Pamela S. Karnes

Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of<i>PTC1</i>-like domains in<i>NPC1</i>

Walter D. Park, John F. O’Brien, Patrick A. Lundquist et al. · Human Mutation · 2003 · 212 citations

Genetics, Genetic Epidemiology, Pathology +16

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

Soohyun Kim, Vibeke Westphal, Geetha Srikrishna et al. · Journal of Clinical Investigation · 2000 · 176 citations · Full text

Genetics, Glycobiology, Molecular Biology +20

Cytogenetic analysis of 39 pediatric central nervous system tumors

Pamela S. Karnes, Tuan N. Tran, Floyd H. Gilles · Cancer Genetics and Cytogenetics · 1992 · 121 citations

Valvular heart disease in four patients with Maroteaux-Lamy syndrome.

C.T. Tan, Hartzell V. Schaff, Fletcher A. Miller et al. · Circulation · 1992 · 68 citations · Full text

Identification and Characterization of an Xq26–q27 Duplication in a Family with Spina Bifida and Panhypopituitarism Suggests the Involvement of Two Distinct Genes

Frans A. Hol, Marga Schepens, Sylvia E. C. van Beersum et al. · Genomics · 2000 · 64 citations

Biology, Xq26–q27 Duplication, Cytogenetics +10