Edward Clinton Smith | Scholars@Duke

Edward Clinton Smith
Professor of Pediatrics

My clinical research interests focus on neuromuscular diseases . Neuromuscular diseases are a large group of disorders with various causes sharing one common feature: weakness.

One large group of neuromuscular diseases is caused by abnormalities in the nerves as they exit the brain stem and spinal cord and travel out to their respective muscles. These are called “neuropathies.” Common examples in this group include spinal muscular atrophy (SMA), Charcot-Marie-Tooth disease (CMT) and brachial plexus injuries. I am actively involved in clinical trials for SMA and follow over 40 SMA patients in my clinic. I also direct a clinic in collaboration with pediatric plastic surgery, orthopedics and occupational therapy to treat children with birth ("obstetric") brachial plexopathies.

Another large group of neuromuscular diseases, the “myopathies” , are caused by abnormalities in the muscle tissue. Some of the more common examples include Duchenne muscular dystrophy (DMD), myotonic dystrophy and facioscapulohumeral muscular dystrophy (FSHD). I am actively involved in clinical trials in this area and co-direct the Duke Children's Neuromuscular Program which was designated by Parent Project Muscular Dystrophy (PPMD) in June of 2015 as a "Certified Duchenne Care Center".

Less commonly, neuromuscular weakness is due to disorders of neuromuscular transmission. These are caused by abnormalities in the region where the nerve attaches to the muscle. Examples of disorders of neuromuscular transmission include myasthenia gravis and c ongenital myasthenic syndrome .

Since February 2015, we have offered multidisciplinary neuromuscular care for our patients in the Duke Children's Neuromuscular Program. This includes coordinated care from a pediatric neuromuscular specialist, pediatric pulmonologist, pediatric cardiologist, physical and occupational therapists, a nutritionist, a social worker and a medical equipment vendor - all in one location (Lenox Baker Children's Hospital). We also work closely with a pediatric endocrinologist, orthopedic surgeon, and a pediatric gastroenterologist, all with neuromuscular expertise. Genetic counseling services are also available.

Current Appointments & Affiliations

Professor of Pediatrics, Pediatrics, Neurology, Pediatrics 2021
Professor of Neurology, Neurology, Clinical Science Departments 2021

Contact Information

3000 Erwin Road, Durham, NC 27705
3000 Erwin Road, Durham, NC 27705
edward.smith@duke.edu (919) 668-0477
Pediatric Comprehensive Neuromuscular Program

Background
Education, Training, & Certifications
- Child Neurology Residency Training, Pediatrics, Duke University 2004 - 2007
- Residency Training, Pediatrics, University of Mississippi 2002 - 2004
- M.D., University of Mississippi 2002
Medical Licensure
- 2007-00910. North Carolina. 2019
Previous Appointments & Affiliations
- Associate Professor of Neurology, Neurology, Clinical Science Departments 2020 - 2021
- Associate Professor of Pediatrics, Pediatrics, Neurology, Pediatrics 2021
- Chief - Division of Pediatric Infectious Diseases, Pediatrics, Infectious Diseases, Pediatrics 2021
- Associate Professor of Pediatrics, Pediatrics, Neurology, Pediatrics 2017 - 2020
- Associate Professor of Neurology, Neurology, Clinical Science Departments 2017 - 2020
- Assistant Professor of Neurology, Neurology, Clinical Science Departments 2014 - 2017
- Assistant Professor of Pediatrics, Pediatrics, Neurology, Pediatrics 2010 - 2017
- Assistant Professor of Neurology, Neurology, Neuromuscular Disease, Neurology 2013 - 2014
- Assistant Professor of Medicine, Neurology, Clinical Science Departments 2010 - 2013
- Medical Instructor in the Department of Pediatrics, Pediatrics, Neurology, Pediatrics 2007 - 2010
- Medical Instructor in the Department of Medicine, Neurology, Clinical Science Departments 2008 - 2010
Recognition
In the News
- SEP 25, 2020 Duke Health News
  
  New Duchenne Muscular Dystrophy Drug Shows Benefit in Duke Trial
Awards & Honors
- Duke Master Clinician 2020. Duke Department of Pediatrics. 2020
Expertise
Subject Headings
Research
Selected Grants
- A Prospective, Long Term Registry of Patients with a Diagnosis of Spinal Muscular Atrophy awarded by Novartis Gene Therapies, Inc 2018 - 2038
- A Long-term Follow-up Study of Patients in the Clinical Trials for Spinal Muscular Atrophy Receiving AVXS-101 awarded by AveXis, Inc. 2020 - 2035
- Long-Term Follow-Up Stafety and Efficacy Study in Participants with Duchenne Muscular Dystrophy who have received Fordadistrogene Movaparvovec in a preceding clincal study. awarded by Pfizer, Inc. 2023 - 2032
- Long-term Use of Viltolarsen in Boys with Duchenne Muscular Dystrophy in Clinical Practice (VILT-502) awarded by NS Pharma, Inc. 2021 - 2031
- A Phase 3, Multinational, Randomized, Double-Blind, Placebo-Controlled Systemic Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of SRP-9001 in Non-Ambulatory and Ambulatory Subjects With Duchenne Muscular Dystrophy (ENVISION) awarded by Sarepta Therapeutics, Inc. 2023 - 2026
- An Open-label Extension Study for Patients with Spinal Muscular Atrophy who Previously Participated in Investigation Studies of ISIS 396443 awarded by Biogen, Inc. 2019 - 2024
- An integrated and diverse genomic medicine program for undiagnosed diseases awarded by National Institutes of Health 2014 - 2024
- A Randomized, Double-Blind, Placebo- Controlled, Study to Evaluate the Efficacy and Safety of Taldefgrobep Alfa in Ambulatory and Non-Ambulatory Participants with Spinal Muscular Atrophy with Open-Lab awarded by Biohaven Pharmaceuticals 2023 - 2024
- 2020-2025 PPMD CDCC Grant awarded by Parent Parent Project Muscular Dystrophy 2020 - 2023
- PEACE (Pegzilarginase Effect on Arginase 1 Deficiency Clinical Endpoints): A Randomized, Double-Blind, Placebo-Controlled Phase 3 Study of the Efficacy and Safety of Pegzilarginase in Children and Adults with Arginase 1 Deficiency awarded by Aeglea BioTherapeutics 2019 - 2023
- SMA Care Center Registry awarded by Cure SMA 2019 - 2023
- A Phase 1b Multicenter, Open-Label, Single Ascending Dose Study to Evaluate the Safety and Tolerability of PF-06939926 in Ambulatory Subjects with Duchenne Muscular Dystrophy" Protocol # C3391001 (hereinafter the "Study") awarded by Pfizer, Inc. 2017 - 2023
- Changes in Muscle Mass Using the D3-Creatine Dilution and Function in Neuromuscular Disease awarded by University of California - Berkeley 2020 - 2023
- Changes in muscle mass using the D3-creatine dilution method and function in DMD awarded by University of California - Berkeley 2020 - 2023
- Changes in muscle mass using the D3-creatine dilution method and function in DMD awarded by University of California - Berkeley 2020 - 2023
- A Phase 1 Study of the Safety of AAV8-LSPhGAA (ACTUS-101) in Late-onset Pompe Disease (LOPD)- Cohort II awarded by Asklepios BioPharmaceutical, Inc. 2019 - 2023
- Duchenne Outcomes Research Interchange Data Enrichment through EHR Extraction awarded by Parent Project Muscular Dystrophy 2022 - 2023
- A Phase 3 Multinational, Randomized, Double-Blind, Placebo Controlled Systemic Gene Delivery Study to Evaluate the Safety and Efficacy of SRP 9001 in Subjects With Duchenne Muscular Dystrophy" ("Study"); Sarepta Protocol Number SRP-9001-301 awarded by Sarepta Therapeutics, Inc. 2022
- 2022 PPMD CDCC Grant awarded by Parent Parent Project Muscular Dystrophy 2022
- 2021 PPMD CDCC Grant awarded by Parent Parent Project Muscular Dystrophy 2021 - 2022
- A Phase IIb Randomized, Double-blind, Parallel Group, Placebo- and Active-controlled Study with Double-Blind Extension to Assess the Efficacy and Safety of Vamorolone in Ambulant Boys with Duchenne Muscular Dystrophy (DMD) awarded by ReveraGen BioPharma 2018 - 2022
- Reformulation of Pharmaceutical to Treat ALS awarded by North Carolina Biotechnology Center 2020 - 2022
- Early Check CK Screening awarded by Research Triangle Institute International 2020 - 2022
- A Phase II , Open-Label, Extension Study to Assess the Safety and Efficacy of NS-065/NCNP-01 in Boys with Duchenne Muscular Dystrophy (DMD) awarded by NS Pharma, Inc. 2017 - 2021
- A Long-term Observational Study Evaluating Eteplirsen in Patients with Duchenne Muscular Dystrophy under Conditions of Routine Clinical Practice awarded by Sarepta Therapeutics, Inc. 2019 - 2021
- Gene Therapy for Pompe Disease awarded by Actus Therapeutics 2018 - 2021
- Open-label Comparison Study of Wearable Devices BioStamp, AIM Patch, and Actigraph as Compared to ActiMyo in User Preference and Device Performance for Ambulatory Duchenne's Muscular Dystrophy and Limb Girdle Muscular Dystrophy Patients awarded by Sarepta Therapeutics, Inc. 2020 - 2021
- A Comprehensive Newborn Screening Solution for Duchenne and Congenital Muscular Dystrophies awarded by Baebies, Inc 2018 - 2021
- Clinical Protocol for a Phase II Open-label, Multicenter Long-term Extension Study to Assess the Long-term Safety and Efficacy of Vamorolone in Boys with Duchenne Muscular Dystrophy (DMD) awarded by ReveraGen BioPharma 2017 - 2021
- 2019 PPMD CDCC Grant awarded by Parent Parent Project Muscular Dystrophy 2019 - 2020
- PPMD Research Liaison Grant awarded by Parent Parent Project Muscular Dystrophy 2018 - 2020
- Phase 3, Open-Label, Single-Arm, Single-Dose Gene Replacement Therapy Clinical Trial for Patients with Spinal Muscular Atrophy Type 1 with One or Two SMN2 Copies Delivering AVXS-101 by Intravenous Infusion awarded by AveXis, Inc. 2017 - 2020
- A Phase I Study of the Safety of AAV2/8 LSPhGAA in Late-onset Pompe Disease awarded by National Institutes of Health 2017 - 2020
- Characterization of total body muscle mass and muscle protein fractional synthesis rate in boys with Duchenne muscular dystrophy awarded by Duchenne UK 2018 - 2019
- A Phase II, Dose Finding Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NS-065/NCNP-01 in Boys with Duchenne Muscular Dystrophy (DMD) awarded by NS Pharma, Inc. 2017 - 2019
- MULTICENTER, OPEN-LABEL EXTENSION STUDY TO EVALUATE THE LONG TERM SAFETY OF PF-06252616 IN BOYS WITH DUCHENNE MUSCULAR DYSTROPHY awarded by Pfizer, Inc. 2017 - 2019
- PHASE 2, DOUBLE-BLIND, RANDOMIZED, PLACEBO-CONTROLLED, MULTIPLE DOSE STUDY OF CK-2127107 IN TWO ASCENDING DOSE COHORTS OF PATIENTS WITH SPINAL MUSCULAR ATROPHY (SMA) awarded by Cytokinetics, Inc. 2017 - 2019
- Translational studies of GAA deficiency in bioengineered human muscle awarded by National Institutes of Health 2013 - 2019
- A Phase 2 Randomized, Double Blind, Placebo-Controlled, Multiple Ascending dose study to evaluate Safety,Efficacy, and Pharmacokinetics and Pharmacodynamics of PF 06252616 in Ambulatory boys with Duchenne Muscular Dystrophy. awarded by Pfizer, Inc. 2014 - 2019
- VBP15-003 A Phase II Open-label, Multicenter Extension Study to Assess the Long-term Safety and Efficacy of Vamorolone in Boys with Duchenne Muscular Dystrophy (DMD) awarded by ReveraGen BioPharma 2016 - 2019
- VBP-15-002 A Phase IIa Open-Label, Multiple Ascending Dose study to assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of Vamorolone in Boys with Duchenne Muscular Dystrophy (DMD) awarded by ReveraGen BioPharma 2016 - 2019
- CINRG PITT0112 Becker Muscular Dystrophy-A Natural History Study to Predict Efficacy of Exon Skipping awarded by Children's Research Institute 2012 - 2018
- Clinical Meaningful Outcomes for Duchenne Muscular Dystrophy Therapeutic Trials awarded by Children's Research Institute 2012 - 2017
- Supplemental Funding for Phase 1/2 study of Clenbuterol for the Treatment of Pompe Disease awarded by Roivant Sciences, Inc. 2015 - 2016
- An open-label extension study of the long-term safety, tolerability and efficacy of drisapersen in US and Canadian subjects with Duchenne Muscular Dystrophy. awarded by Prosensa Therapeutics B.V. 2014 - 2016
- Bloodwork_Clinical Outcomes Duchenne MD Therapeutic Trials-UCD0305 awarded by Children's Research Institute 2012 - 2016
- Phase 1/2 Study of Clenbuterol for the Treatment of Pompe Disease awarded by Food and Drug Administration 2013 - 2016
- CINRG CHAR0312 Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping awarded by Children's Research Institute 2012 - 2015
- Clinical Meaningful Outcomes for Duchenne Muscular Dystrophy Therapeutic Trials awarded by Children's Research Institute 2012 - 2015
- Clinical Trial Planning in Pompe Disease awarded by National Institutes of Health 2013 - 2014
External Relationships
- Avexis, Inc
- BioAge Labs
- Biogen
- Biomarin
- Edgewise Therapeutics
- Eli Lilly & Co.
- Entrada
- Fibrogen
- Genentech, Inc (Roche Holding)
- NS Pharma - (parent company is Nippon Shinyaku)
- Pfizer Inc.
- REGENXBIO, Inc
- Sarepta Therapeutics
- Scholar Rock
- Signature Biologics
- Solid Biosciences
Publications & Artistic Works
Selected Publications
- Academic Articles
  - Shashi, V., K. Schoch, R. Ganetzky, P. G. Kranz, N. Sondheimer, M. L. Markert, H. Cope, et al. “Biallelic variants in Ribonuclease Inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute necrotizing encephalopathy.” Genet Med, May 13, 2023, 100897. https://doi.org/10.1016/j.gim.2023.100897.
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  - Spillmann, Rebecca C., Queenie K-G Tan, Chloe Reuter, Kelly Schoch, Kelly Undiagnosed Diseases Network, Jennefer Kohler, Devon Bonner, et al. “A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.” Genet Med 25, no. 4 (April 2023): 100353. https://doi.org/10.1016/j.gim.2022.12.001.
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  - Smith, Edward C., Sam Hopkins, Laura E. Case, Ming Xu, Crista Walters, Stephanie Dearmey, Sang-Oh Han, et al. “Phase I study of liver depot gene therapy in late-onset Pompe disease.” Mol Ther, February 18, 2023. https://doi.org/10.1016/j.ymthe.2023.02.014.
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  - Li, Qifei, Rohan Agrawal, Klaus Schmitz-Abe, Casie A. Genetti, Melissa A. Fernandes, Noah L. Fryou, Jill A. Madden, et al. “Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.” Eur J Hum Genet, January 23, 2023. https://doi.org/10.1038/s41431-023-01291-2.
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  - Clemens, Paula R., Vamshi K. Rao, Anne M. Connolly, Amy D. Harper, Jean K. Mah, Craig M. McDonald, Edward C. Smith, et al. “Efficacy and Safety of Viltolarsen in Boys With Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study.” J Neuromuscul Dis 10, no. 3 (2023): 439–47. https://doi.org/10.3233/JND-221656.
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  - Guglieri, Michela, Paula R. Clemens, Seth J. Perlman, Edward C. Smith, Iain Horrocks, Richard S. Finkel, Jean K. Mah, et al. “Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.” Jama Neurol 79, no. 10 (October 1, 2022): 1005–14. https://doi.org/10.1001/jamaneurol.2022.2480.
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  - McConkie-Rosell, Allyn, Kelly Schoch, Jennifer Sullivan, Rebecca C. Spillmann, Heidi Cope, Queenie K-G Tan, Christina G. S. Palmer, Christina G. S. Undiagnosed Disease Network, Stephen R. Hooper, and Vandana Shashi. “Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.” J Genet Couns 31, no. 1 (February 2022): 59–70. https://doi.org/10.1002/jgc4.1451.
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  - Mah, Jean K., Paula R. Clemens, Michela Guglieri, Edward C. Smith, Richard S. Finkel, Mar Tulinius, Yoram Nevo, et al. “Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial.” Jama Netw Open 5, no. 1 (January 4, 2022): e2144178. https://doi.org/10.1001/jamanetworkopen.2021.44178.
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  - Clemens, Paula R., Vamshi K. Rao, Anne M. Connolly, Amy D. Harper, Jean K. Mah, Craig M. McDonald, Edward C. Smith, et al. “Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy.” J Neuromuscul Dis 9, no. 4 (2022): 493–501. https://doi.org/10.3233/JND-220811.
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  - Evans, William J., Mahalakshmi Shankaran, Edward C. Smith, Carl Morris, Edna Nyangau, Alec Bizieff, Marcy Matthews, Hussein Mohamed, and Marc Hellerstein. “Profoundly lower muscle mass and rate of contractile protein synthesis in boys with Duchenne muscular dystrophy.” J Physiol 599, no. 23 (December 2021): 5215–27. https://doi.org/10.1113/JP282227.
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  - Ferdinandusse, Sacha, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P. N. Ruiter, Alida E. M. van Lint, et al. “Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.” Genet Med 23, no. 12 (December 2021): 2467. https://doi.org/10.1038/s41436-021-01189-8.
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  - Rodan, Lance H., Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, et al. “Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.” Genet Med 23, no. 10 (October 2021): 1922–32. https://doi.org/10.1038/s41436-021-01232-8.
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  - Rodan, Lance H., Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, et al. “Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.” Genet Med 23, no. 10 (October 2021): 2016. https://doi.org/10.1038/s41436-021-01306-7.
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  - Cope, Heidi, Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole Hoppman, Cherisse Marcou, Nicole Walley, et al. “Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.” Mol Genet Genomic Med 9, no. 7 (July 2021): e1665. https://doi.org/10.1002/mgg3.1665.
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  - LeBlanc, Kimberly, Emily G. Kelley, Anna Nagy, Jorick Bater, Tala Berro, Molly A. McGuinness, Courtney Studwell, Courtney Undiagnosed Diseases Network, and Matthew Might. “Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network.” Orphanet J Rare Dis 16, no. 1 (May 10, 2021): 210. https://doi.org/10.1186/s13023-021-01825-1.
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  - Peay, Holly L., Ryan Fischer, Brennan Mange, Ryan S. Paquin, Edward C. Smith, Alesia Sadosky, Leo Russo, et al. “Patients' and caregivers' maximum acceptable risk of death for non-curative gene therapy to treat Duchenne muscular dystrophy.” Mol Genet Genomic Med 9, no. 5 (May 2021): e1664. https://doi.org/10.1002/mgg3.1664.
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  - Day, John W., Richard S. Finkel, Claudia A. Chiriboga, Anne M. Connolly, Thomas O. Crawford, Basil T. Darras, Susan T. Iannaccone, et al. “Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.” Lancet Neurol 20, no. 4 (April 2021): 284–93. https://doi.org/10.1016/S1474-4422(21)00001-6.
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  - Ferdinandusse, Sacha, Kirsty McWalter, Heleen Te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P. N. Ruiter, Alida E. M. van Lint, et al. “An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.” Genet Med 23, no. 4 (April 2021): 740–50. https://doi.org/10.1038/s41436-020-01027-3.
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  - Studwell, Courtney M., Emily G. Kelley, Emily G. Undiagnosed Diseases Network, Janet S. Sinsheimer, Christina G. S. Palmer, and Kimberly LeBlanc. “Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice.” J Genet Couns 30, no. 2 (April 2021): 439–47. https://doi.org/10.1002/jgc4.1329.
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  - Schoch, Kelly, Cecilia Esteves, Anna Bican, Rebecca Spillmann, Heidi Cope, Allyn McConkie-Rosell, Nicole Walley, et al. “Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.” Genet Med 23, no. 2 (February 2021): 259–71. https://doi.org/10.1038/s41436-020-00984-z.
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  - Meissner, L. E., E. F. Macnamara, P. D’Souza, J. Yang, G. Vezina, C. R. Ferreira, W. M. Zein, et al. “DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.” Molecular Genetics and Genomic Medicine 8, no. 12 (December 1, 2020). https://doi.org/10.1002/mgg3.1544.
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  - Heier, Christopher R., Aiping Zhang, Nhu Y. Nguyen, Christopher B. Tully, Aswini Panigrahi, Heather Gordish-Dressman, Sachchida Nand Pandey, et al. “Multi-Omics Identifies Circulating miRNA and Protein Biomarkers for Facioscapulohumeral Dystrophy.” J Pers Med 10, no. 4 (November 19, 2020). https://doi.org/10.3390/jpm10040236.
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  - Uchitel, Julie, Boris Kantor, Edward C. Smith, and Mohamad A. Mikati. “Viral-Mediated Gene Replacement Therapy in the Developing Central Nervous System: Current Status and Future Directions.” Pediatr Neurol 110 (September 2020): 5–19. https://doi.org/10.1016/j.pediatrneurol.2020.04.010.
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  - Clemens, Paula R., Gabriela Niizawa, Jia Feng, Julaine Florence, Andrea Smith DʼAlessandro, Lauren P. Morgenroth, Ksenija Gorni, et al. “The CINRG Becker Natural History Study: Baseline characteristics.” Muscle & Nerve 62, no. 3 (September 2020): 369–76. https://doi.org/10.1002/mus.27011.
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  - Smith, Edward C., Laurie S. Conklin, Eric P. Hoffman, Paula R. Clemens, Jean K. Mah, Richard S. Finkel, Michela Guglieri, et al. “Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study.” Plos Med 17, no. 9 (September 2020): e1003222. https://doi.org/10.1371/journal.pmed.1003222.
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  - Dang, Utkarsh J., Michael Ziemba, Paula R. Clemens, Yetrib Hathout, Laurie S. Conklin, Laurie S. CINRG Vamorolone 002/003 Investigators, and Eric P. Hoffman. “Serum biomarkers associated with baseline clinical severity in young steroid-naïve Duchenne muscular dystrophy boys.” Hum Mol Genet 29, no. 15 (August 29, 2020): 2481–95. https://doi.org/10.1093/hmg/ddaa132.
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  - Clemens, Paula R., Vamshi K. Rao, Anne M. Connolly, Amy D. Harper, Jean K. Mah, Edward C. Smith, Craig M. McDonald, et al. “Safety, Tolerability, and Efficacy of Viltolarsen in Boys With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A Phase 2 Randomized Clinical Trial.” Jama Neurol 77, no. 8 (August 1, 2020): 982–91. https://doi.org/10.1001/jamaneurol.2020.1264.
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  - Schneeberger, Pauline E., Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy, Daniela Buhas, et al. “Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.” Brain 143, no. 8 (August 1, 2020): 2437–53. https://doi.org/10.1093/brain/awaa204.
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  - Veerapandiyan, Aravindhan, Anne M. Connolly, Richard S. Finkel, Kapil Arya, Katherine D. Mathews, Edward C. Smith, Diana Castro, et al. “Spinal muscular atrophy care in the COVID-19 pandemic era.” Muscle Nerve 62, no. 1 (July 2020): 46–49. https://doi.org/10.1002/mus.26903.
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  - Veerapandiyan, Aravindhan, Kathryn R. Wagner, Susan Apkon, Craig M. McDonald, Katherine D. Mathews, Julie A. Parsons, Brenda L. Wong, et al. “The care of patients with Duchenne, Becker, and other muscular dystrophies in the COVID-19 pandemic.” Muscle Nerve 62, no. 1 (July 2020): 41–45. https://doi.org/10.1002/mus.26902.
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  - Koeberl, Dwight D., Laura E. Case, Ankit Desai, Edward C. Smith, Crista Walters, Sang-Oh Han, Beth L. Thurberg, Sarah P. Young, Deeksha Bali, and Priya S. Kishnani. “Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.” Mol Genet Metab 129, no. 2 (February 2020): 67–72. https://doi.org/10.1016/j.ymgme.2019.12.008.
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  - Hoffman, Eric P., Benjamin D. Schwartz, Laurel J. Mengle-Gaw, Edward C. Smith, Diana Castro, Jean K. Mah, Craig M. McDonald, et al. “Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function.” Neurology 93, no. 13 (September 24, 2019): e1312–23. https://doi.org/10.1212/WNL.0000000000008168.
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  - Shashi, Vandana, Janelle Geist, Youngha Lee, Yongjin Yoo, Unbeom Shin, Kelly Schoch, Jennifer Sullivan, et al. “Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.” Hum Mutat 40, no. 8 (August 2019): 1115–26. https://doi.org/10.1002/humu.23760.
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  - Paquin, Ryan S., Ryan Fischer, Carol Mansfield, Brennan Mange, Katherine Beaverson, Annie Ganot, Amy Strong Martin, et al. “Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best-worst scaling experiment in caregivers and adult patients.” Orphanet J Rare Dis 14, no. 1 (May 9, 2019): 102. https://doi.org/10.1186/s13023-019-1069-6.
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  - Helbig, Katherine L., Robert J. Lauerer, Jacqueline C. Bahr, Ivana A. Souza, Candace T. Myers, Betül Uysal, Niklas Schwarz, et al. “De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.” Am J Hum Genet 104, no. 3 (March 7, 2019): 562. https://doi.org/10.1016/j.ajhg.2019.02.015.
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  - Khan, Tahir N., Kamal Khan, Azita Sadeghpour, Hannah Reynolds, Yezmin Perilla, Marie T. McDonald, William B. Gallentine, et al. “Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.” Am J Hum Genet 104, no. 1 (January 3, 2019): 94–111. https://doi.org/10.1016/j.ajhg.2018.11.017.
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  - Landrum Peay, Holly, Ryan Fischer, Janice P. Tzeng, Sharon E. Hesterlee, Carl Morris, Amy Strong Martin, Colin Rensch, et al. “Gene therapy as a potential therapeutic option for Duchenne muscular dystrophy: A qualitative preference study of patients and parents.” Plos One 14, no. 5 (2019): e0213649. https://doi.org/10.1371/journal.pone.0213649.
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  - Shashi, Vandana, Maria M. Magiera, Dennis Klein, Maha Zaki, Kelly Schoch, Sabine Rudnik-Schöneborn, Andrew Norman, et al. “Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.” Embo J 37, no. 23 (December 3, 2018). https://doi.org/10.15252/embj.2018100540.
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  - Conklin, Laurie S., Jesse M. Damsker, Eric P. Hoffman, William J. Jusko, Panteleimon D. Mavroudis, Benjamin D. Schwartz, Laurel J. Mengle-Gaw, et al. “Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug.” Pharmacol Res 136 (October 2018): 140–50. https://doi.org/10.1016/j.phrs.2018.09.007.
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  - Koeberl, Dwight D., Laura E. Case, Edward C. Smith, Crista Walters, Sang-Oh Han, Yanzhen Li, Wei Chen, et al. “Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.” Mol Ther 26, no. 9 (September 5, 2018): 2304–14. https://doi.org/10.1016/j.ymthe.2018.06.023.
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  - Marcogliese, Paul C., Vandana Shashi, Rebecca C. Spillmann, Nicholas Stong, Jill A. Rosenfeld, Mary Kay Koenig, Julián A. Martínez-Agosto, et al. “IRF2BPL Is Associated with Neurological Phenotypes.” Am J Hum Genet 103, no. 2 (August 2, 2018): 245–60. https://doi.org/10.1016/j.ajhg.2018.07.006.
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  - McDonald, C. M., B. Wong, K. M. Flanigan, R. Wilson, S. de Kimpe, A. Lourbakos, Z. Lin, et al. “Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy.” Annals of Clinical and Translational Neurology 5, no. 8 (August 1, 2018): 913–26. https://doi.org/10.1002/acn3.579.
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  - Mah, Jean K., Jia Feng, Marni B. Jacobs, Tina Duong, Kate Carroll, Katy de Valle, Cara L. Carty, et al. “A multinational study on motor function in early-onset FSHD.” Neurology 90, no. 15 (April 10, 2018): e1333–38. https://doi.org/10.1212/WNL.0000000000005297.
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  - Pena, Loren D. M., Yong-Hui Jiang, Kelly Schoch, Rebecca C. Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, et al. “Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.” Genet Med 20, no. 4 (April 2018): 464–69. https://doi.org/10.1038/gim.2017.128.
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  - Krosschell, Kristin J., John T. Kissel, Elise L. Townsend, Sarah D. Simeone, Ren Zhe Zhang, Sandra P. Reyna, Thomas O. Crawford, et al. “Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I.” Muscle Nerve 57, no. 2 (February 2018): 193–99. https://doi.org/10.1002/mus.25776.
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  - Pecoraro, Anthony, Eric Arehart, William Gallentine, Rodney Radtke, Edward Smith, Carolyn Pizoli, Sujay Kansagra, Elie Abdelnour, Roger McLendon, and Mohamad A. Mikati. “Epilepsy in neurofibromatosis type 1.” Epilepsy Behav 73 (August 2017): 137–41. https://doi.org/10.1016/j.yebeh.2017.05.011.
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  - Smith, Edward C., Kathryn Idol Xixis, Gerald A. Grant, and Stuart A. Grant. “Assessment of obstetric brachial plexus injury with preoperative ultrasound.” Muscle Nerve 53, no. 6 (June 2016): 946–50. https://doi.org/10.1002/mus.24975.
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  - Punetha, Jaya, Akanchha Kesari, Prech Uapinyoying, Mamta Giri, Nigel F. Clarke, Leigh B. Waddell, Kathryn N. North, et al. “Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.” J Neuromuscul Dis 3, no. 2 (May 27, 2016): 209–25. https://doi.org/10.3233/JND-160151.
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  - Chamberlain, Reid C., Edward C. Smith, and Michael J. Campbell. “Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy.” Pediatr Neurol 53, no. 5 (November 2015): 439–41. https://doi.org/10.1016/j.pediatrneurol.2015.07.008.
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  - Grant, Stuart A., and Edward C. Smith. “Ultrasound of cervical roots and brachial plexus in neonates.” Muscle Nerve 51, no. 4 (April 2015): 626. https://doi.org/10.1002/mus.24518.
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  - Bushby, Katharine, Richard Finkel, Brenda Wong, Richard Barohn, Craig Campbell, Giacomo P. Comi, Anne M. Connolly, et al. “Ataluren treatment of patients with nonsense mutation dystrophinopathy.” Muscle Nerve 50, no. 4 (October 2014): 477–87. https://doi.org/10.1002/mus.24332.
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  - Koeberl, Dwight D., Stephanie Austin, Laura E. Case, Edward C. Smith, Anne F. Buckley, Sarah P. Young, Deeksha Bali, and Priya S. Kishnani. “Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.” Faseb J 28, no. 5 (May 2014): 2171–76. https://doi.org/10.1096/fj.13-241893.
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  - Krosschell, Kristin J., Jo Anne Maczulski, Charles Scott, Wendy King, Jill T. Hartman, Laura E. Case, Donata Viazzo-Trussell, et al. “Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type I.” Pediatr Phys Ther 25, no. 2 (2013): 140–48. https://doi.org/10.1097/PEP.0b013e31828a205f.
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  - Steele, Sonya U., Sue Mei Cheah, Aravindhan Veerapandiyan, William Gallentine, Edward C. Smith, and Mohamad A. Mikati. “Electroencephalographic and seizure manifestations in two patients with folate receptor autoimmune antibody-mediated primary cerebral folate deficiency.” Epilepsy Behav 24, no. 4 (August 2012): 507–12. https://doi.org/10.1016/j.yebeh.2012.05.021.
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  - Smith, Edward C., Areeg El-Gharbawy, and Dwight D. Koeberl. “Metabolic myopathies: clinical features and diagnostic approach.” Rheum Dis Clin North Am 37, no. 2 (May 2011): 201–vi. https://doi.org/10.1016/j.rdc.2011.01.004.
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  - Shea, Kenneth J., Jenny K. Hoang, and Edward C. Smith. “Ischemic stroke because of intracranial fibromuscular dysplasia.” Pediatr Neurol 44, no. 3 (March 2011): 214–17. https://doi.org/10.1016/j.pediatrneurol.2010.11.004.
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  - Veerapandiyan, Aravindhan, Sara A. Winchester, William B. Gallentine, Edward C. Smith, Sujay Kansagra, Keith Hyland, and Mohamad A. Mikati. “Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.” Epilepsy Behav 20, no. 3 (March 2011): 494–501. https://doi.org/10.1016/j.yebeh.2010.12.046.
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  - Selcen, D., V. C. Juel, L. D. Hobson-Webb, E. C. Smith, D. E. Stickler, A. V. Bite, K. Ohno, and A. G. Engel. “Myasthenic syndrome caused by plectinopathy.” Neurology 76, no. 4 (January 25, 2011): 327–36. https://doi.org/10.1212/WNL.0b013e31820882bd.
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  - Veerapandiyan, Aravindhan, Vandana Shashi, Yong-Hui Jiang, William Brian Gallentine, Kelly Schoch, and Edward Clinton Smith. “Pseudometabolic presentation of dystrophinopathy due to a missense mutation.” Muscle Nerve 42, no. 6 (December 2010): 975–79. https://doi.org/10.1002/mus.21823.
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  - Chemla, Jeremy C., Ronald J. Kanter, Michael P. Carboni, and Edward C. Smith. “Two children with "dropped head" syndrome due to lamin A/C mutations.” Muscle Nerve 42, no. 5 (November 2010): 839–41. https://doi.org/10.1002/mus.21820.
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  - Harreld, J. H., E. C. Smith, N. S. Prose, P. K. Puri, and D. P. Barboriak. “Trichothiodystrophy with dysmyelination and central osteosclerosis.” Ajnr Am J Neuroradiol 31, no. 1 (January 2010): 129–30. https://doi.org/10.3174/ajnr.A1665.
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  - Hoang, J. K., E. C. Smith, and D. P. Barboriak. “Ruptured maxillary retention cyst: cause of unilateral rhinorrhea after trauma.” Ajnr Am J Neuroradiol 30, no. 6 (June 2009): 1121–22. https://doi.org/10.3174/ajnr.A1457.
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  - Smith, J Clinton, James E. Peck, Linda I. Ray, and Edward C. Smith. “Aortoarteritis and sensorineural hearing loss in an adolescent black male.” Am J Otolaryngol 25, no. 5 (2004): 370–76. https://doi.org/10.1016/j.amjoto.2004.04.009.
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- Conference Papers
  - Butterfield, Russell J., Perry B. Shieh, Florence Yong, Michael Binks, Tara G. McDonnell, Kelly A. Ryan, Marielle Delnomdedieu, et al. “Results of One Year Follow-Up After Treatment With Fordadistrogene Movaparvovec (PF-06939926) for Duchenne Muscular Dystrophy (DMD) in A Phase 1b, Open-label Study.” In Molecular Therapy, 30:4–5, 2022.
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  - Smith, Edward C., Sam Hopkins, Laura E. Case, Martin K. Childers, Sang-Oh Han, Tracy G. Spears, Christoph P. Hornik, Deeksha Bali, Priya S. Kishnani, and Dwight D. Koeberl. “Phase 1 Study of Gene Therapy in Late-Onset Pompe Disease: Initial 104-Week Experience.” In Molecular Therapy, 30:563–64, 2022.
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  - Day, J. W., R. S. Finkel, A. M. Connolly, B. T. Darras, S. T. Iannaccone, N. L. Kuntz, L. D. M. Peña, et al. “S12 Onasemnogene abeparvovec gene therapy for spinal muscular atrophy type 1: phase 3 study (STR1VE-US).” In Predicting Longer Term Outcomes in Children. BMJ Publishing Group Ltd and British Thoracic Society, 2021. https://doi.org/10.1136/thorax-2020-btsabstracts.18.
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  - Koeberl, Dwight, Edward C. Smith, Laura E. Case, Sam Hopkins, Martin K. Childers, Crista Walters, Sang-oh Han, et al. “A phase 1 study of gene therapy with ACTUS-101 in late-onset Pompe disease.” In Molecular Genetics and Metabolism, 129:S91–S91. Elsevier BV, 2020. https://doi.org/10.1016/j.ymgme.2019.11.227.
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  - Day, John W., Claudia A. Chiriboga, Thomas O. Crawford, Basil T. Darras, Richard S. Finkel, Anne M. Connolly, Susan T. Iannaccone, et al. “Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy for Spinal Muscular Atrophy Type 1 (SMA1): Phase 3 US Study (STR1VE) Update.” In Neurology, Vol. 94, 2020.
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  - Koeberl, Dwight, Edward C. Smith, Laura Case, Sam Hopkins, Martin K. Childers, Stephanie Dearmey, Crista Walters, et al. “Phase 1 Study of Gene Therapy in Late-Onset Pompe Disease: Analyses of Safety and Secondary Endpoints.” In Molecular Therapy, 28:224–224, 2020.
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  - Shell, R., J. W. Day, C. A. Chiriboga, T. O. Crawford, B. T. Darras, R. S. Finkel, A. M. Connolly, et al. “Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy for Spinal Muscular Atrophy Type 1: Pulmonary and Ventilatory Findings from the Pivotal Phase 3 US Study (STR1VE).” In American Journal of Respiratory and Critical Care Medicine, Vol. 201, 2020.
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  - Day, John W., Claudia A. Chiriboga, Thomas O. Crawford, Basil T. Darras, Richard S. Finkel, Anne M. Connolly, Susan T. Iannaccone, et al. “250 AVXS-101 phase 3 study in spinal muscular atrophy type 1.” In Journal of Neurology, Neurosurgery &Amp; Psychiatry, 90:e60.2-e60. BMJ, 2019. https://doi.org/10.1136/jnnp-2019-abn-2.202.
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  - Shell, R., J. W. Day, C. A. Chiriboga, T. O. Crawford, B. T. Darras, R. S. Finkel, A. M. Connolly, et al. “S61 Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): preliminary pulmonary and ventilatory findings from the phase 3 study (STR1VE).” In Diagnostic and Therapeutic Advances in Paediatrics. BMJ Publishing Group Ltd and British Thoracic Society, 2019. https://doi.org/10.1136/thorax-2019-btsabstracts2019.67.
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  - Mercuri, E., G. Baranello, J. W. Day, C. Bruno, S. Corti, C. A. Chiriboga, T. O. Crawford, et al. “Onasemnogene abeparvovec gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): Global pivotal phase 3 study program (STR1VE-US, STR1VE-EU, STR1VE-AP).” In Journal of the Neurological Sciences, 405:277–78. Elsevier BV, 2019. https://doi.org/10.1016/j.jns.2019.10.1338.
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  - Mercuri, E., G. Baranello, J. W. Day, C. Bruno, S. Corti, C. A. Chiriboga, T. O. Crawford, et al. “AVXS-101 gene replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal studies clinical update (STR1VE-EU and STR1VE).” In European Journal of Neurology, 26:224–25. WILEY, 2019.
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  - Day, John W., Claudia A. Chiriboga, Thomas O. Crawford, Basil T. Darras, Richard S. Finkel, Anne M. Connolly, Susan T. Iannaccone, et al. “066 Avxs-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update.” In Journal of Neurology, Neurosurgery &Amp; Psychiatry, 90:A22.1-A22. BMJ, 2019. https://doi.org/10.1136/jnnp-2019-anzan.58.
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  - Day, John W., Claudia A. Chiriboga, Thomas O. Crawford, Basil T. Darras, Richard S. Finkel, Anne M. Connolly, Susan T. Iannaccone, et al. “AVXS-101 Gene-Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update.” In Neurology, Vol. 92. LIPPINCOTT WILLIAMS & WILKINS, 2019.
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  - Shell, R., J. Day, C. Chiriboga, T. O. Crawford, B. T. Darras, R. Finkel, A. M. Connolly, et al. “AVXS-101 Gene Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update.” In American Journal of Respiratory and Critical Care Medicine, Vol. 199. AMER THORACIC SOC, 2019.
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  - Day, J. W., C. A. Chiriboga-Klein, T. Crawford, B. T. Darras, R. S. Finkel, A. M. Connolly, S. T. Iannaccone, et al. “Zero incidence of adeno-associated virus serotype 9 (AAV9) antibodies in a cohort of spinal muscular atrophy (SMA) type 1 patients screened in STR1VE, a pivotal phase 3 study of AVXS-101.” In Human Gene Therapy, 29:A82–83. MARY ANN LIEBERT, INC, 2018.
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  - Olgasi, C., M. Talmon, S. Merlin, A. Cucci, Y. Richaud-Patin, D. Colangelo, F. di Scipio, et al. “Patient-specific iPSC-derived endothelial cells provide longterm phenotypic correction of hemophilia A.” In Human Gene Therapy, 29:A78–A78. MARY ANN LIEBERT, INC, 2018.
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  - Koeberl, Dwight, Laura Case, Edward C. Smith, Yanzhen Li, Crista Walters, Christoph Hornik, Beth Thurberg, Deeksha Bali, Nenad Bursac, and Priya S. Kishnani. “Correction of biochemical abnormalities and gene expression associated with improved muscle function in a phase I/II clinical trial of clenbuterol in Pompe disease patients stably treated with ERT.” In Molecular Genetics and Metabolism, 123:S79–80. Elsevier BV, 2018. https://doi.org/10.1016/j.ymgme.2017.12.202.
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  - Koeberl, Dwight, Stephanie Austin, Laura Case, Edward C. Smith, Anne Buckley, Sarah P. Young, Deeksha Bali, and Priya S. Kishnani. “Pilot study of adjunctive albuterol in late-onset Pompe disease reveals safety and efficacy from upregulated Mannose-6-phosphate receptor expression.” In Molecular Genetics and Metabolism, 111:S62–S62. Elsevier BV, 2014. https://doi.org/10.1016/j.ymgme.2013.12.137.
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  - Swoboda, Kathryn J., Kristin Krosschell, Thomas Crawford, Charles Scott, John Kissel, Mary K. Schroth, Gyula Acsadi, et al. “A Multicenter Phase II Open-Label Trial of Valproic Acid and L-Carnitine in Infants with SMA Type I.” In Annals of Neurology, 72:S78–79. WILEY-BLACKWELL, 2012.
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  - Steele, S. U., A. Veerapandiyan, E. C. Smith, W. B. Gallentine, K. Hyland, and M. A. Mikati. “EEG and seizure characteristics in patients with primary cerebral folate deficiency.” In Annals of Neurology, 70:S125–S125. WILEY-BLACKWELL, 2011.
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  - El-Gharbawy, Areeg H., Edward C. Smith, Teodoro Bottiglieri, Keith Hyland, Sarah P. Young, and Dwight Koeberl. “Why 5-methyltetrahydrofolate may be preferred to folinic acid in severe MTHFR deficiency complicated by cerebral folate deficiency. Results of an "n-1-clinical trial".” In Molecular Genetics and Metabolism, 102:278–79. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2011.
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  - Juel, Vern C., Lisa D. Hobson-Webb, Edward C. Smith, David E. Stickler, Duygu Selcen, and Andrew G. Engel. “Fatal Muscular Dystrophy, Congenital Myasthenic Syndrome (CMS), and Epidermolysis Bullosa Simplex (EBS) Due to Plectin Deficiency.” In Neurology, 74:A109–10. LIPPINCOTT WILLIAMS & WILKINS, 2010.
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  - Spencer-Manzon, M., E. C. Smith, and D. D. Koeberl. “BJORNSTAD SYNDROME IN A BOY WITH SENSORINEURAL HEARING LOSS, PILI TORTI, MENTAL RETARDATION, SEIZURES AND COMPLEX III DEFICIENCY.” In Molecular Genetics and Metabolism, 99:234–234. ACADEMIC PRESS INC ELSEVIER SCIENCE, 2010.
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  - Chamberlain, R., E. C. Smith, and M. J. Campbell. “Novel dystrophin rod domain duplication in patient with X-linked dilated cardiomyopathy,” n.d.

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