Steven A. Moore

机构：University of Iowa · ORCID：0000-0002-6353-7900

发表论文 415 篇 · 总被引 19229 次 · h-index 63

代表论文

Validation of Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy (2021 · Journal of Molecular Diagnostics · 被引 60)
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy (2022 · Human Mutation · 被引 50)
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines (2024 · Clinical Genetics · 被引 48)
The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies (2022 · Acta Neuropathologica Communications · 被引 34)
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium (2021 · Journal of Clinical Investigation · 被引 25)
A comparison of in-person versus telephone consultations for outpatient hospital care (2022 · Future Healthcare Journal · 被引 24)