Concepedia

Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis

Anneke I. den Hollander, Robert K. Koenekoop, Suzanne Yzer, Irma López, Maarten Arends, Krysta Voesenek, Marijke N. Zonneveld, Tim M. Strom, Thomas Meitinger, Han G. Brunner,

The American Journal of Human Genetics · 2006 · 676 citations · 17 references

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17

Improved Splice Site Detection in Genie

Martin G. Reese, Frank H. Eeckman, David Kulp et al. · Journal of Computational Biology · 1997 · 1.6K citations

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Improved splice site detection in Genie

Martin G. Reese, Frank H. Eeckman, David Kulp et al. · 1997 · 1.5K citations

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Predictive Identification of Exonic Splicing Enhancers in Human Genes

William G. Fairbrother, Ru‐Fang Yeh, Phillip A. Sharp et al. · Science · 2002 · 1K citations

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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

John A. Sayer, Edgar A. Otto, John F. O’Toole et al. · Nature Genetics · 2006 · 572 citations

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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

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