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Marni Joy Falk, MD

Marni Joy Falk, MD

faculty photo
Assistant 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
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

Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Collins A, Cohen BH, Debrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA : Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and Clinical Challenges. Mitochondrion 14(1): 26-33, Jan 2014 Notes: doi: 10.1016/j.mito.2013.07.116.

Jarvik GP, Amendola LM, Berq JS, Brothers K, Clayton et al. (plus 100 Collaborators including Falk MJ): Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between. Am J Hum Genet. pii: S0002-9297(14)00181-5. doi: 10.1016/j.ajhg.2014.04.009. P 2014.

Dingley SD, Polyak E, Ostrovsky J, Srinivasan S, Icksoo L, Rosenfeld AB, Tsukikawa M, Xiao R, Selak MA, Coon JJ, Hebert A, Grimsrud P, Kwon YJ, Pagliarini D, Gai X, Schurr TG, Huttemann M, Nakamaru-Ogiso E, Falk MJ: Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans. Journal of Molecular Biology. Feb 14. pii: S0022-2836(14)00075-8. doi: 10.1016/j.jmb.2014.02.009. [Epub ahead of print]. 2014.

Schrier-Vergano S, 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. Molecular Genetics and Metabolism. 17-JAN-2014. doi: 10.1016/j.ymgme.2013.12.011. 2014.

Zhang Z, Falk MJ : Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction. Int J Biochem Cell Biol. Feb 22;50C:106-111. doi: 10.1016/j.biocel.2014.02.012. [Epub ahead of print]. 2014.

Mitalipov S, Amato P, Parry S, Falk MJ : Limitations of preimplantation genetic diagnosis for mitochondrial DNA diseases: Comment on “Data from artificial models of mitochondrial DNA disorders are not always applicable to humans”. Cell Report. In press. 2014.

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, Guo Y, Tian L, Palmieri F, Hakonarson H: AGC1 deficiency causes infantile-onset epilepsy, abnormal myelination, and reduced N-acetylaspartate. Journal of Inherited Metabolic Disease. Feb 11 [Epub ahead of print]. 2014.

Bannwart S, Procaccio V, Lebre AS, Jardel C, Chaussenot A, Hoarau C, Maoulida H, Charrier N, Gai X, Xie HM, Ferre M, Fragaki K, Hardy G, Mousson de Camaret B, Marlin S, Dhaenens CM, Slama A, Rocher C, Bonnefont P, Rotig A, Aoutil N, Gilleron M, Desquiret-Dumas V, Reynier P, Ceresuela J, Jonard L, Devos A, Espil-Taris C, Martinez D, Gaignard P, Falk MJ, Florentz C, Chabrol B, Durand-Zaleski I, Paquis-Flucklinger V: Rare mitochondrial DNA mutations account at least for 10% of patients with mitochondrial disorders: study of a French large cohort. Journal of Medical Genetics. doi:10.1136/jmedgenet-2013-101604. Epub 2013 Jul 11. 50(10): 704-714, Oct 2013.

Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorz M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih M, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce E, Meitinger T, Freisinger P*, Sperl W*, Prokisch H*, Alkuraya F*, Falk MJ*, Zeviani M*: Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. American Journal of Human Genetics. doi: 10.1016/j.ajhg.2013.07.016. Epub 2013 Aug 29. 93(3): 482-495, Sep 5 2013.

Clarke C, Xiao R, Place E, Zhange Z, Sondheimer N, Bennett MJ, Yudkoff M, Falk MJ (2013): Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites. Molecular Genetics and Metabolism. 110(1-2): 145-152, Sept-Oct 2013 Notes: http://dx.doi.org/10.1016/j.ymgme.2013.07.011. doi: 10.1016/j.ymgme.2013.07.011. Epub 2013 Jul 19.

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Last updated: 07/17/2014
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