Associated Papers
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
Beryozkin A et al.
Investigative Ophthalmology & Visual Science, 2014
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Coppieters F et al.
Human Mutation, 2010
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Khanna H et al.
Nature Genetics, 2009
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Frank V et al.
Human Mutation, 2008
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Sayer JA et al.
Nature Genetics, 2006
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