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Priya S. Kishnani

sumandeep vidyapeeth

75H-index
760Paper Count
2.3WCitation Count
Published Papers 406
Publication Date
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Comparison of Two Different Doses of Intrathecal Clonidine as Adjuvant to Hyperbaric Levobupivacaine for Spinal Anaesthesia in Femur Fracture Surgeries: A Randomised Triple-blind Clinical Study
errJournal of Clinical and Diagnostic Research
IF0.2
err2026-02-01
err0
PREAI
errPatel, Jatin; Jain, Radhika; Kishnani, Priya; Shah, Charmi
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Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease
erreBioMedicine
IF10.8
err2026-01-02
err0
errOAAI
errNeha Regmi; Bijan Abar; Jeong-A Lim; Daniel Kenney-Jung; Michael Malinzak; Kristen A. Hagarty-Waite; Karra A. Jones; Seung-Hye Jung; Ashlee R. Stiles; Rebecca L. Koch; Priya S. Kishnani
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Systemic Disease Progression and Neurodegeneration in the Gbe1ys/ys Mouse Model of Glycogen Storage Disease IV
errThe American Journal of Pathology
IF0
err2025-12-15
err0
PREAI
errSu Jin Choi; Rebecca L. Koch; Rebecca A. Gibson; Fiona E. Weaver; Yadav Adhikari; William Eisner; Aarav Mehta; William R. Jeck; Jeong-A Lim; Priya S. Kishnani
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Predicting subtypes of glycogen storage disease type IV: Challenges of hepatic subtypes and genotype-phenotype correlation
errMolecular Genetics and Metabolism
IF3.5
err2025-11-24
err0
PREAI
errAnne Taylor; Desale Yacob; Bonita Fung; Shamlal Mangray; Daniel R. Boué; Kevin M. Flanigan; Rebecca L. Koch; Priya S. Kishnani; Deeksha Bali; Alexander Weymann; Mari Mori
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Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease
errJIMD Reports
IF1.8
err2025-11-24
err0
errOAAI
errKhazzeka, Alicia; Koch, Rebecca L.; Lim, Jeong-a.; Ward, Jeremy D.; Doxey, Jessica; Jeck, William R.; Kishnani, Priya S.
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errSave
Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2
errScience Advances
IF12.5
err2025-11-12
err0
PREAI
errRebecca A. Gibson; William R. Jeck; Rebecca L. Koch; Neha Jumani; Su Jin Choi; Deeksha Bali; Sarah P. Young; Aravind Asokan; Jeong-A Lim; Priya S. Kishnani
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errSave
PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia
errnpj Genomic Medicine
IF4.8
err2025-11-10
err0
errOAAI
errRebecca L. Koch; Angie H. Fares; Benjamin T. Cocanougher; Jamie Lim; Andrea B. Haijer-Schreuder; Terry G. J. Derks; Sarah C. Grünert; Reena Sharma; Karra A. Jones; Priya S. Kishnani
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The Detection of Down Syndrome Arthritis in Clinical Practice: A Multicenter, International Pilot and Feasibility Study of a Down Syndrome-Specific Musculoskeletal Screening Tool
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-11-01
err0
PREAI
errJones, Jordan T.; Talib, Nasreen; Cramer, Emily; Valentini, Diletta; Baumer, Nicole; Sargado, Sabrina; Oreskovic, Nicolas M.; Santoro, Stephanie L.; Krell, Kavita; Santoro, Jonathan D.; Vellody, Kishore; Mccormick, Andrew; Franklin, Catherine; Kishnani, Priya; Hart, Sarah; Spiridigliozzi, Gail; Kitchen, Jacqueline; Skotko, Brian G.
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errSave
Revisiting the Genetics of Hypophosphatasia
errJournal of Inherited Metabolic Disease
IF3.8
err2025-10-05
err0
errOAAI
errPriya S. Kishnani; Catherine Rehder; Keiichi Ozono; Jordi Pérez-López; Guillermo del Angel; William R. Mowrey; Meena Balasubramanian; Wolfgang Högler; Eric T. Rush
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errSave
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants
errJOURNAL OF BONE AND MINERAL RESEARCH
IF5.9
err2025-10-01
err0
errOAAI
errMontero-Lopez, Rodrigo; Farman, Mariam R.; Hogler, Florian; Rehder, Catherine; Malli, Theodora; Webersinke, Gerald; Rockman-Greenberg, Cheryl; Dahir, Kathryn; Martos-Moreno, Gabriel Angel; Linglart, Agnes; Ozono, Keiichi; Seefried, Lothar; del Angel, Guillermo; Nading, Erica Burner; Huggins, Erin; Rush, Eric T.; Tauer, Josephine T.; Kishnani, Priya S.; Hogler, Wolfgang
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errSave
Infantile-onset Pompe disease entering adulthood: insights from two decades of enzyme replacement therapy experience.
errGenetics in Medicine
IF6.2
err2025-09-23
err0
PREAI
errNeha Regmi; Daniel Kenney-Jung; Grace Stafford; Michael Malinzak; Gail A. Spiridigliozzi; Tracy Boggs; Rebecca L. Koch; Phillip Brian Smith; Laura E. Case; Sarah P. Young; Harrison N. Jones; Priya S. Kishnani
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errSave
Quantitative muscle ultrasound as a window into disease progression in infantile-onset Pompe disease
errMolecular Genetics and Metabolism
IF3.5
err2025-09-18
err0
PREAI
errNeelam Makhijani; Myriam Boueri; Bijan Abar; Tracy Boggs; Laura E. Case; Natalia L. Gonzalez; Lisa D. Hobson-Webb; Sarah P. Young; Priya S. Kishnani
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errSave
Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial
errJournal of Neurology
IF4.6
err2025-08-16
err0
errOAAI
errPriya S. Kishnani; Jordi Díaz-Manera; Sergey Illarioshkin; Ans T. van der Ploeg; Paula R. Clemens; John W. Day; Antonio Toscano; Hani Kushlaf; Shafeeq Ladha; Shahram Attarian; Gerson Carvalho; Anna Kostera-Pruszczyk; Sevim Erdem-Özdamar; Ozlem Goker-Alpan; Tahseen Mozaffar; Volker Straub; Mark Roberts; Kristina An Haack; Olivier Huynh-Ba; Swathi Tammireddy; Magali Periquet; Nathan Thibault; Tianyue Zhou; Mazen M. Dimachkie; Benedikt Schoser
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errSave
Navigating the Emotional and Practical Challenges of Newborn Screening for Late-Onset Pompe Disease: Insights from Parental Perspectives
errPediatric Neurology
IF2.1
err2025-08-12
err0
PREAI
errMyriam Boueri; Allison Paltzer; Erin Huggins; Ellen Linebaugh; Debera Zvejnieks; Jessica Doxey; Gail Spiridigliozzi; Seung-Hye Jung; Priya S. Kishnani
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In memoriam: Stephen G. Kahler, MD
errMolecular Genetics and Metabolism
IF3.5
err2025-08-05
err0
PREAI
errJohan L.K. Van Hove; Priya S. Kishnani; David S. Millington; Dietrich Matern; Ayesha Ahmad
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errSave
Correction: Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry
errJournal of Neurology
IF4.6
err2025-07-31
err0
errOAAI
errKenneth I. Berger; Yin-Hsiu Chien; Alberto Dubrovsky; Priya S. Kishnani; Juan C. Llerena; Edward Neilan; Mark Roberts; Bun Sheng; Julie L. Batista; Magali Periquet; Kathryn M. Wilson; Ans T. van der Ploeg
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The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa
errThe Journal of Pediatrics
IF0
err2025-05-29
err0
PREAI
errDavid Kronn; James Davison; Alexander Broomfield; Anaïs Brassier; François Labarthe; Si Houn Hahn; Satoko Kumada; Hirotaka Ohki; Sasapin Grace Prakalapakorn; Catherine Wilson; Kristina An Haack; Olivier Huynh-ba; Susan Richards; Susan Sparks; Swathi Tammireddy; Tianyue Zhou; Yin-Hsiu Chien; Priya S. Kishnani;
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Switching Enzyme Replacement Therapy for Late-Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL
errMUSCLE & NERVE
IF3.1
err2025-05-07
err0
errOAAI
errHani Kushlaf; Jordi Díaz-Manera; Drago Bratkovic; Barry J. Byrne; Kristl G. Claeys; Paula R. Clemens; Mazen M. Dimachkie; Priya S. Kishnani; Pascal Laforêt; Mark Roberts; Benedikt Schoser; Antonio Toscano; Jeff Castelli; Fred Holdbrook; Sheela Sitaraman Das; Mitchell Goldman; Tahseen Mozaffar; the PROPEL Study Group
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errSave
Challenges in Gaucher disease: Perspectives from an expert panel
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-05-01
err0
PREAI
errGrabowski, Gregory A.; Kishnani, Priya S.; Alcalay, Roy N.; Prakalapakorn, S. Grace; Rosenbloom, Barry E.; Tuason, Dominick A.; Weinreb, Neal J.
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errSave
Exploring the use of the National Institutes of Health Toolbox Cognition Battery with children and adolescents with Pompe disease: Preliminary findings
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-03-01
err0
PREAI
errSpiridigliozzi, Gail A.; Regmi, Neha; Zimmerman, Kanecia; Stefanescu, Mihaela; Jung, Seung-Hye; Kishnani, Priya S.
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Research Directions

No research directions
Co-authors
Cooperation Journals
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Rohit Loomba
H-index: 154 · Papers: 1.3K
R
Richard Eastell
H-index: 133 · Papers: 1.1K
M
Mark A. Tarnopolsky
H-index: 129 · Papers: 889
W
Wendy K. Chung
H-index: 127 · Papers: 1.3K
M
Mary‐Claire King
H-index: 109 · Papers: 475
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