Concepedia

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Carmen C. Leitch, Norann A. Zaghloul, Erica E. Davis, Corinne Stoetzel, Anna Dı́az-Font, Suzanne Rix, Majid Alfadhel, Richard A. Lewis, Wafaa Eyaid, Eyal Banin,

Nature Genetics · 2008 · 397 citations · 25 references

DOI

Concepts

References

25

Human non-synonymous SNPs: server and survey

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

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New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

Philip L. Beales, Nursel Elçioğlu, Adrian S. Woolf et al. · Journal of Medical Genetics · 1999 · 972 citations · Full text

, , +9

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

, , +4

Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

Nicholas Katsanis, Stephen J. Ansley, José L. Badano et al. · Science · 2001 · 655 citations

, , +17

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

, , +6