Concepedia

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy

Alberta A. H. J. Thiadens, T. My Lan Phan, Renate C. Zekveld-Vroon, Bart P. Leroy, L. Ingeborgh van den Born, Carel B. Hoyng, Caroline C. W. Klaver, Susanne Roosing, Jan-Willem R. Pott, Mary J. van Schooneveld,

Ophthalmology · 2012 · 137 citations · 32 references

DOI

Concepts

References

32

Targeted capture and massively parallel sequencing of 12 human exomes

Sarah Ng, Emily H. Turner, Peggy D. Robertson et al. · Nature · 2009 · 2K citations · Full text

, , +9

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Murim Choi, Ute I. Scholl, Weizhen Ji et al. · Proceedings of the National Academy of Sciences · 2009 · 1.3K citations · Full text

, , +17

ISCEV Standard for full-field clinical electroretinography (2008 update)

Michael F. Marmor, Anne B. Fulton, Graham E. Holder et al. · Documenta Ophthalmologica · 2008 · 1K citations · Full text

, , +4

Insights into the Function of Rim Protein in Photoreceptors and Etiology of Stargardt's Disease from the Phenotype in abcr Knockout Mice

Jian Weng, Nathan L. Mata, Sassan M. Azarian et al. · Cell · 1999 · 882 citations · Full text

, , +14

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

F. P. M. Cremers · Human Molecular Genetics · 1998 · 554 citations

, , +17