Stephen A. Damiani

Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

Ryan J. Taft, Adeline Vanderver, Richard J. Leventer et al. · The American Journal of Human Genetics · 2013 · 184 citations · Full text

Neuroregeneration, Spinal Cord Injury, Amyotrophic Lateral Sclerosis +12

Toward clinical genomics in everyday medicine: perspectives and recommendations

Susan Delaney, Michael Hultner, Howard J. Jacob et al. · Expert Review of Molecular Diagnostics · 2016 · 104 citations · Full text

Sequencing, Health Informatics, Translational Bioinformatics +15

Disease specific therapies in leukodystrophies and leukoencephalopathies

Guy Helman, Keith Van Haren, Joshua L. Bonkowsky et al. · Molecular Genetics and Metabolism · 2015 · 54 citations · Full text

Neurobiology Of Disease, Autoimmune Disease, Disease Mechanism +6

Participant-Driven Matchmaking in the Genomic Era

Katherine Lambertson, Stephen A. Damiani, Matthew Might et al. · Human Mutation · 2015 · 33 citations · Full text

Genetics, Genetic Epidemiology, Genomics +18