Marni Joy Falk, MD

faculty photo
Professor of Pediatrics at the Children's Hospital of Philadelphia
Department: Pediatrics

Contact information
The Children's Hospital of Philadelphia
ARC 1002c
3615 Civic Center Blvd
Philadelphia, PA 19104
Office: 267-426-4961
Fax: 267-426-2876
Lab: 215-590-9951
Education:
BS (Biology)
The George Washington University, 1996.
MD (Medicine)
The George Washington University School of Medicine, 2000.
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Description of Research Expertise

Mitochondrial disease; Genetic basis of Mendelian disease; C. elegans models of mitochondrial disease and therapy

Description of Clinical Expertise

Mitochondrial Disease; Ophthalmologic Genetic Disease; Clinical Genetics

Selected Publications

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

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.

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 2020 Notes: Doi:10.1212/NXG.0000000000000402.

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 2020 Notes: https://dx.doi.org/10.3174/ajnr.A6514.

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: "Mitochondrial Cocktail’: Synergistic effects of glucose, nicotinic acid, and n-acetylcysteine combinatorial therapies in pre-clinical animal models of mitochondrial complex I disease. J Clin Inv 2020.

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.

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.

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.

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.

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.

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Last updated: 07/27/2020
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