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Office
50 N Medical Dr
Salt Lake City, UT 84132Phone+1 801-585-6387
Education & Training
- University of Utah HealthFellowship, Neuromuscular Medicine (Neurology), 2009 - 2011
- University of Utah HealthFellowship, Child Neurology, 2006 - 2009
- University of Utah HealthResidency, Pediatrics, 2004 - 2006
- University of Illinois College of MedicineClass of 2004
Certifications & Licensure
- UT State Medical License 2005 - 2026
- American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
Clinical Trials
- Finding the Optimum Regimen for Duchenne Muscular Dystrophy Start of enrollment: 2013 Jan 01
- A Study of Tadalafil for Duchenne Muscular Dystrophy Start of enrollment: 2013 Sep 01
- Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA) Start of enrollment: 2018 Sep 25
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Publications & Presentations
PubMed
- 1 citationsLong-Term Follow-Up Cares and Check Initiative: A Program to Advance Long-Term Follow-Up in Newborns Identified with a Disease through Newborn Screening.Mei Lietsch, Kee Chan, Jennifer Taylor, Bo Hoon Lee, Emma Ciafaloni
International Journal of Neonatal Screening. 2024-04-18 - The recurrent deep intronic pseudoexon-inducing variantc.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readin...A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu
Medrxiv. 2024-03-29 - 5 citationsDeciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing.Russell J Butterfield, Diane M Dunn, Brett Duval, Sarah Moldt, Robert B Weiss
Genome Research. 2023-09-01
Journal Articles
- Whole-Genome Analysis for Effective Clinical Diagnosis and Gene Discovery in Early Infantile Epileptic EncephalopathyFrancis M Filloux, Russell J Butterfield, Meghan S Candee, Joshua L Bonkowsky, Nature
Press Mentions
- The Remarkable Origins of FSHD Research in AmericaNovember 16th, 2020
- Novartis $2 Million Gene Therapy for Rare Disorder Is World’s Most Expensive DrugMay 24th, 2019
- Novartis $2 Million Gene Therapy for Rare Disorder Is World's Most Expensive DrugMay 24th, 2019
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