An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant <it>POLG1</it> mutation

by Staropoli John F, Xin Winnie, Barone Rosemary, Cotman Susan L, Sims Katherine B
Published 2012-06-01

Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

by Sommer Claudia, Baron Ralf, Bennett Gary J, Politei Juan M, Sims Katherine B, Burlina Alessandro P, Møller Anette, Hilz Max J
Published 2011-05-01

Panel-based Genetic Diagnostic Testing for Inherited Eye Diseases is Highly Accurate and Reproducible and More Sensitive for Variant Detection Than Exome Sequencing

by Consugar, Mark B., Navarro-Gomez, Daniel, Place, Emily M., Bujakowska, Kinga M., Sousa, Maria E., Fonseca-Kelly, Zoë D., Taub, Daniel G., Janessian, Maria, Wang, Dan Yi, Au, Elizabeth D., Sims, Katherine B., Sweetser, David A., Fulton, Anne B., Liu, Qin, Wiggs, Janey L., Gai, Xiaowu, Pierce, Eric A.
Published 2016

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

by Lieber, Daniel S, Hershman, Steven G, Slate, Nancy G, Calvo, Sarah E, Sims, Katherine B, Schmahmann, Jeremy D, Mootha, Vamsi K
Published 2014