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J

Jaya Ganesh

icahn school of medicine at mount sinai

22H-index
141Paper Count
2.6KCitation Count
Published Papers 47
Publication Date
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Homozygosity for a Clinically Significant GALC Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling
errInternational Journal of Neonatal Screening
IF4
err2026-07-30
err0
errOAAI
errDaniel R. Schecter; Colleen Donnelly; Amy White; Hillary Raynes; Gordon Heller; Deepa Rajan; Carlos A. Saavedra-Matiz; Joseph Orsini; Jaap-Jan Boelens; Dietrich Matern; Jaya Ganesh
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Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes
errMolecular Genetics and Metabolism
IF3.5
err2026-01-07
err0
PREAI
errSteven H. Lang; Naiga Cottingham; Colleen Donnelly; Sarah Risen; Rossana Malatesta Muncher; Eileen D. Brewer; Jeffery M. Saland; Corrine Benchimol; Fernando Scaglia; Jaya Ganesh
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errSave
Correlation of plasma Lyso-GL1 levels with clinical phenotype and treatment decisions in patients with Gaucher disease
errMolecular Genetics and Metabolism
IF3.5
err2025-11-02
err0
errOAAI
errChloe Cheung; Luca Fierro; Catherine McDonough; Chanan Stauffer; Rachel Kaplan; Louise Bier; Chunli Yu; Rachel Evard; Jaya Ganesh; Manisha Balwani
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errSave
Correction: Donnelly et al. A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection. Int. J. Neonatal Screen. 2024, 10, 7
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 28
IF4
err2025-09-29
err0
errOAAI
errColleen Donnelly; Lissette Estrella; Ilona Ginevic; Jaya Ganesh
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errSave
Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency
errJournal of Inherited Metabolic Disease
IF3.8
err2025-09-12
err0
PREAI
errMaurizio Scarpa; George A. Diaz; Roberto Giugliani; Simon A. Jones; Eugen Mengel; Nathalie Guffon; Peter Witters; Jaya Ganesh; Nicole M. Armstrong; Shruti Srivastava; Yong Kim
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errSave
Heterozygosity in NPC may be associated with neurologic and systemic phenotypes
errFrontiers in Neurology
IF2.8
err2025-08-17
err0
errOAAI
errTatiana Brémovà-Ertl; Sabina Tahirovic; Silva Katušić Hećimović; Kyriakos Martakis; Marianne Rohrbach; Matthias Gautschi; Radhika Dhamija; Jaya Ganesh; Melinda Peters; Mark Walterfang; Susanne A. Schneider
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Long-Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open-Label Extension Studies
errJournal of Inherited Metabolic Disease
IF3.8
err2025-07-25
err0
errOAAI
errMarkey McNutt; Frank Rutsch; Rossana Sanchez Russo; Serena Gasperini; Spyros Batzios; Elisa Leão Teles; Anaïs Brassier; Jaya Ganesh; Andreas Schulze; Gregory M. Enns; Mattias Rudebeck
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errSave
Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE phase 1/2 randomized trial
errGenetics in Medicine
IF6.2
err2025-05-14
err0
PREAI
errCan Ficicioglu; Janet A. Thomas; Jaya Ganesh; David Kudrow; Melissa Lah; Wendy E. Smith; Jalé Güner; Sharon McDermott; Sagar A. Vaidya; Liz Wilkening; Harvey L. Levy
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errSave
The role of large language models in medical genetics
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-05-01
err0
PREAI
errMerdler-Rabinowicz, Rona; Omar, Mahmud; Ganesh, Jaya; Morava, Eva; Nadkarni, Girish N.; Klang, Eyal
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Children with chronic acid sphingomyelinase deficiency treated with olipudase alfa for 4+years show improvements or normalization in multiple disease manifestations: Final results of the ASCEND-Peds trial
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errScarpa, Maurizio; Diaz, George; Guigliani, Roberto; Mengel, Eugen; Guffon, Nathalie; Witters, Peter; Ganesh, Jaya; Armstrong, Nicole M.; Srivastava, Shruti; Kim, Yong
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Correlation of plasma LGL1 levels with clinical phenotype and treatment decisions in patients with Gaucher disease: Single site experience
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errCheung, Chloe; Fierro, Luca; Mcdonough, Catherine; Stauffer, Chanan; Kaplan, Rachel; Ganesh, Jaya; Evard, Rachel; Bier, Louise; Balwani, Manisha
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errSave
Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errHughes, Derralynn; Wilcox, William; Hopkin, Robert J.; Ganesh, Jaya; Bernat, John; Goker-Alpan, Ozlem; Nicholls, Kathy; Deegan, Patrick; Pahl, Madeleine; Whitley, Chester B.; Chen, Michael; Cao, Liching; Schreeb, Katharina H.
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Imaging improvement in acid sphingomyelinase deficiency on enzyme replacement therapy
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errSimpson, William L.; Ganesh, Jaya
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errSave
Long-term outcomes of imiglucerase treatment in children withGaucher disease type 1 or type 3 starting therapy before the age of2 years
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errMistry, Pramod K.; Carwile, Jenny L.; Burrow, Andrew; Ganesh, Jaya; Camelo Jr, Jose Simon; Hennermann, Julia B.; Batista, Julie L.; Oliveira-dos-Santos, Antonio; Perichon, Maria G.; Tantawy, Azza
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Use of dichloroacetate as novel therapy in ECHS1 deficiency
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errJacob, Neil; Ganesh, Jaya; LoPiccolo, Mary Kate; Ganetzky, Rebecca; Waite, Jessica; Elsharkawi, Ibrahim
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errSave
Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-02-01
err2
PREAI
errHopkin, Robert J.; Ganesh, Jaya; Bernat, John; Goker-Alpan, Ozlem; Nicholls, Kathleen; Pahl, Madeleine V.; Deegan, Patrick B.; Whitley, Chester B.; Hughes, Derralynn; Cao, Liching; Chen, Michael; Shiue, Lisa; Rojkjaer, Lisa; Wilcox, William R.
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errSave
Improvements in liver and lipid outcomes continue in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years with olipudase alfa in long-term clinical trials
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-02-01
err0
PREAI
errLachmann, Robin; Ganesh, Jaya; Giugliani, Roberto; Guffon, Nathalie; Mengel, Eugen; Scarpa, Maurizio; Wasserstein, Melissa; Aguiar, Mario; Armstrong, Nicole; Thurberg, Beth L.; Kumar, Monica
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A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection
errINTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
err2024-01-17
err1
errOAAI
errDonnelly, Colleen; Estrella, Lissette; Ginevic, Ilona; Ganesh, Jaya
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Characterization and thermal properties of lauryl alcohol-capric acid binary mixture with hybrid-nanoparticles as phase change material for vaccine storage applications
errJOURNAL OF ENERGY STORAGE
IF9.8
err2023-12-01
err6
PREAI
errKarthikeyan, K.; Mariappan, V.; Kalidoss, P.; Ganesh, J. Mohana Jai; Kishore, P. V. R. Nanda; Prathiban, S.; Anish, R.
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Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency
errELIFE
IF0
err2023-03-07
err2
errOAAI
errWebb, Bryn D.; Nowinski, Sara M.; Solmonson, Ashley; Ganesh, Jaya; Rodenburg, Richard J.; Leandro, Joao; Evans, Anthony; Vu, Hieu S.; Naidich, Thomas P.; Gelb, Bruce D.; DeBerardinis, Ralph J.; Rutter, Jared; Houten, Sander M.
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Research Directions

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Co-authors
Cooperation Journals
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Terho Lehtimäki
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Håkon Håkonarson
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Michael O’Donovan
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M
Markus M. Nöthen
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P
Patrick F. Sullivan
H-index: 160 · Papers: 1.1K
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