Edward K. Novak

Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1)

Wei Li, Qing Zhang, Naoki Oiso et al. · Nature Genetics · 2003 · 431 citations · Full text

Mendelian Disorder, Genetics, Molecular Genetics +4

A mutation in <i>Rab27a</i> causes the vesicle transport defects observed in <i>ashen</i> mice

Scott M. Wilson, Richard Yip, Deborah A. Swing et al. · Proceedings of the National Academy of Sciences · 2000 · 409 citations

Knockout Mouse, Vesicle Transport Defects, Signal Transduction +15

<i>Slc7a11</i> gene controls production of pheomelanin pigment and proliferation of cultured cells

Sreenivasulu Chintala, Wei Li, M. Lynn Lamoreux et al. · Proceedings of the National Academy of Sciences · 2005 · 215 citations

Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6

Qing Zhang, Baohui Zhao, Wei Li et al. · Nature Genetics · 2003 · 190 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

Tamio Suzuki, Wei Li, Qing Zhang et al. · Nature Genetics · 2002 · 181 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +9