Posters & Publications
Posters & Publications
Featured Publications & Awards
2025
2024
Conference Posters
2025
Publications
Organized by principal investigator
Crawford, Thomas O et al. A plain language summary of the SAPPHIRE clinical trial of apitegromab in children and young adults with spinal muscular atrophy. Expert review of neurotherapeutics vol. 26,1 (2026): 101-120. PMID: 41233939
Ames, Elizabeth G et al. Institutional readiness for novel therapeutics: A framework for multidisciplinary integration. Molecular genetics and metabolism vol. 146,1-2 (2025): 109214. PMID: 40763653
Butterfield, Russell J et al. AAV mini-dystrophin gene therapy for Duchenne muscular dystrophy: a phase 1b trial. Nature medicine vol. 31,8 (2025): 2712-2721. PMID: 40579547
Byrne, Barry J et al. Complement activation in a phase Ib study of fordadistrogene movaparvovec for Duchenne muscular dystrophy. Molecular therapy: the journal of the American Society of Gene Therapy vol. 33,9 (2025): 4226-4238. PMID: 40583275
Crawford, Thomas O et al. Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial. The Lancet. Neurology vol. 24,9 (2025): 727-739. PMID: 40818473
Oskoui, Maryam et al. Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus: Report of the AAN Guidelines Subcommittee. Neurology vol. 104,11 (2025): e213604. PMID: 40367405
Sherlock, Sarah P et al. Cardiac safety of fordadistrogene movaparvovec gene therapy in Duchenne muscular dystrophy: Initial observations from a phase 1b trial. Molecular therapy : the journal of the American Society of Gene Therapy vol. 33,9 (2025): 4216-4225. PMID: 40583273
Wolff, Jodi M et al. Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy. Neuromuscular disorders : NMD vol. 54 (2025): 106208. PMID: 41005046
Foley, A Reghan et al. The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences 2024.03.29.24304673. 29 Mar. 2024. Preprint. PMID: 38585825
Zaidman, Craig M et al. Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy. Journal of neuromuscular diseases vol. 11,3 (2024): 687-699. PMID: 38607761
Berggren, Kiera N et al. Orofacial strength, dysarthria, and dysphagia in congenital myotonic dystrophy. Muscle & nerve vol. 58,3 (2018): 413-417. PMID: 29901230
Pucillo, Evan M et al. Modified dynamic gait index and limits of stability in myotonic dystrophy type 1. Muscle & nerve vol. 58,5 (2018): 694-699. PMID: 30160307
Hayes, Heather A et al. Stepping Activity in Children With Congenital Myotonic Dystrophy. Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association vol. 30,4 (2018): 335-339. PMID: 30277969
Pucillo, Evan M et al. Physical function and mobility in children with congenital myotonic dystrophy. Muscle & nerve vol. 56,2 (2017): 224-229. PMID: 27859360
Johnson, Nicholas E et al. Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study. Neurology vol. 87,2 (2016): 160-7. PMID: 27306634
Singh, Nanda A et al. A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. PLoS genetics vol. 5,9 (2009): e1000649. PMID: 19763161
Rotimi, Charles et al. Community engagement and informed consent in the International HapMap project. Community genetics vol. 10,3 (2007): 186-98. PMID: 17575464
International HapMap Consortium et al. A second generation human haplotype map of over 3.1 million SNPs. Nature vol. 449,7164 (2007): 851-61. PMID: 17943122
Sabeti, Pardis C et al. Genome-wide detection and characterization of positive selection in human populations. Nature vol. 449,7164 (2007): 913-8. PMID: 17943131
Dunn, Diane M, and Robert B Weiss. Total RNA-seq as a Tool to Study DMD Splicing and Transcriptional Dynamics. Methods in molecular biology (Clifton, N.J.) vol. 2975 (2026): 17-36. PMID: 41028306
Dunn, Diane M, and Robert B Weiss. Multiplex Ligation-Dependent Probe Amplification (MLPA) for the Detection of Copy Number Mutations in the DMD Gene. Methods in molecular biology (Clifton, N.J.) vol. 2975 (2026): 1-15. PMID: 41028305
Boyd, Bret M et al. Stochasticity, determinism, and contingency shape genome evolution of endosymbiotic bacteria. Nature communications vol. 15,1 4571. 29 May. 2024. PMID: 38811551
Lemmers, Richard J L F et al. Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy. Brain : a journal of neurology vol. 147,2 (2024): 414-426. PMID: 37703328
Almeida, Camila F et al. Promising AAV.U7snRNAs vectors targeting DMPK improve DM1 hallmarks in patient-derived cell lines. Frontiers in cell and developmental biology vol. 11 1181040. 15 Jun. 2023. PMID: 37397246
Butterfield, Russell J et al. Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing. bioRxiv : the preprint server for biology 2023.02.17.528868. 29 Mar. 2023. Preprint. PMID: 36824722
Flanigan, Kevin M et al. A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity. European journal of human genetics : EJHG vol. 31,6 (2023): 663-673. PMID: 36935420
Waldrop, Megan A et al. Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy. Human mutation vol. 43,4 (2022): 511-528. PMID: 35165973
Wein, Nicolas et al. Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse. Molecular therapy. Methods & clinical development vol. 26 279-293. 11 Jul. 2022. PMID: 35949298
Zambon, Alberto A et al. Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications. Neurology vol. 98,7 (2022): e730-e738. PMID: 34937785
Almeida, Camila F et al. Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders. Journal of visualized experiments : JoVE ,170 10.3791/61991. 3 Apr. 2021. PMID: 33871464
Butterfield, Russell J et al. High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis. Molecular genetics & genomic medicine vol. 9,4 (2021): e1619. PMID: 33624941
Dai, Li et al. Core transcriptional networks in Williams syndrome: IGF1-PI3K-AKT-mTOR, MAPK and actin signaling at the synapse echo autism. Human molecular genetics vol. 30,6 (2021): 411-429. PMID: 33564861
Nechitaylo, Taras Y et al. Incipient genome erosion and metabolic streamlining for antibiotic production in a defensive symbiont. Proceedings of the National Academy of Sciences of the United States of America vol. 118,17 (2021): e2023047118. PMID: 33883280
Wein, Nicolas et al. Absence of Significant Off-Target Splicing Variation with a U7snRNA Vector Targeting DMD Exon 2 Duplications. Human gene therapy vol. 32,21-22 (2021): 1346-1359. PMID: 34060935