Steven Moore

Professor

University of Iowa Healthcare

United States

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Professor Steven Moore is a faculty member at the University of Iowa Health Care in the United States. His research primarily focuses on genetic variants associated with muscular dystrophies and related disorders, as evidenced by his recent articles on SMAD7, dystroglycanopathy, and best practices in genetic diagnostics. Professor Moore’s work also explores the implications of genetic findings in pediatric and adult patients, contributing significantly to the understanding of neuromuscular diseases.

Articles (18)

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2025

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2022

Collaborators (11)

Lori Wallrath

Professor

The University of Iowa

UNITED STATES

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Pilar Camaño

SPAIN

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The University of Iowa

UNITED STATES

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Karra A Jones

Associate Professor

Duke University

UNITED STATES

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Julie Saba

Professor

University of California, San Francisco

UNITED STATES

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Steven Moore

Research Interests

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Articles (18)

A genetic variant in <i>SMAD7</i> acts as a modifier of <i>LMNA</i>-associated muscular dystrophy, implicating SMAD signaling as a therapeutic target.

UDP-glucose dehydrogenase variants cause dystroglycanopathy.

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

A pineal region mass in a 55-year-old female.

Eosinophilic granulomatosis with polyangiitis and its association with montelukast: a case-based review.

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

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

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

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

Ventriculus terminalis cyst in an infant: a case report.

Elevated aminotransferases in a 62-year-old woman.

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

Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With <i>SMCHD1</i> Variants.

Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.

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

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

Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy

Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in <i>FKRP</i> Gene.

Collaborators (11)

Lori Wallrath

Pilar Camaño

Pamela K. Geyer

Jeffrey Statland

Nicolas Wein

Payam Mohassel

Osorio Lopes Abath Neto

Miles Pufall

Petar Lenert

Karra A Jones

Julie Saba

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