Perry B. Shieh

Also affiliated with University of California, Los Angeles, UCLA Health, UCLA Medical Center, University of California System, Gene Therapy Laboratory, Children's Hospital Colorado, University of Colorado Denver

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

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 14 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

Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy

Neurology(2024)10.1212/wnl.0000000000208112

N/A

1.5DataRank · unranked

71 citations

Jesse M. Damsker, Michela Guglieri, Paula R. Clemens, Seth J. Perlman, Edward C. Smith +39 more

Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing

Neuropathology(2020)10.1111/neup.12641

N/A

0.360DataRank · unranked

10 citations

Négar Khanlou, Hane Lee, Rebecca Signer, Perry B. Shieh, Johnathan Chen +6 more

Switching to subcutaneous zilucoplan from intravenous complement component 5 inhibitors in generalised myasthenia gravis: a phase IIIb, open-label study

Therapeutic Advances in Neurological Disorders(2025)10.1177/17562864251347283

N/A

0.344DataRank · unranked

6 citations

Urvi Desai, Raghav Govindarajan, Min Kyun Kang, Shaida Khan, Bhupendra Khatri +11 more

Strength and functional correlates of reachable workspace in facioscapulohumeral muscular dystrophy

Neuromuscular Disorders(2025)10.1016/j.nmd.2025.105279

N/A

0.165DataRank · unranked

2 citations

Maya N. Hatch, Michael P. McDermott, William B. Martens, Katy Eichinger, Leann Lewis +14 more

Health related quality of life in young, steroid-naïve boys with Duchenne muscular dystrophy

Neuromuscular Disorders(2021)10.1016/j.nmd.2021.06.001

N/A

0DataRank · unranked

8 citations

Elaine McColl, Michael McDermott, William B. Martens, Michela Guglieri, Robert C. Griggs +42 more

Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI

Neurology(2022)10.1212/wnl.0000000000200757

N/A

0DataRank · unranked

29 citations

Per Widholm, Markus Karlsson, André Ahlgren, Rabi Tawil, Kathryn R. Wagner +14 more

Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)

Journal of Neuromuscular Diseases(2023)10.3233/jnd-221560

N/A

0DataRank · unranked

64 citations

Basil T. Darras, Jerry R. Mendell, John W. Day, Nancy L. Kuntz, Anne M. Connolly +12 more

Effects of gene replacement therapy with resamirigene bilparvovec (AT132) on skeletal muscle pathology in X-linked myotubular myopathy: results from a substudy of the ASPIRO open-label clinical trial

EBioMedicine(2023)10.1016/j.ebiom.2023.104894

N/A

0DataRank · unranked

10 citations

Benedikt Schoser, Marta Margeta, Caroline A. Sewry, Karra A. Jones, Perry B. Shieh +34 more

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00900-3

N/A

0DataRank · unranked

31 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 more

Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America

Orphanet Journal of Rare Diseases(2024)10.1186/s13023-024-03429-x

N/A

0DataRank · unranked

10 citations

Hyung Jun Park, Atchayaram Nalini, Dipti Baskar, Kiran Polavarapu, Hacer Durmuş +17 more

A Combined Prospective and Retrospective Comparison of Long-Term Functional Outcomes Suggests Delayed Loss of Ambulation and Pulmonary Decline with Long-Term Eteplirsen Treatment

Journal of Neuromuscular Diseases(2021)10.3233/jnd-210665

N/A

0DataRank · unranked

52 citations

for the investigators from the LNMRC Natural History study, for the investigators from the CINRG Duchenne National History Study, for the investigators from The DMD Italian Group, Hoda Abdel‐Hamid, Barry J. Byrne +13 more

Circulating protein biomarkers identified in two independent clinical trial cohorts of glucocorticoid-naive Duchenne muscular dystrophy patients.

Scientific Reports(2025)10.1038/s41598-025-23758-6

N/A

0DataRank · unranked

3 citations

Rebecca Tobin, C. Degan, Ahmed Naveed, Michela Guglieri, Albert Jiménez-Requena +88 more

Genotype–phenotype correlations and novel molecular insights into the DHX30 -associated neurodevelopmental disorders

medRxiv(2020)10.1101/2020.09.24.20196097

N/A

0DataRank · unranked

0 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 more