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Publications by James J. Dowling

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics

English

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

American Journal of Human Genetics

English

Phosphoinositide Regulation of Integrin Trafficking Required for Muscle Attachment and Maintenance

Molecular Biology

Cancer Research

English

RNAseq Analysis for the Diagnosis of Muscular Dystrophy

Annals of Clinical and Translational Neurology

English

Dynamin 2 (DNM2) as Cause Of, and Modifier For, Human Neuromuscular Disease

Neurotherapeutics

English

Clinical, Genetic, and Pathologic Characterization of FKRP Mexican Founder Mutation C.1387A>G

Neurology: Genetics

English

a Novel Intronic Mutation in MTM1 Detected by RNA Analysis in a Case of X-Linked Myotubular Myopathy

Neurology: Genetics

English