faculty photo

Marni Joy Falk

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
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

Sharma S, Place E, Lord K, Leroy BP, Falk MJ, Pradhan M : Claudin-19 based familial hypomagnesemia with hypercalciuria and nephrcalcinosis (FHHNC) in a sibling pair. Clinical Nephrology. Clinical Nephrology. 85(6): 346-352, June 2016 Notes: doi: 10.5414/CN108783.

Koene S, Hendriks JC, Dirks I, de Boer L, de Vries MC, Janssen MC, Smuts I, Fung CW, Wong VC, de Coo IR, Vill K, Stendel C, Klopstock T, Falk MJ, McCormick EM, McFarland R, de Groot IJ, Smeitink JA: International Paediatric Mitochondrial Disease Scale. J. Inherit Metab Dis. [Epub ahead of print]. June 2016.

Shen L, Diroma MA, Gonzalez M, Navarro-Gomez D, Leipzig J, Lott MT, Oven MV, Wallace DC, Muraresku CC, Zolkipli-Cunningham Z, Chinnery PF, Attimonelli M, Zuchner S, Falk MJ*, Gai X* : MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Human Mutation. Jun;37(6):540-8. 37(6): 540-548, June 2016 Notes: doi: 10.1002/humu.22974. Epub 2016 Mar 21. *, Equal Contribution.

Madeo M, Stewart M, Sun Y, Sahir N, Wiethoff S, Chandrasekar I, Yarrow A, Rosenfeld JA, Yang Y, Cordeiro D, McCormick EM, Muraresku CC, Jepperson TN, McBeth LJ, Seidahmed MZ, El Khashab *, HY, Hamad M, Azzedine H, Clark K, Corrochano S, Wells S, Elting MW, Weiss MM, Burn S, Myers A, Landsverk M, Crotwell PL, Waisfisz Q, Wolf NI, Nolan PM, Padilla-Lopez S, Houlden H, Lifton R, Mane S, Singh BB, Falk MJ*, Mercimek-Mahmutoglu S*, Bilguvar K*, Salih MA*, Acevedo-Arozena A*, Kruer MC : Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. Am J Hum Genet. 98(6): 1249-1255, June 2016 Notes: doi: 10.1016/j.ajhg.2016.04.008. Epub 2016 May 26. *, equal contribution.

Falk MJ, Shen L, Gai X : MSeqDR, a knowledge repository to support submission, curation, and integrated analysis of genomic and variant data for mitochondrial diseases. Cold Spring Harbor Molecular Case Reports. 2(3): a001065, May 2016 Notes: doi: 10.1101/mcs.a001065.

Falk MJ, Gai X, Shigematsu M, Vilardo E, Takase R, McCormick E, Christian T, Place E, Pierce EA, Consugar M, Gamper HB, Rossmanith W, Hou YM: A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. RNA Biology. d 13(5): 477-485, May 2016 Notes: oi: 10.1080/15476286.2016.1159381. Epub 2016 Mar 7.

he circadian gene rev-erbα improves cellular bioenergetics and provides preconditioning for protection against oxidative stress. : Sengupta S, Yang G, O'Donnell JC, Hinson MD, McCormack SE, Falk MJ, La P, Robinson MB, Williams ML, Yohannes MT, Polyak E, Nakamaru-Ogiso E, Dennery PA Free Radic Biol Med. 93: 177-189, April 2016 Notes: Doi: 10.1016/j.freeradbiomed.2016.02.004. [Epub ahead of print].

Falk MJ, Decherney A, Kahn JP: Mitochondrial Replacement Techniques – Implications for the Clinical Community. New England Journal of Medicine 374(12): 1103-1106, March 2016 Notes: Epub 2016 Feb 24. Doi: 10.1056/NEJMp1600893.

Li D, Bhoj E, McCormick E, Wang F, Snyder J, Wang T, Zhao Y, Kim C, Chiavacci R, Tian L, Falk MJ, Hakonarson H: Early infantile epileptic encephalopathy in an STXBP1 patient with lactic acidemia and normal mitochondrial respiratory chain function. Case Reports in Genetics. . Page: 4140780, 2016 Notes: Doi:10.1155/2016/4140780. Epub 2016 Mar 16.

Gonzalez M, Falk MJ, Gai X, Postrel R, Schüle R, Zuchner S.: Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform. Hum Mutat 36(10): 590-596, Oct 2015 Notes: doi: 10.1002/humu.22836. [Epub ahead of print]

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Last updated: 07/27/2016
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