James S. Friedman

Update on the Kelch-like (KLHL) gene family

Bajinder S Dhanoa, Tiziana Cogliati, Akhila G. Satish et al. · Human Genomics · 2013 · 273 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Expression profiling of the developing and mature Nrl −/− mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl

Shigeo Yoshida, Alan J. Mears, James S. Friedman et al. · Human Molecular Genetics · 2004 · 182 citations

Life Sciences, Developmental Biology, Molecular Biology +17

Premature Truncation of a Novel Protein, RD3, Exhibiting Subnuclear Localization Is Associated with Retinal Degeneration

James S. Friedman, Bo Chang, Chitra Kannabiran et al. · The American Journal of Human Genetics · 2006 · 123 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +17

Recessive <i>NRL</i> mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function

Koji M. Nishiguchi, James S. Friedman, Michael A. Sandberg et al. · Proceedings of the National Academy of Sciences · 2004 · 108 citations

Medicine, Genetics, Molecular Genetics +17

Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa

James S. Friedman, Joseph W. Ray, Naushin Waseem et al. · The American Journal of Human Genetics · 2009 · 100 citations · Full text

Medicine, Genetics, Molecular Genetics +9