Rebecca Ganetzky, MD, DABMG

Medical School

MD – Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH

Residency

Combined Residency: Pediatrics and Genetics - Children's Hospital of Philadelphia, Philadelphia, PA (Chief Resident)

Fellowship

Clinical Biochemical Genetics - Children's Hospital of Philadelphia, Philadelphia, PA
Genetics Research Fellow - Children's Hospital of Philadelphia, Philadelphia, PA

Board Certification

Clinical Biochemical Genetics
Clinical Genetics
Pediatrics

Papers

2019

Coci EG, Gapsys V, Shur N, Shin-Podskarbi Y, de Groot B, Miller K, Vockley J, Sondheimer N, Ganetzky R and  Freisinger P: Pyruvate carboxylase deficiency type A and type C: characterization of 5 novel pathogenic variants in PC and analysis of the accompanying genotype-phenotype correlation. Human Mutation Epub Ahead of Print, Mar 2019.

Ganetzky R, Stendel C, McCormick E, Zolkipli-Cunningham Z, Goldstein, A, Klopstock T, Falk MJ: MT-ATP6 Mitochondrial Disease Variants: Phenotypic and biochemical feature analysis in 218 published cases and cohort of 14 new cases. Human Mutation Epub Ahead of Print, Feb 2019.

2018

Ahrens-Nicklas RC*, Ganetzky RD*, Rush PW, Conway RL, Ficicioglu C: Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening. Journal of Inherited Metabolic Disease epub ahead of print, 2018.

Ganetzky RD, Falk MJ. 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease. Mol Genet Metab. 2018 Mar;123(3):301-308. doi: 10.1016/j.ymgme.2018.01.010. Epub 2018 Feb 2.

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. Hum Mol Genet. 2018 Jun 18. doi: 10.1093/hmg/ddy231. [Epub ahead of print]

2016

Ganetzky, R. D.,Bloom, K.,Ahrens-Nicklas, R.,Edmondson, A.,Deardorff, M. A.,Bennett, M. J.,Ficicioglu, C. "ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis." JIMD Reports. 2016 Feb 28

Ng BG,  Shiryaev SA, Rymen D,  Elkund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Alina M, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Demmer LA, Diogo L, Fay AJ, Ficicipglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yapilito-Lee J, Nickerson DA, Peters HL, Race V, Regal L, Rush JS, Rutledge SL, Shendure J, University of Washington Center for Mendelian Genomics, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vollo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC, Matthijs G, Freeze HH.  : ALG1-CDG: Clinical and molecular characterization of 39 unreported patients.   Human Mutation 37(7): 653-660, 2016.

Bates C, Gordon L, Travis E, Chatterjee A, Chaudron L, Fivush B, Gulati M, Jagsi R, Sharma P, Gillis M, Ganetzky R, Grover A, Lautenberger D, Moses A.:  Striving for Gender Equality in Academic Medicine: A Call to Action.  Acad Med. 2016; 91(8):1050-2 Acad Med.  91(8): 1050-1052, 2016.

2015

Zarate YA, Bosanko KA, Bhoj E, Ganetzky R, Starr LJ, Zackai EH, Schaefer GB: Phenotypic Modifications of Patients with Full Chromosome Aneuploidies and Concurrent Suspected or Confirmed Second Diagnoses. Am J Med Genet A.  2015; 167A(9), 2168-75 Am J Med Genet A.   167A(9): 2168-2175, 2015.

Kruszka P, Uwineza A, Martinez AF, Abe Y, Zackai EH, Ganetzky R, Chung B, Stevenson R, Adelstein RS, Ma X, Mullikan JC, Hong SK, Muenke M. : Mutations in IQ Motif Containing K (IQCK) is a cause of Limb Body Wall Complex.  Mol Genet Genomic Med 3(5): 424-432, 2015.

Ganetzky RD, Finn E, Bagchi A, Zollo O, Conlin L, Deardorff MA, Harr MH, Simpson MA, McGrath J, Zackai EH, Lemmon M, Sondheimer N. : EGFR Mutations Cause a Lethal Syndrome of Epithelial Dysfunction with Progeroid Features. Mol Genet Genomic Med 3(5): 452-458, 2015.

Kruszka, P., Unwineza, A., Mutesa, L., Martinez, A.F., Yu, A., Zackai, E.H., Ganetzky, R., Chung, B., Stevenson, R.E., Adelstein, R.S., Ma, X., Mullikin, J.C., Sung-Kook, H, Muenke, M.: Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing k (IQCK)? Mol Genet Genomic Med 3(f): 424-432, Sep 2015.

2014

Wenger T, Harr M, Ricciardi S, Bhoj E, Santani A, Adam M, Ganetzky R, McDonald-McGinn D, Bigoni S, Selicorni A, Sorge G, Mari F, Andreucci E, Cocchi G, Savasta S, Malbora B, Dubbs H, Marangi G, Garavelli L, Zollino M, Zackai E.: CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.  Am J Med Genet A  164A: 2557-2566. 2014.

2011

Feng X, Scheinberg P, Wu CO, Samsel L, Nunez O, Prince C, Ganetzky RD, McCoy JP Jr, Maciejewski JP, Young NS.: Cytokine signature profiles in acquired aplastic anemia and myelodysplastic syndromes.  Haematologica 96(4): 602-606, 2011.

2010

Sekeres MA, List AF, Cuthbertson D, Paquette R, Ganetzky R, Latham D, Paulic K, Afable M, Saba HI, Loughran TP Jr, Maciejewski JP: A Phase I Combination Trial of Lenalidomide and Azacitidine in Patients with Higher-risk Myelodysplastic Syndromes.  J Clin Oncol 28(13): 2253-2258, 2010.

Ko M, Huang Y, Jankowska AM, Pape UJ, Tahiliani M, Bandukwala HS, An J, Lamperti ED, Koh KP, Ganetzky RD, Liu XS, Aravind L, Argawal S, Maciejewski JP, Rao A. Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2. Nature 468: 839-843, Dec 9 2010.

2009

Jankowska AM, Szpurka H, Tiu RV, Makishima H, Afable M, Huh J, O'Keefe CL, Ganetzky R, McDevitt MA, Maciejewski JM. : Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms.   Blood 113(25): 6403-6410, 2009.

2007

Garner CN, Ganetzky R, Brainard J, Hammel JP, Berber E, Siperstein AE, Milas M.: Increased prevalence of breast cancer among patients with thyroid and parathyroid disease.  Surgery 142(6): 806-813, 2007.

Books

Chapters

2019

Murali C & Ganetzky RD: Differential Diagnosis of Chronic FPIES from a Metabolism Perspective. Food-Protein Induced Enterocolitis Syndrome - Diagnosis and Management.  Dr. Terri Brown-Whitehorn & Dr. Antonella Cianferoni (eds.). Springer Nature, 2019.

Stojinski C & Ganetzky R: ECHS1 Deficiency - Genereviews. GeneReviews®  Adam MP, Ardinger HH, Pagon RA, et al. (eds.). University of Washington, Seattle, 2019.

Strong A & Ganetzky RD: Clinical Approach to Suspected Metabolic Disorders. Nelson Pediatrics Board Review. Dean T & Bell L (eds.). Page: 338-41, 2019.

Strong A & Ganetzky RD: Review of Selected Metabolic Disorders. Nelson Pediatrics Board Review. Dean T & Bell L (eds.). Elsevier, Page: 342-63, 2019.

2017

Ganetzky R, Reynoso J, He M. : "Congenital Disorders of Glycosylation".   Biomarkers in Inborn Errors of Metabolism: Clinical Aspects and Laboratory Determination, 1st edition. Elsevier Garg U, Smith LD  (eds.). Pages: 343-360. 2017.

2016

Ganetzky R, Ficicioglu C. : "Metabolism".   The Philadelphia Guide: Inpatient Pediatrics, 2nd edition, McGraw-Hill Shah SS, Catallozzi M, Zaoutis L, Frank G (eds.). January 2016.

2014

Ganetzky R, Ficicioglu C. : "Metabolism".   The Philadelphia Guide: Inpatient Pediatrics, 2nd edition, McGraw-Hill Shah SS, Catallozzi M, Zaoutis L, Frank G (eds.). January 2016.

Ganetzky R, Jaffe N: "Care of the Complex Child". Pediatric Primary Care: A Resident Survival Guide, 1st edition, Children's Hospital of Philadelphia,  Senthil K, Jensen B  (eds.). 2014.

Posters and Presentations

Invited Lectures

2018

Ganetzky R. "Next Generation Education: A Workshop on Interactive Educational Design", ACMG Annual Meeting, Charlotte, NC. Apr, 2018.

2017

Ganetzky R. "Update on Newborn Screening and Early Diagnosis: Improved Survival and Quality of Life", Children's Hospital of Philadelphia, Annual Advances in Neonatal-Perinatal Medicine Symposium. Oct, 2017.

Ganetzky R. "Translational Research in Mitochondrial Disease", CHOP Translational Research Workshop for Basic Scientists. Oct, 2017.

Ganetzky R. "Complex V Disease: Mutations, Functions, and Models", CHOP/Penn Mitochondrial Research Affinity Group 2nd Annual Retreat, Morris Arboretum. Apr, 2017.