Marni Joy Falk, MD

faculty photo
Associate 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

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 doi: 10.1371/journal.pone.0221829 14(9), 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 doi: 10.1016/j.ajhg.2019.06.016. [Epub ahead of print]. DOI: 10.1016/j.ajhg.2019.06.016 (eds.). S0002-9297(19): 30241-1, July 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/ doi: 10.3389/fphys.2019.00699 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.

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.

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.

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.

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.

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.

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Last updated: 09/14/2019
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