Steven A. Moore

Biochemistry, Genetics and Molecular BiologyNeuroscienceMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 18 papers. Top paper: “SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome”.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

UNC Libraries(2020)10.17615/tdb3-bx52

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0DataRank · unranked

0 citations

Hemant Bengani, Joseph A. Marsh, Angela M. Kaindl, Koh-ichiro Yoshiura, Katharina Steindl +73 more

Making sense of missense variants in TTN-related congenital myopathies

Acta Neuropathologica(2021)10.1007/s00401-020-02257-0

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0DataRank · unranked

67 citations

Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A. Fernandez-Garcia, Elizabeth Wraige +40 more

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium

Journal of Clinical Investigation(2021)10.1172/jci145700

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24 citations

Sandra Donkervoort, Josine M. de Winter, Stefan Conijn, Leon P. L. Begthel, Benno Küsters +20 more

Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy

Human Molecular Genetics(2021)10.1093/hmg/ddab278

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5 citations

Lacramioara Fabian, Adeel Sheikh, Ramil R. Noche, Xiucheng Cui, Steven A. Moore +2 more

The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies

Acta Neuropathologica Communications(2022)10.1186/s40478-022-01320-z

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34 citations

Steven A. Moore, Karra A. Jones, Nicole Becker

Development and Validation of a Western Blot Method to Quantify Mini-Dystrophin in Human Skeletal Muscle Biopsies

The AAPS Journal(2022)10.1208/s12248-022-00776-0

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0DataRank · unranked

7 citations

Jennifer L. Larsen, Carolina Owen, David J. Gifondorwa, David Beidler, Florence H. Yong +5 more

Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants

Neurology(2022)10.1212/wnl.0000000000200032

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10 citations

Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Sandra Donkervoort +17 more

Sphingosine Phosphate Lyase Is Upregulated in Duchenne Muscular Dystrophy, and Its Inhibition Early in Life Attenuates Inflammation and Dystrophy in Mdx Mice

International Journal of Molecular Sciences(2022)10.3390/ijms23147579

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4 citations

Steven A. Moore, Jesus Zamora-Pineda, Eric P. Hoffman, Karishma Mistry, Ashok Kumar +5 more

DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose

Science Advances(2023)10.1126/sciadv.abq7744

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12 citations

Hamed Bostan, MaKenna R. Browne, Owen F. Bevis, Carl D. Bortner, Steven A. Moore +7 more

A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy

Cells(2023)10.3390/cells12060847

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8 citations

Felipe Rodríguez, Philippe Cuniasse, Mei-ling A. Joiner, Simona Miron, Alexey A. Soshnev +7 more

Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1

Case Reports in Neurology(2023)10.1159/000530974

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1 citations

Shawna Feely, Michael E. Shy, Christina Trout, Stephan Züchner, Steven A. Moore +2 more

Elevated aminotransferases in a 62-year-old woman

Cleveland Clinic Journal of Medicine(2023)10.3949/ccjm.90a.23011

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0 citations

Steven A. Moore, Anthony N. Snow, Kyle E. Brown, Shahana Prakash

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines

Clinical Genetics(2024)10.1111/cge.14533

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0DataRank · unranked

42 citations

Pilar Camaño, Sarah Burton‐Jones, Gianina Ravenscroft, Franclo Henning, Frédérique Magdinier +16 more

The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease

International Journal of Molecular Sciences(2024)10.3390/ijms25094930

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7 citations

Efrem M. Cox, Emily Adelizzi, Steven A. Moore, Katherine D. Mathews, Benjamin W. Darbro +2 more

Expedited Exome Reanalysis Following Deep Phenotyping and Muscle Biopsy in Suspected Mitochondrial Disorder

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.04.007

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0 citations

Steven A. Moore, Pim Suwannarat, Christina Grant, Nicholas Ah Mew, Andrea Gropman +2 more

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology(2025)10.1002/acn3.70002

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4 citations

Carrie Stephan, Theresa Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro +4 more

Spatial proteomics reveals recombinant human laminin-111 restores adhesion signaling to laminin-α2–deficient muscle

JCI Insight(2025)10.1172/jci.insight.194581

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1 citations

Ryan D. Wuebbles, Marisela Dagda, Axel Muñoz, L L Parker, Paula C. C Guzman +4 more

Establishment of normal myofiber size distribution in children and young adults

Journal of Neuropathology & Experimental Neurology(2025)10.1093/jnen/nlaf123

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0DataRank · unranked

0 citations

Marta Margeta, Karra A. Jones, Benedikt Schoser, Jennifer Cotter, Veena Rajaram +17 more