January 01, 2026 article Open access From Variant Interpretation to Biomarker Translation: Multi‐omics Integration in Inherited Neuromuscular Diseases Human Mutation DOI: 10.1155/humu/9236120 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 0 stored of 0 References 4 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access Neuromuscular disease genetics in under-represented populations: increasing data diversity 2023 Brain article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 31 citations Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI 2025 Journal of Cachexia Sarcopenia and Muscle article Medicine Neurogenetic and Muscular Disorders Research Open access 10 citations 286th ENMC international workshop: Muscle imaging: artificial intelligence, automatic segmentation and imaging data sharing in neuromuscular disease. Hoofddorp, The Netherlands, 7-9 March 2025 2025 Neuromuscular Disorders article Computer Science Medical Image Segmentation Techniques 2 citations Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants 2026 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 1 citations 4 results