Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis

by Kelly A. Rich, Jennifer Roggenbuck, Stephen J. Kolb, Stephen J. Kolb
Published 2021-01-01

Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders

by Alayne P. Meyer, Jennifer Roggenbuck, Samantha LoRusso, John Kissel, Rachel M. Smith, David Kline, W. David Arnold
Published 2020-06-01

A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy

by Jennifer Roggenbuck, Kelly Rich, Ana Morales, Christopher A. Tan, Douglas Eck, Wendy King, Matteo Vatta, Thomas Winder, Bakri Elsheikh, Ray E. Hershberger, John T. Kissel
Published 2019-11-01

Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

by Kelly A. Rich, Tia Moscarello, Carly Siskind, Guy Brock, Christopher A. Tan, Matteo Vatta, Thomas L. Winder, Bakri Elsheikh, Leah Vicini, Brianna Tucker, Marilly Palettas, Ray E. Hershberger, John T. Kissel, Ana Morales, Jennifer Roggenbuck
Published 2020-10-01