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Manisha Balwani

Department of Genetics and Genomic Sciences

40H-index
392Paper Count
6.0KCitation Count
Published Papers 115
Publication Date
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Erythropoietic protoporphyria life impact and genetic health trajectory (LIGHT) study in Europe: a cross-sectional online questionnaire
errOrphanet Journal of Rare Diseases
IF3.5
err2026-08-27
err0
errOAAI
errHetanshi Naik; Kristen Wheeden; Susan D. Mathias; Chelsea Norregaard; Adaeze Q. Amaefule; Melanie Chin; Manisha Balwani
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errSave
Bitopertin Shows Efficacy in Patients with Erythropoietic Protoporphyria: Results from the Randomized, Double-Blind, Placebo-Controlled AURORA Trial
errJournal of the American Academy of Dermatology
IF11.8
err2025-12-11
err0
errOAAI
errAmy K. Dickey; Herbert L. Bonkovsky; Manisha Balwani; Karl E. Anderson; Cynthia Levy; Manish Thapar; Bruce Wang; Melanie Chin; Will Savage; Robert Desnick; Siobán Keel
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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
The Burden of Erythropoietic Protoporphyria (EPP): Results From the EPP Life Impact and Genetic Health Trajectory (LIGHT) Study
errdermatology
IF0
err2025-08-09
err0
PREAI
errHetanshi Naik; Manisha Balwani; Hilary H. Colwell; Susan D. Mathias; Kristen Wheeden; Chelsea Norregaard; Melanie Chin; William Savage
errShare
errSave
Sebelipase Alfa Improves Aminotransferase Levels in Lysosomal Acid Lipase Deficiency: Data From an International Registry
errLiver International
IF5.2
err2025-08-08
err0
errOAAI
errLorenzo D'Antiga; Jennifer Evans; Emilio Ros; Florian Abel; Manisha Balwani; Don P. Wilson; William Balistreri
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errSave
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
Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-10-03
err1
errOAAI
errSardh, Eliane; Balwani, Manisha; Rees, David C.; Anderson, Karl E.; Jia, Gang; Sweetser, Marianne T.; Wang, Bruce
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errSave
Skin α-Synuclein Seeding Activity in Patients with Type 1 Gaucher Disease
errMOVEMENT DISORDERS
IF7.6
err2024-07-18
err0
errOAAI
errLopiccolo, Mary Kate; Wang, Zerui; Eshed, Gadi Maayan; Fierro, Luca; Stauffer, Chanan; Wang, Kelly; Zhang, Jing; Tatsuoka, Curtis; Balwani, Manisha; Zou, Wen-Quan; Alcalay, Roy N.
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errSave
Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry
errAMERICAN JOURNAL OF HEMATOLOGY
IF9.9
err2024-04-30
err1
errOAAI
errMistry, Pramod K.; Balwani, Manisha; Charrow, Joel; Lorber, Jeremy; Niederau, Claus; Carwile, Jenny L.; Oliveira-dos-Santos, Antonio; Perichon, Maria Gabriela; Uslu Cil, Sefika; Kishnani, Priya S.
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errSave
Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management
errLIVER INTERNATIONAL
IF5.2
err2024-04-15
err2
errOAAI
errBalwani, Manisha; Keel, Sioban; Meissner, Peter; Sonderup, Mark; Stein, Penelope; Yasuda, Makiko
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errSave
Regression of smoldering myeloma with treatment of Gaucher disease
errBLOOD ADVANCES
IF7.1
err2024-03-27
err2
errOAAI
errBarley, Kevin; Parekh, Anshuman; Salam, Syed; Mendu, Damodara Rao; Shukla, Ravi Prakash; Vatti, Deepa; Verina, Daniel; Stauffer, Chanan; Salib, Christian; El Jamal, Siraj; Teruya-Feldstein, Julie; Duffield, Amy S.; Leshchenko, Violetta V.; Jagannath, Sundar; Balwani, Manisha; Parekh, Samir
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errSave
Gaucher disease treatment reduces the progression of smoldering myeloma
errCANCER RESEARCH
IF16.6
err2024-03-22
err0
PREAI
errShukla, Ravi Prakash; Parekh, Anshuman; Leshchenko, Violetta V.; Barley, Kevin; Vatti, Deepa; Verina, Daniel; Balwani, Manisha; Parekh, Samir
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errSave
Age-specific risk of Parkinson disease and Parkinsonian syndrome in patients with Gaucher disease type 1: Real-world evidence from the International Collaborative Gaucher Group Gaucher Registry
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-02-01
err2
PREAI
errBalwani, Manisha; Mistry, Pramod K.; di Fonzo, Alessio Barnaba; Batista, Julie; Bianculli, Pablo; Carwile, Jenny L.; Perichon, Maria; Alcalay, Roy
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errSave
Update on the Porphyrias
errannual review of psychology
IF22.1
err2024-01-29
err7
PREAI
errDickey, Amy K.; Leaf, Rebecca Karp; Balwani, Manisha
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errSave
Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria
errJOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
IF11.8
err2023-12-01
err14
errOAAI
errDickey, Amy K.; Naik, Hetanshi; Keel, Sioban B.; Levy, Cynthia; Beaven, Simon W.; Elmariah, Sarina B.; Erwin, Angelika L.; Goddu, Robert J.; Hedstrom, Karli; Leaf, Rebecca K.; Kazamel, Mohamed; Mazepa, Marshall; Philpotts, Lisa Liang; Quigley, John; Raef, Haya; Rudnick, Sean R.; Saberi, Behnam; Thapar, Manish; Ungar, Jonathan; Wang, Bruce; Balwani, Manisha
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errSave
Reply: Iron supplementation in protoporphyrias
errHEPATOLOGY
IF15.8
err2023-10-20
err0
errOAAI
errLevy, Cynthia; Dickey, Amy K.; Anderson, Karl E.; Keel, Sioban B.; Balwani, Manisha
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errSave
Evidence-based consensus guidelines for the diagnosis and management of protoporphyria-related liver dysfunction in erythropoietic protoporphyria and X-linked protoporphyria
errHEPATOLOGY
IF15.8
err2023-07-27
err5
PREAI
errLevy, Cynthia; Dickey, Amy K.; Wang, Bruce; Thapar, Manish; Naik, Hetanshi; Keel, Sioban B.; Saberi, Behnam; Beaven, Simon W.; Rudnick, Sean R.; Elmariah, Sarina B.; Erwin, Angelika L.; Goddu, Robert J.; Hedstrom, Karli; Leaf, Rebecca Karp; Kazamel, Mohamed; Mazepa, Marshall; Philpotts, Lisa Liang; Quigley, John; Raef, Haya; Ungar, Jonathan; Anderson, Karl E.; Balwani, Manisha
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errSave
Lysosomal acid lipase deficiency manifestations in children and adults: Baseline data from an international registry
errLIVER INTERNATIONAL
IF5.2
err2023-05-24
err4
errOAAI
errBalwani, Manisha; Balistreri, William; D'Antiga, Lorenzo; Evans, Jennifer; Ros, Emilio; Abel, Florian; Wilson, Don P.
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errSave
The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158
errJOURNAL OF CLINICAL MEDICINE
IF2.9
err2023-05-04
err8
errOAAI
errMistry, Pramod K.; Kishnani, Priya S.; Balwani, Manisha; Charrow, Joel M.; Hull, Judy; Weinreb, Neal J.; Cox, Timothy M.
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errSave
Dersimelagon in Erythropoietic Protoporphyrias
errNEW ENGLAND JOURNAL OF MEDICINE
IF78.5
err2023-04-13
err14
PREAI
errBalwani, Manisha; Bonkovsky, Herbert L.; Levy, Cynthia; Anderson, Karl E.; Bissell, D. Montgomery; Parker, Charles; Takahashi, Fumihiro; Desnick, Robert J.; Belongie, Kirstine
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errSave

Research Directions

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Co-authors
Cooperation Journals
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Daniel I. Chasman
H-index: 149 · Papers: 736
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Jordan W. Smoller
H-index: 130 · Papers: 884
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Claude B. Sirlin
H-index: 128 · Papers: 774
A
Anthony H.V. Schapira
H-index: 127 · Papers: 902
M
Mark Lebwohl
H-index: 120 · Papers: 1.4K
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