C. Anthony Rupar

Ambroxol as a novel disease-modifying treatment for Parkinson’s disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial

Carolina R. A. Silveira, Julia MacKinley, Kristy Coleman et al. · BMC Neurology · 2019 · 128 citations · Full text

Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels

Jennifer Kerkhof, Laila C. Schenkel, Jack Reilly et al. · Journal of Molecular Diagnostics · 2017 · 124 citations · Full text

Bioinformatics, Sequencing, Medicine +10

Lentivirus-mediated gene therapy for Fabry disease

Dwayne L. Barber, Ju Huang, C. Anthony Rupar et al. · Nature Communications · 2021 · 115 citations · Full text

Exome sequencing identifies <i><scp>NFS</scp>1</i> deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex <scp>II</scp>/<scp>III</scp> deficiency

Sali M.K. Farhan, Jian Wang, John F. Robinson et al. · Molecular Genetics & Genomic Medicine · 2013 · 91 citations · Full text

The Cost-Effectiveness of Expanding Newborn Screening for up to 21 Inherited Metabolic Disorders Using Tandem Mass Spectrometry: Results from a Decision-Analytic Model

Lauren E. Cipriano, C. Anthony Rupar, Gregory S. Zaric · Value in Health · 2007 · 83 citations · Full text

Early Diagnosis, Newborn Screening, Neonatology +9