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Mary O. Cox · SciRah

Researcher profile · Semantic Scholar

Mary O. Cox

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Mary O. Cox — researcher profile on SciRah

h-index: 5
Works: 9
Citations: 210

Most-cited papers

Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
Ann E. Davidson, F. Siddiqui, Michael A. Lopez, P. Lunt +22 more
2013Brain : a journal of neurology61 citations Open access
Semantic Scholar
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy
A. Larson, Peter R. Ii Baker, Miroslav P. Milev, Craig A. Press +11 more
2018Skeletal Muscle58 citations Open access
Semantic Scholar
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation
Braden S. Jensen, T. Willer, D. Saade, Mary O. Cox +7 more
2015Human Mutation45 citations Open access
Semantic Scholar
Early Progressive Dilated Cardiomyopathy in a Family with Becker Muscular Dystrophy Related to a Novel Frameshift Mutation in the Dystrophin Gene Exon 27
T. Tsuda, Kristi K. Fitzgerald, Mena Scavena, S. Gidding +4 more
2014Journal of Human Genetics19 citations Open access
Semantic Scholar
Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G
Angela J. Lee, Karra A. Jones, R. Butterfield, Mary O. Cox +17 more
2019Neurology: Genetics18 citations Open access
Semantic Scholar
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Anna M Reelfs, C. Stephan, Theresa M. Czech, Mary O. Cox +5 more
2025Annals of Clinical and Translational Neurology4 citations Open access
Semantic Scholar
A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy
E. Saylam, S. Moore, Akilandeswari Aravindhan, H. Marton +5 more
2019Neurology: Genetics3 citations Open access
Semantic Scholar
Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene
Erin Willis, S. Moore, Mary O. Cox, V. Stefans +3 more
2022Child Neurology Open2 citations Open access
Semantic Scholar
Clinical summary of eight unrelated individuals with GMPPB mutations
K. Mathews, Braden S. Jensen, Dimah N. Saade, T. Willer +6 more
20150 citations
Semantic Scholar

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