Marni Joy Falk, MD

    • Department: Pediatrics
    • Division: Human Genetics and Molecular Biology
    • Email: falkm@email.chop.edu
    • Primary Address:
      The Children's Hospital of Philadelphia
      ARC 1002c
      3615 Civic Center Blvd
      Philadelphia, PA 19104
    • 215-590-4564

      Expertise

      Mitochondrial disease

      Appointments

      Assistant Professor of Pediatrics at the Children's Hospital of Philadelphia (2006 – present)

      Education

      MD, Medicine, The George Washington University School of Medicine (2000)
      BS, Biology, The George Washington University (1996)

      Selected Publications

      Robin NH, Falk MJ.. Craniosynostosis syndromes (FGFR-related).. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online).. .
      Genomic analysis for cryptic rearrangements in phenotypically abnormal children with familial balanced translocations.. 44th Short Course in Medical & Experimental Mammalian Genetics, Bar Harbor, ME. .
      Robin NH, Falk MJ, Haldeman-Englert CR. FGFR-related Craniosynostosis Syndromes. in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online].. (updated [2003, 2005, 2007).
      Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK. The in-depth evaluation of suspected mitochondrial disease.. Molecular Genetics and Metabolism. Vol 94(`) . 1008:16-37.
      Evaluation of two cryopreservation methods for Rhnull red blood cells.. 1996.
      Evaluation of two cryopreservation methods for Rhnull red blood cells.. 1996.
      Chimera detection after mismatched peripheral blood stem cell transplants.. 1997.
      Chimera detection after mismatched peripheral blood stem cell transplants.. 1997.
      Kupferman MJ, Cipolone KM, Procter JL, Stroncek DS.. Comparison of tube and gel red blood cell agglutination techiques in chimera detection after hematopoietic stem cell transplant.. Immunohematology. Vol 14. 1998:63-67.
      Medical geneticists' duty to warn at-risk relatives for genetic diseases.. 2002.
      Cohen syndrome in the northeast Ohio Amish: support for locus homogeneity to chromosome 8q22-23.. 2003.
      Genomic analysis for cryptic rearrangements in phenotypically abnormal children with familial balanced translocations.. 2003.
      Genomic analysis for cryptic rearrangements in phenotypically abnormal children with familial balanced translocations.. 2003.
      Falk MJ, Heeger S, Lynch KA, DeCaro KR, Bohach D, Gibson KS, Warman ML.. Intravenous bisphosphonate therapy in children with osteogenesis imperfecta.. Pediatrics. Vol 111. 2003:573-578.
      Falk MJ, Dugan RB, O'Riordan MA, Matthews AL, Robin NH.. Medical geneticists' duty to warn at-risk relatives for genetic disease.. American Journal of Medical Genetics. Vol 20A. 2003:374-80.
      Robin NH, Falk MJ.. Consultations & comments: Sequence or syndrome?. Consultant for Pediatricians. Vol 2. 2003:272.
      Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, Robin NH, Wilhelmsen KC, Traskelin AL, Kolehmainen J, Lehesjoki AE, Wiznitzer M, Warman ML.. Cohen syndrome in the Ohio Amish.. American Journal of Medical Genetics. Vol 128A(1) . 2004:23-8.
      Falk MJ, Robin NH.. The primary care practitioner's approach to congenital anomalies.. Genetics for Primary Care Clinics. Vol 31(3) . 2004:605-619.
      Falk MJ, Robin NH.. The physical examination in clinical genetics.. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics (Chapter 99).. Wiley Publishing Co.; 2004.
      Falk MJ, Curtis CA, Bass NE, Zinn AB, Schwartz S.. Maternal uniparental disomy chromosome 14: case report and literature review.. Pediatrics Neurology. Vol 32. 2005:116-20.
      Identification of Propionate Metabolic Genes in C. elegans: Functional Characterization of Methylmalonyl-CoA Mutase. (Presented by C.P. Venditti). 2005.
      Complex I respiratory chain dysfunction mediates volatile anesthetic sensitivity in Caenorhabditis elegans.. 2005.
      Complex I respiratory chain dysfunction mediates volatile anesthetic sensitivity in Caenorhabditis elegans.. 2005.
      Translational Genomic Study of Mitochondrial Complex I Dysfunction in C. elegans.. 2006.
      Falk MJ, Kayser EB, Morgan PG, Sedensky MM. Mitochondrial Complex I Function Modulates Volatile Anesthetic Sensitivity in C. elegans.. Current Biology. Vol 16(16) . 2006:1641-5.
      Chandler RJ, Aswani V, Tsai M, Howard R, Falk M, Wehrli N, Sedensky MM, Kazazian HH, Venditti CP. Propionyl-CoA and Cobalamin Metabolism in C. elegans: Evidence for a Role of Methylmalonyl-CoA Epimerase (Racemase).. in Intermediary Metabolism. Molecular Genetics and Metabolism. Vol 89(1-2) . 2006:64-73.
      Falk MJ, Wang H, Traboulsi EI.. Cohen Syndrome.. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online).. 2006.
      Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Cohen BH. Mitochondrial Disease: a practical approach for primary care physicians.. Pediatrics. Vol 120(6) . 2007:1326-33.
      Falk MJ, Zhang Z, Rosenjack RJ, Nissim I, Daikhin E, Nissim I, Sedensky MM, Yudkoff M, Morgan PG. Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans.. Molecular Genetics and Metabolism. 2008 Jan 4:[Epub ahead of print].
      Medne, L.. Array CGH uncovering cancer predisposition genes in children with syndromic presentations: important tool for genetic counseling and medical management.. American Society of Human Genetics 58th Annual Meeting, Philadelphia, PA. 2008.
      Falk MJ and NH Robin. Chapter 5: Classification of Birth Defects.. In: Medical Genetics: Its Application to Speech, Hearing, and Craniofacial Disorders.. Plural Publishing, Inc; 2008:(in press).
      Falk MJ. Genetic Counseling in Mitochondrial Disease.. In: Mito 101, United Mitochondrial Disease Foundation. 2008:(in press).
      Peng M*, Falk MJ*, Haase VH, King R, Polyak E, Selak M, Yudkoff M, Hancock WW, Meade R, Saiki R, Lunceford A, Clarke CF, Gasser DL. Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease.. PLoS Genetics. Vol 25(4) . 2008 4:e1000061.
      Falk MJ and NH Robin. Chapter 5: Classification of Birth Defects.. In: Medical Genetics Its Application to Speech, Hearing, and Craniofacial Disorders.. Plural Publishing, Inc.; 2008.
      Li, X.. “Towards understanding the significance of microduplications detected by genome-wide array analysis.. American College of Medical Genetics Tampa, FL. 2009.
      Falk, M.. Genome-wide SNP microarray analysis is a valuable clinical diagnostic tool for ophthalmologic disorders.. American College of Medical Genetics Annual Meeting, Tampa, FL. 2009.