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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 Page: doi:pii: S1567-7249(13)00215-8, July 2013.

Clarke C, Xiao R, Place E, Zhange Z, Sondheimer N, Bennett MJ, Yudkoff M, Falk MJ: Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites. Molecular Genetics and Metabolism Page: doi:pii: S1096-7192(13)00256-4, July 2013.

Bannwarth 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, Paul Bonnefont J, Rötig A, Aoutil N, Gilleron M, Desquiret-Dumas V, Reynier P, Ceresuela J, Jonard L, Devos A, Espil-Taris C, Martinez D, Gaignard P, Le Quan Sang KH, Amati-Bonneau P, Falk MJ, Florentz C, Chabrol B, Durand-Zaleski I, Paquis-Flucklinger V: Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. J Med Genet July 2013.

Zhang Z, Tsukikawa M, Peng M, Polyak E, Nakamaru-Ogiso E, Ostrovsky J, McCormack S, Place E, Clarke C, Reiner G, McCormick E, Rappaport E, Haas R, Baur JA, Falk MJ: Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network. PLOS ONE 8(7): e69282, July 2013.

Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, Lacassie Y, Bialer M, Lamb AN, Schultz RA, Berry-Kravis E, Porter BE, Falk M, Venkat A, Vanzo RJ, Cohen JS, Fatemi A, Dobyns WB, Shaffer LG, Ballif BC, Marsh ED: MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics 14(2): 99-111, May 2013.

McCormick E, Place E, Falk MJ: Molecular genetic testing for mitochondrial disease: from one generation to the next. Neurotherapeutics 10(2), Apr 2013.

Falk MJ, Pierce EA, Consugar M, Xie MH, Guadalupe M, Hardy O, Rappaport EF, Wallace DC, LeProust E, Gai X: Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome. Discov Med 14(79), Dec 2012.

21. Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Birk Jensen U, Cochat P, Decramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton D, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand D, Eccles M, Schimmenti LA, Heidet L: Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus specific database. Human Mutation. Doi:10.1002/humu.22020. Dec 2012.

Schrier SA, Wong L-J, Place E, Ji JQ, Pierce EA, Golden J, Santi M, Anninger W, Falk MJ : Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts. Discovery Medicine. 69: 143-150, Feb 2012.

Polyak E, Zhang Z, Falk MJ: Molecular profiling of mitochondrial dysfunction in Caenorhabditis elegans. Methods in Molecular Biology 837: 241-255, 2012.

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Last updated: 08/13/2013
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