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Browsing by Author Otto, E.A.

Full Text	Issue Date	Title	Author(s)
	2010	Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.	O'Toole, J.F.; Liu, Y.; Davis, E.E.; Westlake, C.J.; Attanasio, M., et al
	2010	AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.	Louie, C.M.; Caridi, G.; Lopes, V.S.; Brancati, F.; Kispert, A., et al
	2010	Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.	Otto, E.A.; Hurd, T.W.; Airik, R.; Chaki, M.; Zhou, W., et al
	2009	A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.	Khanna, H.; Davis, E.E.; Murga-Zamalloa, C.A.; Estrada-Cuzcano, A.; Lopez, I., et al
	2008	CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.	Gorden, N.T.; Arts, H.H.; Parisi, M.A.; Coene, K.L.M.; Letteboer, S.J.F., et al