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: 215-590-4564
Fax: 267-426-2876
Lab: 215-590-9951
BS (Biology)
The George Washington University, 1996.
MD (Medicine)
The George Washington University School of Medicine, 2000.
Permanent link
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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

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 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 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 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 Molecular Genetics 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. Human Molecular Genetics October 2018 Notes: PMC6140788.

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 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 May 2018.

Ganetzky RD, Falk MJ: Microvascular endothelial dysfunction in mitochondrial stroke-like episodes supports use of intravenous L-arginine. Mol Genet Metab March 2018 Notes: PMID: 29560315.

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. Human Mutation March 2018 Notes: PMID: 29539190.

Ganetzky RD, Falk MJ: 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease. Mol Genet Metab. February 2018 Notes: PMID: 29428506.

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Last updated: 06/17/2019
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