PMCID: PMC7903037

Karaa A, MacMullen LE, Campbell JC, Christodoulou J, Cohen BH, Klopstock T, Koga Y, Lamperti C, Maanen R, McFarland R, Parikh S, Harman S, Scaglia F, Sherman AV, Yeske P, Falk MJ: Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease. Advanced Genetics December 2021 Notes: https://doi.org/10.1002/ggn2.202100047.

Falk MJ: The Pursuit of Precision Mitochondrial Medicine: Harnessing pre-clinical cellular and animal models to optimize mitochondrial disease therapeutic discovery. Inherit Metab Dis 44(2): 312-324, March 2021 Notes: doi: 10.1002/jimd.12319. Epub 2020 Nov 2. PMCID: PMC7994194

Ganetzky R, McCormick EM, Falk MJ: Pyruvate dehydrogenase deficiency syndromes. GeneReviews. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A (eds.). June 2021 Notes: Internet.

Alistair T. Pagnamenta,*, Rauan Kaiyrzhanov,*, Yaqun Zou,*, Sahar I. Da'as,*, Reza Maroofian,*, Sandra Donkervoort, Matteo P. Ferla, Andrea Orioli, Adam Giess, N. Dominik, Arianna Tucci, Christian Beetz, Maryam Sedghi, Behnaz Ansari, Rita Barresi, Keivan Basiri, Andrea Cortese, Greg Elgar, Miguel A. Fernandez-Garcia1, Janice Yip, A. Reghan Foley, Nicholas Gutowski, Heinz Jungbluth, Saskia Lassche, Tim Lavin, Carlo Marcelis, Peter Marks, Chiara Marini-Bettolo, Livija Medne, Ali-Reza Moslemi, Anna Sarkozy, Mary M. Reilly, Francesco Muntoni, Francisca Millan, Colleen C. Muraresku, Anna C. Need, Andrea H. Nemeth, Sarah B. Neuhaus, Fiona Norwood, Marie O'Donnell, Mary O’Driscoll, Julia Rankin, Sabrina W. Yum, Zarazuela Zolkipli-Cunningham, Marlen Lauffer, Isabell Brusius, Gilbert Wunderlich, Genomics England Research Consortium, Mert Karakaya, Brunhilde Wirth, Khalid A. Fakhro, Homa Tajsharghi, Carsten G. Bönnemann, Jenny C. Taylor, Henry Houlden. An ancestral 10bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain 2021: March 3;144 (2): 584-600.

Jean Flickinger, Jiaxin Fan, Amanda Wellik, Rebecca Ganetzky, Amy Goldstein, Colleen C. Muraresku, Allan Glanzman, Elizabeth Ballance, Kristin Leonhardt, Elizabeth McCormick, Brianna Soreth, Sara Nguyen, Jennifer Gornish, Ibrahim George-Sankoh, James Peterson, Laura MacMullen, Michael McBride, Richard Haas, Marni J. Falk, Rui Xiao, Zarazuela Zolkipli- Cunningham. Development of a Mitochondrial Myopathy Composite Assessment Tool (MM- COAST), Journal of Cachexia, Sarcopenia and Muscle Clinical Reports, August 2021.

Zolkipli-Cunningham, Z. New Mitochondrial outcome measures in the era of clinical trials. Wellcome Trust Mitochondrial Medicine Meeting (Virtual), December 2021.

Peretz RH, Mew NA, Vernon HJ, Ganetzky RD. Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening. Mol Genet Metab. 2021 Jun 24; PubMed PMID: 34176718; NIHMSID: NIHMS1720500.

Stendel, C, Neuhofer, C, Floride, E, Yuqing, S, Ganetzky, RD, Park, J, Freisinger, P, Kornblum, C, Kleinle, S, Schöls, L, Distelmaier, F, Stettner, GM, Büchner, B, Falk, MJ, Mayr, JA, Synofzik, M, Abicht, A, Haack, TB, Prokisch, H, Wortmann, SB, Murayama, K, Fang, F, Klopstock, T; ATP6 Study Group: Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration. Neurol Genet Jan 2020 Notes: doi: 10.1212/NXG.0000000000000393. PMCID: 32042921

Madsen KL, Buch AE, Cohen B, Falk MJ, Goldsberry A, Goldstein A, Karaa A, Koenig MK, Muraresku C, Meyer C, O'Grady M, Scaglia F, Shieh P, Vockley J, Zolkipli-Cunningham Z, Haller R, Vissing J.: Safety and Efficacy of Omaveloxolone in Mitochondrial Myopathy Patients Neurology Neurology® February 2020 Notes: DOI: 10.1212/WNL.0000000000008861 PMCID: 31896620

Barca, E, Long, Y, Cooley, V, Schoenaker, R, Emmanuele, V, Dimauro, S, Cohen, BH, Karaa, A, Vladutiu, GD, Haas, R, Van Hov, JLK, Scaglia, F, Parikh, S, Bedoyan, J, 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, Roales XQ, Kriger J, Grier J, Buchsbaum R, Thompson JFP, Hirano M: Mitochondrial diseases in North American: An analysis of the NAMDC registry. Neurol Genet 6((2): e402), April 2020 Notes: doi:10.1212/NXG.0000000000000402. PMCID: PMC7164977

Goncalves, FG, Hill, B, Guo, Y, Muraresku, CC, McCormick, E, Alves, CAPF, Reis, ST, Saavedra, JSM, Zolkipli-Cunningham, Z, Falk, MJ, Vossough, A, Goldstein, A, Zuccoli, G: The Perirolandic Sign: A unique Imaging Finding Observed in Association with Polymerase-Gamma Related Disorders. AJNR Am J Neuroradiol 41(5): 917-922, May 2020 Notes: https://dx.doi.org/10.3174/ajnr.A6514. PMCID: PMC7228159

Alves CAPF, Teixeira SR, Martin-Saavedra JS, Guimarães Gonçalves F, Lo Russo F, Muraresku C, McCormick EM, Falk MJ, Zolkipli-Cunningham Z, Ganetzky R, Vossough A, Goldstein A, Zuccoli G: Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations. Ann Neurol 88(2): 218-232, August 2020 Notes: doi: 10.3174/ajnr.A6514. PMCID: PMC7228159

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 September 2020 Notes: doi: 10.1002/humu.24107. PMCID: PMC7717623

Shen L, McCormick EM, Muraresku CC, Falk MJ, Gai X: Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease. Clin Lab Med 40(2): 149-161, June 2020 Notes: doi: 10.1016/j.cll.2020.02.002. PMCID: PMC7250163

Barcelos I, Shadiack E, Ganetzky RD, Falk MJ: Mitochondrial Medicine Therapies: Rationale, Evidence, and Dosing Guidelines. Curr Opin Pediatr 32(6): 707-718, December 2020 Notes: doi: 10.1097/MOP.0000000000000954. PMCID: PMC7774245

Karen Lindhart Madsen, Astrid Emilie Buch, Bruce Cohen, Marni J Falk, Angela Goldberry, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Colleen Clarke Muraresku, Colin Meyer, Megan O’Grady, Fernando Scaglia, Perry B. Shieh, Jerry Vockley, Zarazuela Zolkipli-Cunningham, Ronald G Haller*, and John Vissing*. *equal contribution. Safety and Efficacy of Omaveloxolone in Mitochondrial Myopathy Patients (MOTOR Trial). Neurology 2020 Feb 18;94(7):e687-698.

Zolkipli-Cunningham, Z. Prospective analysis of Macronutrient Intake and Standardized Daily Calorie Estimation using the MOTIVATOR for Primary Mitochondrial Disease Clinical Trials. Invited Poster- Talk, Wellcome Trust Mitochondrial Medicine International Virtual Meeting, Cambridge, UK. Dec 2, 2020.

Cesar Augusto Pinheiro Ferreira Alves, Sara Reis Teixeira, Juan Sebastian Martin Saavedra, Fabricio Guimaraes Goncalves, Francesco Lo Russo, Colleen Muraresku, Elizabeth M. McCormick, Marni J Falk MD, Zarazuela Zolkipli-Cunningham, Rebecca Ganetzky, Arastoo Vossough, Amy Goldstein, Giulio Zuccoli. Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations. Annals of Neurology. August, 2020.

Ganetzky RD, Master SR. Machine Learning for the Biochemical Genetics Laboratory. Clin Chem. 2020 Sep 1;66(9):1134-1135. PubMed Central PMCID: PMC8059343

Priestley JRC, Alharbi H, Callahan KP, Guzman H, Payan-Walters I, Smith L, Ficicioglu C, Ganetzky RD, Ahrens-Nicklas RC. The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening. Int J Neonatal Screen. 2020 Jun;6(2) PubMed Central PMCID: PMC7422996.

Shayota BJ, Donti TR, Xiao J, Gijavanekar C, Kennedy AD, Hubert L, Rodan L, Vanderpluym C, Nowak C, Bjornsson HT, Ganetzky R, Berry GT, Pappan KL, Sutton VR, Sun Q, Elsea SH. Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non- oxidative branch of the pentose phosphate pathway. Mol Genet Metab. 2020 Sep-Oct;131(1-2):147- 154. doi: 10.1016/j.ymgme.2020.07.013. Epub 2020 Aug 5. PMID: 32828637.

Murali CN, Ganetzky R. Persistent Lactic Acidosis in an 18-month-old Girl Status Post Bone Marrow Transplant. Pediatr Rev. 2020 Oct;41(Suppl 1):S20-S22. PubMed PMID: 33004573.

Barcelos I*, Shadiack E*, Ganetzky RD†, Falk MJ†. Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines. Curr Opin Pediatr. 2020 Dec;32(6):707-718. PubMed Central PMCID: PMC7774245.

Guha S, Konkwo C, Lavorato M, Mathew N, Peng M, Ostrovsky J, Kwon YJ, Polyak E, Lightfoot R, Seiler C, Xiao R, Bennett M, Zheng Z, Nakamaru-Ogiso E, Falk MJ: Pre-clinical evaluation of cysteamine bitartrate as a therapeutic agent for mitochondrial disease. Human Mol Gen 28(11): 1837-1852, January 2019. PMCID: PMC6522065

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 56(3): 123-130, January 2019.

Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ: MT-ATP6 Mitochondrial Disease Variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. Hum Mutat 5: 499-515, February 2019. PMCID: PMC6506718

Triska P, Kaneva K, Merkurjev D, Sohail N, Falk MJ, Trich TJ Jr, Biegel JA, Gai X: Landscape of germline and somatic mitochondrial DNA mutations in pediatric malignancies. Cancer Res 79(7): 1318-1330, February 2019. PMCID: PMC6445760

Anton L, DeVine A, Polyak E, Olarerin-George A, Brown AG, Falk MJ, Elovitz MA: HIF-1α Stabilization Increases miR-210 Eliciting First Trimester Extravillous Trophoblast Mitochondrial Dysfunction. Front Physiol 10(1): 699, June 2019. PMCID: PMC6590495

Haijes, HA, Koster, MJE, Rehmann, H, Li, D, Hakonarson, H, Cappuccio, G, Hancarova, M, Lehalle, D, Reardon, W, Schaefer, GB, Lehman, A, van de Laar, IMBH, Tesselaar, CD, Turner, C, Goldenberg, A, Patrier, S, Thevenon, J, Pinelli, M, Brunetti-Pierri, N, Prchalová, D, Havlovicová, M, Vlckova, M, Sedláček, Z, Lopez, E, Ragoussis, V, Pagnamenta, AT, Kini, U, Vos, HR, van Es, RM, van Schaik,RFMA, van Essen, TAJ, Kibaek, M, Taylor, JC, Sullivan, J, Shashi, V, Petrovski, S, Fagerberg, C, Martin, DM, van Gassen, KLI, Pfundt, R, Falk, MJ, McCormick, EM, Timmers, HTM, van Hasselt, PM: De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. Am J Hum Genet 105(2): 283-301, Aug 2019. PMCID: PMC6699192

Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ: Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes. PLoS One 14(9): doi: 10.1371, September 2019. PMCID: 31479473

Goldstein A, Falk MJ,Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A: Mitochondrial DNA Deletion Syndromes. University of Washington, Seattle 1993-2019. 2003 Dec 17 [updated 2019 Jan 31] GeneReviews [Internet] (eds.). Jan 2019.

Falk M.J., Moreno, M: What Parents Need to Know About Genetic Testing. JAMA Pediatrics 173(4): 404, Apr 2019.

Zolkipli-Cunningham, Z, She, D, Mitchell, K, Wallace, DC, Allen, Mark, Falk, MJ. Development of a minimally invasive muscle O2 nanosensor for Mitochondrial Myopathy. Invited Talk. American Academy of Neurology Meeting, Philadelphia, PA May 2019.

Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ. MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. Hum Mutat. 2019 May;40(5):499-515. PubMed Central PMCID: PMC6506718.

Weiss SL, Blowey B, Keele L, Ganetzky R, Murali CN, Fitzgerald JC, Sutton RM, Berg RA. Matched Retrospective Cohort Study of Thiamine to Treat Persistent Hyperlactatemia in Pediatric Septic Shock. Pediatr Crit Care Med. 2019 Sep;20(9):e452-e456. PubMed Central PMCID: PMC6726577.

Al-Gadi I, Haas R, Falk MJ, Goldstein A, McCormack SE: Endocrine disorders in primary mitochondrial disease. Journal of the Endocrine Society 19,2(4): 361-373. February 2018. PMCID: PMC5865537

Ganetzky RD, Falk MJ: 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease. Mol Genet Metab 123(3): 301-308, February 2018. PMCID: PMC29428506

Polyak E, Ostrovsky J, Peng M, Dingley SD, Tsukikawa M, Kwon YJ, McCormack S, Bennett M, Xiao R, Seiler C, Zhang Z, Falk MJ.: N-acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease. Mol Genet Metab 123(4): 449-462, February 2018. PMCID: PMC5891356

Xia Q, Lu S, Ostrovsky J, McCormack SE, Falk MJ, Grant SFA: PARP-1 inhibition rescues short lifespan in hyperglycemic C. elegans and improves GLP-1 secretion in human cells. Aging Dis 9(1): 17-30, February 2018. PMCID: PMC5772855

Ganetzky RD, Falk MJ: Microvascular endothelial dysfunction in mitochondrial stroke-like episodes supports use of intravenous L-arginine. Mol Genet Metab 9(15): 74, March 2018. PMCID: PMC5857490

Shen L, Attimonelli M, Bai R, Lott MT, Wallace DC, Falk MJ, Gai X.: MSeqDR mvTool: a Mitochondrial DNA Web and API Resource for Comprehensive Variant Annotation, Universal Nomenclature Collation, and Reference Genome Conversion. Hum Mut 39(6): 806-810, March 2018. PMCID: PMC5992054

Zolkipli-Cunningham Z, Xiao R, Stoddart A, McCormick EM, Holberts A, Burrill N, McCormack S, Williams L, Want X, Thompson JLP, Falk MJ: Mitochondrial disease patient motivations and barriers to participate in clinical trials. PLOS ONE 13(5), May 2018. PMCID: PMC5957366

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF, DDD Study, Arboleda VA, Newbury-Ecob R.: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med 21(4): 850-860, September 2018. PMCID: PMC6634310.

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, E, 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 Gen 27(19): 3305-3312, October 2018. PMCID: PMC6140788

McCormick EM, Muraresku CC, Falk MJ: A Complex Field Now Coming of Age. Curr Genet Med Rep 6(2): 52-61, May 2018. PMCID: PMC6205240

Muraresku CC, McCormick EM, Falk MJ: Mitochondrial Disease: Advances in Clinical Diagnosis, Management, Therapeutic Development, and Preventative Strategies. Curr Genet Med Rep 6(2): 62-72, Jun 2018. PMCID: PMC6208355

McCormick EM, Zolkipli-Cunningham Z, Falk MJ: Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. Curr Opin Pediatr 30(6): 714-724, Dec 2018. PMCID: PMC6467265

Zarazuela Zolkipli-Cunningham, Rui Xiao, Amy Stoddart, Elizabeth M. McCormick, Amy R Holberts, Natalie Burrill, Shana McCormack, Lauren Williams, Xioayang Wang, John L.P. Thompson, Marni J. Falk. Mitochondrial disease patient motivations and barriers to participate in clinical trials. Plos One May 17;13(5):e0197513. doi: 10.1371/journal.pone.0197513. eCollection 2018.

Zolkipli-Cunningham, Z., She, D., Wallace, D., Allen, M., Falk, MJ. Development of a minimally invasive muscle O2 Nanosensor in Mitochondrial Myopathy. Invited Talk. Society of Inherited Metabolic Disorders Annual Meeting, San Diego, CA March 2018. Molecular Genetics and Metabolism 2018, 123(2) March 2018.

A J. Kuszak, M G. Espey, M J. Falk, M A. Holmbeck, G Manfredi, G S. Shadel, H Vernon, Z Zolkipli Cunningham (2018). Model Systems to Investigate Nutritional Interventions in Mitochondrial OXPHOS Deficiencies. Annual Reviews of Pathology. Annu Rev Pathol. Jan 24;13:163-191.

*McCormick, E.M, *Zolkipli-Cunningham, Z, Falk, M.J. * equal contribution. Mitochondrial Disease Genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. Curr Opinion Pediatrics 2018 Sept 7.

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 Oct 1;27(19):3305-3312. PubMed Central PMCID: PMC6140788.

Ganetzky RD, Falk MJ. Microvascular endothelial dysfunction in mitochondrial stroke-like episodes supports use of intravenous l-arginine. Mol Genet Metab Rep. 2018 Jun;15:74. PubMed Central PMCID: PMC5857490.

Ganetzky RD, Falk MJ. 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease. Mol Genet Metab. 2018 Mar;123(3):301-308. PubMed Central PMCID: PMC5849405.

Karaa A, Rahman S, Lombès A, Yu-Wai-Man P, Sheikh MK, Alai-Hansen S, Cohen BH, Dimmock D, Emrick L, Falk MJ, McCormack S, Mirsky D, Moore T, Parikh S, Shoffner J, Taivassalo T, Tarnopolsky M, Tein I, Odenkirchen JC, Goldstein A.: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project.; Mito Working Group Member Participants. J Inherit Metab Dis 40(3): 403-414, May 2017.

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. Mol. Genet Metab. 40(5): 673-683, June 2017. PMCID: PMC5492979.

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. 117: 23-34, July 2017. PMCID: PMC5773416.

Kong J, Peng M, Ostrovsky J, Kwon YJ, Oretsky O, McCormick E, He M, Argon Y, Falk MJ: Mitochondrial function requires NGLY1. Mitochondrion 38: 6-16, July 2017. PMCID: PMC6038697.

Zolkipli-Cunningham Z, Falk MJ: Clinical effects of chemical exposures on mitochondrial function. Toxicology. Epub 1(391): 90-99. July 2017 Notes: PMCID: PMC6078194.

Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Bodaert 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. * Equal contribution. Am J Hum Genet 101(2): 239-254, August 2017. PMCID: PMC5544391.

Gandhi SS, Muraresku C, McCormick EM, Falk MJ, McCormack SE.: Risk factors for poor bone health in primary mitochondrial disease. J Inherit Metab Dis 40(5): 673-683, September 2017. PMCID: PMC5659975.

Kwon YJ, Guha S, Tuluc F, Falk MJ: High-throughput BioSorter quantification of relative mitochondrial content and membrane potential in living Caenorhabditis elegans. Mitochondrion 40: 42-50. October 2017 Notes: PMCID: PMC58558966.

Chapman KC, Ostrovsky J, Rao M, Dingley SD, Polyak E, Yudkoff M, Xiao R, Bennett MJ, Falk MJ: Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism. J Inher Metab Disease 41(2): 157-168, Nov 2017. PMCID: PMC5832583.

Kuszak, AJ, Espey, MG, Falk, MJ, Holmbeck, MA, Manfredi, G, Shadel, GS, Vernon, HJ, Zolkipli-Cunningham, Z.: Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems. Annu Rev Pathol 24(13): 163-191, Nov 2017. PMCID: PMC5911915.

S Parikh, A Goldstein, A Karaa, M K. Koenig, I Anselm, C Brunel-Guitton, J Christodoulou, B H. Cohen, D Dimmock, G M. Enns, M J Falk, A Feigenbaum, R E. Frye, J Ganesh, D Griesemer, R Haas, R Horvath, M Korson, M C Kruer, M Mancuso, S McCormack, T Reimschisel, R Salvarinova, Rl P. Saneto, F Scaglia, J Shoffner, P Stacpoole, C M. Sue, Mark Tarnopolsky, C V. Karnebeek, L A. Wolfe, Z Zolkipli Cunningham, S Rahman, P F. Chinnery (2018). Patient Care Guidelines for Primary Mitochondrial Disease: A Consensus Statement from the Mitochondrial Medicine Society. Genet Med 19(12), 2017.

Ganetzky RD, Bedoukian E, Deardorff MA, Ficicioglu C. Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen. JIMD Rep. 2017;34:43-47. PubMed Central PMCID: PMC5509549.