In search of triallelism in Bardet–Biedl syndrome

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

(2010) R Shaheen et al.   CLINICAL GENETICS

Autozygome decoded

(2010) Fowzan S. Alkuraya   GENETICS IN MEDICINE

Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

(2010) Sabine Janssen et al.   HUMAN GENETICS

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

(2010) Jean Muller et al.   HUMAN 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

Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example

(2009) Mohamed A. Aldahmesh et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The nonmotile ciliopathies

(2009) Jonathan L Tobin et al.   GENETICS IN MEDICINE

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping

(2009) L. Abu Safieh et al.   JOURNAL OF MEDICAL GENETICS

Assembly of primary cilia

(2008) Lotte B. Pedersen et al.   DEVELOPMENTAL DYNAMICS

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning

(2008) Marwan K. Tayeh et al.   HUMAN MOLECULAR GENETICS

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

(2008) Carmen C Leitch et al.   NATURE GENETICS