TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

(2010) Enza Maria Valente et al.   NATURE GENETICS

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

(2010) Carrie M Louie et al.   NATURE GENETICS

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

(2010) N. A. Zaghloul et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional modules, mutational load and human genetic disease

(2010) Norann A. Zaghloul et al.   TRENDS IN GENETICS

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

(2009) E A Otto et al.   JOURNAL OF MEDICAL GENETICS

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

(2008) Carsten Bergmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

(2008) Nicholas T. Gorden et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2008) Carmen C Leitch et al.   NATURE GENETICS

THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

(2008) Pamela V Tran et al.   NATURE GENETICS