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Publications by Ronald D. Cohn

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease

American Journal of Human Genetics

English

Hibernating Squirrel Muscle Activates the Endurance Exercise Pathway Despite Prolonged Immobilization

Experimental Neurology

Developmental Neuroscience

English

Periodic Reanalysis of Whole-Genome Sequencing Data Enhances the Diagnostic Advantage Over Standard Clinical Genetic Testing

European Journal of Human Genetics

English

Impaired Skeletal Muscle Regeneration in the Absence of Fibrosis During Hibernation in 13-Lined Ground Squirrels

Multidisciplinary

English

MEF2C-related Epilepsy: Delineating the Phenotypic Spectrum From a Novel Mutation and Literature Review

Seizure : the journal of the British Epilepsy Association

English

Outcome of Patients With Inherited Neurotransmitter Disorders

Canadian Journal of Neurological Sciences

English

Disruption of the Β-Sarcoglycan Gene Reveals Pathogenetic Complexity of Limb-Girdle Muscular Dystrophy Type 2E

Molecular Biology

English

Myostatin Does Not Regulate Cardiac Hypertrophy or Fibrosis

Neuromuscular Disorders

English