Jaya B Ganesh MD

PubMed

• Correlation of Plasma Lyso-GL1 Levels with Clinical Phenotype and Treatment Decisions in Patients with Gaucher Disease.
  Chloe Cheung, Luca Fierro, Catherine McDonough, Chanan Stauffer, Rachel Kaplan
  Molecular Genetics and Metabolism. 2025-11-02
• Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency.
  Maurizio Scarpa, George A Diaz, Roberto Giugliani, Simon A Jones, Eugen Mengel
  Journal of Inherited Metabolic Disease. 2025-09-01
• Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE phase 1/2 randomized trial.
  Can Ficicioglu, Janet A Thomas, Jaya Ganesh, David Kudrow, Melissa Lah
  Genetics in Medicine. 2025-08-01

Journal Articles

• Nonreentrant Atrial Tachycardia Occurs Independently of Hypertrophic Cardiomyopathy in RASopathy Patients  
  Karen W Gripp, Rosemarie Smith, Stephanie M Ware, Paula Goldenberg, Kathryn C Chatfield, Mark D Levin, Richard J Czosek, Elaine H Zackai, Angela E Lin, Tara L Wenger, ..., American Journal of Medical Genetics Part A
• Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society  
  Parikh S, Goldstein A Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesem..., Genet Med, 1/27/2017
• Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders  
  Vockley J, Charrow J, Ganesh J, Eswara M, Diaz GA, McCracken E, Conway R, Enns GM, Starr J, Wang R, Abdenur JE, Sanchez-de-Toledo J, Marsden DL, Mol Genet Metab., 1/1/2016
• Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa  
  Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choud..., Am J Hum Genet., 1/1/2015
• Fetal akinesia deformation sequence due to a congenital disorder of glycosylation  
  Ganetzky R, Izumi K, Edmondson A, Muraresku CC, Zackai E, Deardorff M, Ganesh J, Am J Med Genet A, 1/1/2015
• Liver pathology in infantile mitochondrial DNA depletion syndrome  
  Hazard, F.K., Ficicioglu, C.H., Ganesh, J., Ruchelli, E.D., Pediatr Dev Pathol, 1/1/2013
• Mitochondrial tRNA (Phe) mutation as a cause of end-stage renal disease in childhood  
  D'Aco, K.E., Manno, M., Clarke, C., Ganesh, J., Meyers, K.E., Sondheimer, N, Pediatr Nephrol, 1/1/2013
• A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome  
  Emmanuele, V., Sotiriou, E., Rios, P.G., Ganesh, J., Ichord, R., Foley, A.R., Akman, H.O., DiMauro, S, J C Neurol, 1/1/2012
• Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband  
  Watkins, D., Schwartzentruber, J.A., Ganesh, J., Orange, J.S., Kaplan B.S., Nunez, L.D., Majewski, J., Rosenblatt, D.S., J Med Genet, 1/1/2011
• Significant liver disease in a patient with Y116H mutation in the MVK gene  
  Leyva-Vega, M., Weiss, P.F., Ganesh, J., Conlin, L., Spinner, N.B., Matthews, R.P., Am J Med Genet A, 1/1/2011
• Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis  
  Wang, G.L., Wang, J., Douglas, G., Browning, M., Hahn, S., Ganesh, J., Cox, S., Aleck, K., Schmitt, E.S., Zhang, W., Wong, L.J., Mol Genet Metab., 1/1/2011
• Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency  
  Coughlin, C.R., Krantz, I.D., Schmitt, E.S., Zhang, S., Wong, L.J., Kerr, D.S., Ganesh, J., Mol Genet Metab., 1/1/2010
• Microduplications of 16p112 are associated with schizophrenia  
  McCarthy, S.E., Makarov, V., Kirov, G., Addington, A.M., McClellan, J., Yoon, S., Perkins, D.O., Dickel, D.E., Kusenda, M., Krastoshevsky, O., Krause, V., Kumar, R.A.,..., Nat Genet, 1/1/2009
• Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia  
  Pena, A.H., Kaplan, P., Ganesh, J., Clevac, E., Marie Cahill, A, Pediatr Radiol, 1/1/2009
• Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations  
  Spinazzola, A., Santer, R., Akman, O.H., Tsiakas, K., Schaefer, H., Ding, X., Karadimas, C.L., Shanske, S., Ganesh, J., Di Mauro, S., Zeviani, M., Arch Neurol, 1/1/2008
• Complex management of a patient with a contiguous Xp114 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentat...  
  Deardorff, M.A., Gaddipati, H., Kaplan, P., Sanchez-Lara, P.A., Sondheimer, N., Spinner, N.B., Hakonarson, H., Ficicioglu, C., Ganesh, J., Markello, T., Loechelt, B., ..., Mol Genet Metab., 1/1/2008
• Molecular and clinical genetics of mitochondrial diseases due to POLG mutations  
  Wong, L.J., Naviaux, R.K., Brunetti-Pierri, N., Zhang, Q., Schmitt, E.S., Truong, C., Milone, M., Cohen, B.H., Wical, B., Ganesh, J., Basinger, A.A., Burton, B.K., Swo..., Hum Mutat, 1/1/2008
• Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene  
  Bornstein, B., Area, E., Flanigan, K.M., Ganesh, J., Jayakar, P., Swoboda, K.J., Coku, J., Naini, A., Shanske, S., Tanji, K., Hirano, M., DiMauro, S, Neuromuscul Disord, 1/1/2008
• The G13513A Mutation in the ND5 Gene of mtDNA is a Common Cause of MELAS or Leigh Syndrome: Evidence from 12 Cases  
  Shanske, S., Coku, J., Lu, J., Ganesh, J., Krishna, S., Tanji, K., Bonilla, E., Naini, A.B., Hirano, M., DiMauro, S., Arch Neurol, 1/1/2008
• What new information pediatric autopsies can provide: a retrospective evaluation of 100 consecutive autopsies using family-centered criteria  
  Feinstein, J.A., Ernst, L.M., Ganesh, J., Feudtner, C, Arch Pediatr Adolesc Med, 1/1/2007
• Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: a unique case of gamma-hydroxybutyric aciduria and William...  
  Knerr, I., Gibson, K.M., Ganesh, J., Bennett, M.J., Salomons, G.S., Jakobs, C., Myers, S.M., Am J Med Genet B Neuropsychiatr Genet, 1/1/2007
• Fasting c-peptide and insulin-like growth factor-binding protein-1 levels help to distinguish childhood type 1 and type 2 diabetes at diagnosis  
  Katz, L.E., Jawad, A.F., Ganesh, J., Abraham, M., Murphy, K., Lipman, T.H., Pediatr Diabetes, 1/1/2007
• Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency  
  Campbell, C.D., Ganesh, J., Ficicioglu, C., Haematologica, 1/1/2005
• Medical staff attitudes toward family member presence during pediatric emergency department procedures  
  Fein, J.A., Ganesh, J., Alpern, E.R., Pediatr Emerg Care, 1/1/2004
• Radio nuclide studies in the evaluation of urinary tract infections  
  Ganesh, J (Jaya G)., Bal, C.S., Padhy, A.K., Bandhopadhyaya, G.P., Pattnayak, S.K., Malathi, K.E., Indian Pediatr, 1/1/1996
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Books/Book Chapters

• "Treatment of Skin Disease - Comprehensive Therapeutic Strategies" 
  Chapter: Fabry Disease 
  Page 268 - 271Ganesh J, Schnur RE, Childs FEditors: Mark G Lebwohl, Warren Heymann, John Berth - Jones, Ian Coulson.ElsevierEdition 5th,2018
• "Mitochondrial Disorders Caused by Nuclear Genes" 
  Chapter: Mitochondrial Respiratory Chain Complex II 
  Page 203 - 218Ganesh Jaya, Wong Lee-Jun, Gorman EEditors: Lee -Jun C. Wong.Springer2012
• Intensive Care of the Fetus and Neonate 
  Chapter: Inborn Errors of Metabolism Presenting as a Catastrophic Disease 
  Yudkoff M, Payan I, Ganesh JEditors: Spitzer A.

Abstracts/Posters

• Research Diagnostic Criteria for Mitochondrial Disorders in adults and children: a proposal from the North American Mitochondrial Disease Consortium.
  Cohen B, Van Hove J, Scaglia F, Rosales X, Barca E, Buchsbaum R, Thompson JS, DiMauro S, Hirano M, and the North American Mitochondrial Disease Consortium (NAMDC), American Academy of Neurology Meeting, Los Angeles, CA, 1/1/2018
• Biallelic gene disrupting variants in PKDCC cause a skeletal disorder characterized by rhizomelic shortening of extremities and distinctive facial features.
  Sajan SA, Shinde DN, Powis Z, Ganesh J, Scarano MI Stone J, Winter S, Sha Tang S, Amercan College Medical Genetics Annual meeting, Charlotte, NC, 1/1/2018
• Atypical presentation of late onset Pompe Disease.
  Ganesh J, Scarano M, Hardiman M, Kishnani P, World Lysosomal Disorders Annual meeting, San Diego, CA, 1/1/2017
• Late-onset Pompe disease due to known and novel variants in GAA gene with possible contribution of a dystrophinopathy carrier state in a female patient.
  Veloso E, Ganesh J, Lacomis D, Campellone J, American Association of Neurology Meeting, Boston, MA, 1/1/2017
• Clinical, Biochemical, molecular findings and outcomes of 8 children with cobalamin C disease detected through newborn screening: 13 year experience.
  Clarke C, Li M, Payan I, Weiss B, Ganesh J, Kaplan P, Ficicioglu C, ICIEM meeting, Barcelona, Spain, 1/3/2013
• P5CS deficiency cutis laxa.
  Ganesh J, Sahai I, Lin A, Chadwick S, Zackai E, Bennett, M, Byers P, Schwarze, U, ASHG Annual meeting, Boston, MA, 1/1/2013
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Lectures

• Mitochondrial Disease- A tale of 2 genomes. 
  Department of Neurology Grand Rounds, SUNY Downstate Medical Center, Brooklyn, NY - 1/1/2017
• "Mitochondrial Diseases - An Overview" Department of Neurology and Medicine Grand Rounds 
  Department of Neurology and Medicine Grand Rounds, Government Stanley Medical College, Chennai, Indi - 1/1/2017
• "Newborn Screening- An overview" Neonatology Rounds 
  Our Lady of LourdesHhospital, Camden, NJ - 1/1/2015
• "Newborn screening - A public health initiative to be proud of" 
  Pediatric Endocrinology CME Conference, CHOP - 1/1/2014
• "Lysosomal Storage Disease." 
  Sociedad Mexicana de Pediatia 2da. Cumbre Nacional, Mexico City - 1/1/2013
• "Metabolic Disease Presenting as Medical Emergency." 
  Cumbre Nacional, Mexico City - 1/1/2013
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Other

• MITO 101 - Hematological aspects of mitochondrial disorders and their management. 
  Ganesh J, Thompson J, CD- ROM Publication sponsored by The UNITED MITOCHONDRIAL DISEASE FOUNDATION (UMDF)
  1/1/2008