Rivka Carmi

Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Eugene D. Carstea, Jill A. Morris, Katherine Coleman et al. · Science · 1997 · 1.5K citations

Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

Roxanne Y. Walder, Daniel Landau, Peter Meyer et al. · Nature Genetics · 2002 · 561 citations

Mendelian Disorder, Genetic Disorder, Genetics +5

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 · 497 citations

Ocular Disease, Developmental Biology, Signal Transduction +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 · 423 citations · Full text

Proteasome Degradation, Linkage Mapping, Genetics +16

Quantifying center bias of observers in free viewing of dynamic natural scenes

Po-He Tseng, Rivka Carmi, Ian Cameron et al. · Journal of Vision · 2009 · 368 citations · Full text