JayaBGaneshMD

PubMed

• ScreenPlus: A comprehensive, multi-disorder newborn screening program.
  Kelly, N., Orsini, J., Goldenberg, A., Mulrooney, N., Boychuk, N., Clarke, M., Paleologos, K., Martin, M., McNeight, H., Caggana, M., Bailey, S., Eiland, L., Ganesh, J...> ;Molecular Genetics and Metabolism Reports. 2024 Mar 1
• A Case of-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection.
  Colleen Donnelly, Lissette Estrella, Ilona Ginevic, Jaya Ganesh> ;International Journal of Neonatal Screening. 2024 Jan 17
• 2 citations
  Recessive pathogenic variants incause combined oxidative phosphorylation deficiency.
  Bryn D Webb, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb, Ralph J DeBer...> ;Elife. 2023 Mar 7
• 7 citations
  Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).
  Valentina Emmanuele, Jaya Ganesh, Georgirene Vladutiu, Richard Haas, Douglas Kerr, Russell P Saneto, Bruce H Cohen, Johan L K Van Hove, Fernando Scaglia, Charles Hoppe...> ;Molecular Genetics and Metabolism. 2022 Jun 1
• 27 citations
  Mitochondrial diseases in North America: An analysis of the NAMDC Registry.
  Emanuele Barca, Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro, Bruce H. Cohen, Amel Karaa, Georgirene D. Vladutiu, Richard Ha...> ;Neurology. Genetics. 2020 Mar 2
• 3 citations
  The N370S/R496H genotype in type 1 Gaucher disease - Natural history and implications for pre symptomatic diagnosis and counseling.
  Natasha Zeid, Chanan Stauffer, Amy Yang, Hetanshi Naik, Luca Fierro, Jaya Ganesh, Manisha Balwani> ;Molecular Genetics and Metabolism Reports. 2020 Mar 1
• 11 citations
  Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features.
  Samin A. Sajan, Jaya Ganesh, Deepali N. Shinde, Zöe Powis, Maria I. Scarano, Jennifer Stone, Susan Winter, Sha Tang> ;Journal of Medical Genetics. 2019 Dec 1
• 21 citations
  De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
  M. Felicia Basilicata, Ange Line Bruel, Giuseppe Semplicio, Claudia Isabelle Keller Valsecchi, Tugce Aktas, Yannis Duffourd, Tobias Rumpf, Jenny Morton, Iben Bache, Wi...> ;Nature Genetics. 2018 Sep 17
• 17 citations
  Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
  Mark D. Levin, Karen W. Gripp, Tara L. Wenger, Jaya Ganesh, Jennifer M. Kalish, Michael R. Epstein, Rosemarie Smith, Richard J. Czosek, Stephanie M. Ware, Paula Golden...> ;American Journal of Medical Genetics. Part A. 2018 Aug 1
• 1 citations
  Response to Newman et al.
  Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, M...> ;Genetics in Medicine. 2017 Oct 26
• 179 citations
  Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
  Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel-Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, M...> ;Genetics in Medicine. 2017 Jul 27
• 56 citations
  Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders
  Jerry Vockley, Joel Charrow, Jaya Ganesh, George A. Diaz, Elizabeth McCracken, R. Conway, Gregory M. Enns, J. Starr, Raymond Y. Wang, Jose E. Abdenur, Joan Sanchez-de-...> ;Molecular Genetics and Metabolism. 2016 Nov 1
• 9 citations
  Fetal akinesia deformation sequence due to a congenital disorder of glycosylation
  Rebecca D. Ganetzky, Kosuke Izumi, Andrew C. Edmondson, Colleen Muraresku, Elaine H. Zackai, Matthew A. Deardorff, Jaya Ganesh> ;American Journal of Medical Genetics. Part A. 2015 Oct 1
• 52 citations
  Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
  Björn Fischer-Zirnsak, Nathalie Escande-Beillard, Jaya Ganesh, Yu Xuan Tan, Mohammed Al Bughaili, Angela E. Lin, Inderneel Sahai, Paulina Bahena, Sara L. Reichert, Abi...> ;American Journal of Human Genetics. 2015 Sep 3
• 61 citations
  De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes
  María Concepción Gil-Rodríguez, Matthew A. Deardorff, Morad Ansari, Christopher A. Tan, Ilaria Parenti, Carolina Baquero-Montoya, Lilian Bomme Ousager, Beatriz Puisac,...> ;Human Mutation. 2015 Apr 1
• 30 citations
  Practice patterns of mitochondrial disease physicians in North America. Part 1: Diagnostic and clinical challenges
  Sumit Parikh, Amy Goldstein, Mary Kay Koenig, Fernando Scaglia, Gregory M. Enns, Russell P. Saneto, Irina Anselm, Abigail Collins, Bruce H. Cohen, Suzanne D. DeBrosse,...> ;Mitochondrion. 2014 Jan 1
• Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management.
  Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Mitochondrial Medicine Society Clinical Directors Working Group, Clinical Director's Work Group> ;Mitochondrion. 2013-09-21
• 5 citations
  Liver Pathology in Infantile Mitochondrial DNA Depletion Syndrome
  Florette K. Hazard, Can Ficicioglu, Jaya Ganesh, Eduardo Ruchelli> ;Pediatric and Developmental Pathology. 2013 Sep 19
• 27 citations
  A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome
  Evangelia Sotiriou, Purificacion Gutierrez Rios, Jaya Ganesh, Rebecca Ichord, A. Reghan Foley, H. Orhan Akman, Salvatore DiMauro, Valentina Emmanuele> ;Journal of Child Neurology. 2013 Feb 1
• 26 citations
  Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood.
  Kristin D'Aco, Megan Manno, Colleen Clarke, Jaya Ganesh, Kevin E.C. Meyers, Neal Sondheimer> ;Pediatric Nephrology. 2013 Jan 22
• 38 citations
  Severe Combined Immunodeficiency Resulting From Mutations in MTHFD1
  Michael D. Keller, Jaya Ganesh, Meredith Lee Heltzer, Michele Paessler, A. G. Christina Bergqvist, H. Jorge Baluarte, David Watkins, David S. Rosenblatt, Jordan S. Orange> ;Pediatrics. 2013 Feb 1
• 19 citations
  Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.
  Guoli Wang, Jing Wang, Ganka Douglas, Marsha F. Browning, Sihoun Hahn, Jaya Ganesh, Sarah Cox, Kirk Aleck, Eric S. Schmitt, Wei Zhang, Lee-Jun C. Wong> ;Molecular Genetics and Metabolism. 2011 Aug 1
• 9 citations
  Significant liver disease in a patient with Y116H mutation in the MVK gene.
  Melissa Leyva-Vega, Pamela F. Weiss, Jaya Ganesh, Laura K. Conlin, Nancy B. Spinner, Randolph P. Matthews> ;American Journal of Medical Genetics. Part A. 2011 Jun 1
• 4 citations
  Unusual cardiac "masses" in a newborn with infantile pompe disease.
  Daniel T. Swarr, Beth D. Kaufman, Mark A. Fogel, Richard S. Finkel, Jaya Ganesh> ;JIMD Reports. 2011 Dec 13
• 43 citations
  Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband
  David Watkins, Jeremy Schwartzentruber, Jaya Ganesh, Jordan S. Orange, Bernard S. Kaplan, Laura Dempsey Nunez, Jacek Majewski, David S. Rosenblatt> ;Journal of Medical Genetics. 2011 Jan 1
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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
• 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
• 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
• 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
• 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
• 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
• 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