Ruth E. Swiderski

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate

Neena B. Haider, Samuel G. Jacobson, Artur V. Cideciyan et al. · Nature Genetics · 2000 · 508 citations

Medicine, Genetics, Molecular Genetics +16

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Edwin M. Stone, Andrew Lotery, Francis L. Munier et al. · Nature Genetics · 1999 · 495 citations

Medicine, Genetics, Molecular Genetics +16

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

Darryl Nishimura, Ruth E. Swiderski, Wallace L.M. Alward et al. · Nature Genetics · 1998 · 472 citations

Life Sciences, Genetics, Molecular Genetics +10

Homozygosity mapping with SNP arrays identifies <i>TRIM32</i> , an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene ( <i>BBS11</i> )

Annie Chiang, John S. Beck, Hsan-Jan Yen et al. · Proceedings of the National Academy of Sciences · 2006 · 430 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>Bbs2</i> -null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

Darryl Nishimura, Melissa A. Fath, Robert F. Mullins et al. · Proceedings of the National Academy of Sciences · 2004 · 368 citations

Medicine, Genetics, Molecular Genetics +15