Susan Slaugenhaupt

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

James R. Lupski, Roberto Montes‐de‐Oca‐Luna, Susan Slaugenhaupt et al. · Cell · 1991 · 1.3K citations

Mendelian Disorder, Genetic Disorder, Genetics +5

A TRP Channel in the Lysosome Regulates Large Particle Phagocytosis via Focal Exocytosis

Mohammad Samie, Xiang Wang, Xiaoli Zhang et al. · Developmental Cell · 2013 · 304 citations · Full text

Molecular Physiology, Signal Transduction, Focal Exocytosis +10

Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3

Wenqi Zeng, Eiman A. Al-Yamani, James S. Acierno et al. · The American Journal of Human Genetics · 2005 · 215 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Medicine +8

The neurogenetics of mucolipidosis type IV

Gheona Altarescu, Mei Sun, Dennis F. Moore et al. · Neurology · 2002 · 177 citations

Rescue of a human mRNA splicing defect by the plant cytokinin kinetin

Susan Slaugenhaupt · Human Molecular Genetics · 2003 · 157 citations

Genetics, Rna Splicing, Molecular Genetics +16