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Neuromuscular Disorders : NMD|July 3, 2023
Lean tissue mass measurements by dual-energy X-ray absorptiometry and associations with strength and functional outcome measures in facioscapulohumeral muscular dystrophyLeo H Wang, Doris G Leung, Kathryn R Wagner, et al.
The Journal of Investigative Dermatology|January 30, 2025
Multiomic Sequencing of Intermediate- to High-Risk Cutaneous Squamous Cell Carcinoma Identifies Critical Genes and Expression Patterns Associated with Disease and Poor OutcomesShams Nassir, Miranda Yousif, Xing Li, et al.
Neuromuscular Disorders : NMD|March 20, 2026
Late-onset facioscapulohumeral muscular dystrophy defines a distinct clinical subgroupGiulia Tammam, Sandra Dhifallah, Hongmei Yang, et al.
Journal of the American Academy of Dermatology|November 5, 2025
Development of a gene-expression panel predictive of local recurrence, metastasis, and overall survival in intermediate- to high-risk cutaneous squamous cell carcinoma: A cohort studyZachary Leibovit-Reiben, Alyssa Stockard, Shams Nassir, et al.
Neurology. Genetics|May 2, 2019
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>GAngela J Lee, Karra A Jones, Russell J Butterfield, et al.
Neurology|May 11, 2022
Randomized Phase 2 Study of ACE-083 in Patients With Charcot-Marie-Tooth DiseaseFlorian P Thomas, Thomas H Brannagan, Russell J Butterfield, et al.
Human Mutation|September 11, 2014
Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variabilitySandra Donkervoort, Ying Hu, Tanya Stojkovic, et al.
BMC Medical Genomics|November 14, 2025
RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease casesRobert G Lewis, John M O'Shea, Lucilla Pizzo, et al.
Neuromuscular Disorders : NMD|June 12, 2020
Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophyKathryn R Wagner, Hoda Z Abdel-Hamid, Jean K Mah, et al.
Human Mutation|February 15, 2022
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophyMegan A Waldrop, Steven A Moore, Katherine D Mathews, et al.
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