Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

By A. D. den Hollander, R. Koenekoop, S. Yzer, I. Lopez, M. Arends, K. Voesenek, Marijke N. Zonneveld, T. Strom, T. Meitinger, H. Brunner and 4 more. American Journal of Human Genetics, 2006

670 citations recorded by the source corpus.

Subfields: Molecular Biology, Ophthalmology

View Paper: https://www.semanticscholar.org/paper/5cfe2efafdd3f4042ef90a4207643971fa4d95d9

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The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

1. R. Roepman
2. A. D. den Hollander
3. F. Cremers
4. R. Koenekoop

Citations in the corpus

• Leber congenital amaurosis: genes, proteins and disease mechanisms. (2008, background): “Mutations in the CEP290 (NPHP6) gene can cause SLSN, JBTS, BBS, and MKS (Sayer et al., 2006; Valente et al., 2006; Baala et al., 2007; Frank et al., 2007; Helou et al., 2007; Leitch et al., 2008), and have also been found to be a frequent cause of LCA (den Hollander et al., 2006).”