Priya S. Kishnani

Also affiliated with Duke Medical Center

MedicineChemistryBiochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 26 papers. Top paper: “Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial”.

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

The Lancet Neurology(2021)10.1016/s1474-4422(21)00241-6

N/A

2.9DataRank · unranked

185 citations

Priya S. Kishnani, Hani Kushlaf, Shafeeq Ladha, Tahseen Mozaffar, Volker Straub +95 more

Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease

Neurology(2022)10.1212/wnl.0000000000200746

N/A

1.2DataRank · unranked

48 citations

Richard J. Barohn, Barry J. Byrne, Özlem Göker-Alpan, Priya S. Kishnani, Shafeeq Ladha +19 more

Three-dimensional tissue-engineered human skeletal muscle model of Pompe disease

Communications Biology(2021)10.1038/s42003-021-02059-4

N/A

1.0DataRank · unranked

38 citations

Chris J. Zhou, Alastair Khodabukus, Sabrina Tran, Sang-oh Han, Aaron L. Carlson +5 more

Targeted long-read sequencing identifies missing disease-causing variation

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.006

N/A

0.825DataRank · unranked

243 citations

Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson +45 more

104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)

Journal of Neurology(2024)10.1007/s00415-024-12236-0

N/A

0.803DataRank · unranked

28 citations

Priya S. Kishnani, Drago Bratkovic, Barry J. Byrne, Kristl G. Claeys, Jordi Díaz‐Manera +79 more

Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects

Prenatal Diagnosis(2023)10.1002/pd.6460

N/A

0.740DataRank · unranked

24 citations

Beltran Borges, Billie R. Lianoglou, Juan Gonzalez‐Velez, Emma Canepa, Dane Munar +9 more

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease

New England Journal of Medicine(2022)10.1056/nejmoa2200587

N/A

0.722DataRank · unranked

122 citations

Pranesh Chakraborty, Karen Fung‐Kee‐Fung, Marisa E. Schwab, Deeksha Bali, Sarah P. Young +16 more

Underrepresentation of Diverse Ancestries Drives Uncertainty in Genetic Variants Found in Cardiomyopathy-Associated Genes

JACC Advances(2023)10.1016/j.jacadv.2023.100767

N/A

0.457DataRank · unranked

20 citations

Alexandra M. Markunas, Priya S. Kishnani, Andrew P. Landstrom, Michael B. Rosamilia

Respiratory muscle training in late-onset Pompe disease: Results of a sham-controlled clinical trial

Neuromuscular Disorders(2020)10.1016/j.nmd.2020.09.023

N/A

0.457DataRank · unranked

20 citations

Maragatha Kuchibhatla, Kelly D. Crisp, Lisa D. Hobson‐Webb, Laura E. Case, Milisa T. Batten +4 more

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III

Molecular Genetics and Metabolism Reports(2021)10.1016/j.ymgmr.2021.100821

N/A

0.449DataRank · unranked

19 citations

Anna K. Paschall, Sarah P. Young, Brian P. Smith, Laura E. Case, Tracy Boggs +8 more

Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early‐Onset Lysosomal Storage Diseases

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2025)10.1002/ajmg.c.32132

N/A

0.447DataRank · unranked

13 citations

Emma Canepa, Irene J. Chang, Akos Herzeg, Billie R. Lianoglou, Priya S. Kishnani +4 more

An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation

Frontiers in Immunology(2024)10.3389/fimmu.2024.1360369

N/A

0.360DataRank · unranked

10 citations

Garima Shrivastava, Christina Grant, Raymond Wang, Trevor D. Burt, Priya S. Kishnani +1 more

Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study

Neurology Clinical Practice(2023)10.1212/cpj.0000000000200181

N/A

0.342DataRank · unranked

8 citations

Priya S. Kishnani, Cristina Ivanescu, Giulio Flore, Chad Gwaltney, Nadine A. M. E. van der Beek +8 more

PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia

npj Genomic Medicine(2025)10.1038/s41525-025-00527-y

N/A

0.104DataRank · unranked

1 citations

Angie H Fares, Ben Cocanougher, Jamie K. Lim, Andrea B. Haijer‐Schreuder, Terry G. J. Derks +5 more

Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103474

N/A

0DataRank · unranked

0 citations

Xue Zou, Jian Dai, R. A. Francis, Alexias Safi, Karynne Patterson +14 more

Behavioral, social and school functioning in children with Pompe disease

Molecular Genetics and Metabolism Reports(2020)10.1016/j.ymgmr.2020.100635

N/A

0DataRank · unranked

15 citations

Gail A. Spiridigliozzi, Mihaela Ştefănescu, Stephanie Austin, Priya S. Kishnani, Aditi Korlimarla

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

UNC Libraries(2020)10.17615/q0jc-dg05

N/A

0DataRank · unranked

0 citations

Marcia R. Gottfried, Priya S. Kishnani, Donald P. Frush, Deeksha Bali, Anne Boney +3 more

Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.10.002

N/A

0DataRank · unranked

7 citations

Aleena Khan, Syed Faaiz Enam, Tracy Boggs, Ghada Hijazi, Michael Bowling +4 more

Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.108119

N/A

0DataRank · unranked

22 citations

Aditi Korlimarla, Gail A. Spiridigliozzi, Walter F. Wiggins, Michael D. Malinzak, Gretchen Nichting +9 more

Screening data from 19 patients with late‐onset Pompe disease for a phase I clinical trial of AAV8 vector‐mediated gene therapy

JIMD Reports(2023)10.1002/jmd2.12391

N/A

0DataRank · unranked

2 citations

Laura E. Case, Edward C. Smith, Crista Walters, Deeksha Bali, Priya S. Kishnani +2 more

Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV

Molecular Genetics and Metabolism Reports(2024)10.1016/j.ymgmr.2024.101069

N/A

0DataRank · unranked

2 citations

Karis Kosar, Eriko Kishimoto, Loren Peña, Yilun Huang, Kaili Hao +8 more

Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103478

N/A

0DataRank · unranked

1 citations

Eleanor Rodriguez-Rassi, Suhag Parikh, Rossana Sanchez Russo, David Kronn, Jennifer Hamm +8 more

Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.05.14.654043

N/A

0DataRank · unranked

0 citations

Xue Zou, Jian Dai, R. A. Francis, Alexias Safi, Karynne Patterson +13 more

Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scores

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103455

N/A

0DataRank · unranked

0 citations

Rebecca L. Koch, Alisha Mavis, Leticia S. Flores, Rajan T. Gupta, William R. Jeck +13 more

Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2

Science Advances(2025)10.1126/sciadv.ady6760

N/A

0DataRank · unranked

0 citations

William R. Jeck, Rebecca L. Koch, Neha Jumani, Su Jin Choi, Deeksha Bali +5 more

A Race Against Time—Changing the Natural History of CRIM Negative Infantile Pompe Disease

Frontiers in Immunology(2020)10.3389/fimmu.2020.01929

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0DataRank · unranked

12 citations

Brian J. Shayota, Ankit K. Desai, Fuad Kiblawi, Dorothy Myridakis, John Messina +4 more