Concepedia

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Heleen H. Arts, Dan Doherty, Sylvia E. C. van Beersum, Melissa A. Parisi, Stef J.F. Letteboer, Nicholas T. Gorden, Theo Peters, Tina Märker, Krysta Voesenek, Aileen Kartono,

Nature Genetics · 2007 · 321 citations · 30 references

DOI

Concepts

References

30

Predicting Deleterious Amino Acid Substitutions

Pauline C. Ng, Steven Henikoff · Genome Research · 2001 · 2.7K citations · Full text

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Human non-synonymous SNPs: server and survey

Vasily Ramensky · Nucleic Acids Research · 2002 · 2.3K citations · Full text

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

Anneke I. den Hollander, Robert K. Koenekoop, Suzanne Yzer et al. · The American Journal of Human Genetics · 2006 · 676 citations · Full text

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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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Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome

Russell J. Ferland, Wafaa Eyaid, Randall V. Collura et al. · Nature Genetics · 2004 · 412 citations · Full text

, , +16