Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunitBBIP1(BBS18)

(2013) Sophie Scheidecker et al.   JOURNAL OF MEDICAL GENETICS

Bardet–Biedl syndrome

(2012) Elizabeth Forsythe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet–Biedl syndrome

(2012) Saadullah Khan et al.   GENE

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

(2012) Qihong Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Exome sequencing identifies mutations inLZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

(2012) Vincent Marion et al.   JOURNAL OF MEDICAL GENETICS

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

(2012) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

(2011) Catherine Deveault et al.   HUMAN MUTATION

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat that Traffics Membrane Proteins to Cilia

(2010) Hua Jin et al.   CELL

High incidence of Bardet Biedl syndrome among the Bedouin

(2010) Talaat I. Farag et al.   CLINICAL GENETICS

A dual role for RNA splicing signals

(2010) Guillaume F Chanfreau   EMBO REPORTS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

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

Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes

(2010) Tina Duelund Hjortshøj et al.   HUMAN MUTATION

Bardet-Biedl Syndrome-associated Small GTPase ARL6 (BBS3) Functions at or near the Ciliary Gate and Modulates Wnt Signaling

(2010) Cheryl J. Wiens et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Alternative splicing and evolution: diversification, exon definition and function

(2010) Hadas Keren et al.   NATURE REVIEWS GENETICS

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

(2009) Norann A. Zaghloul et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands

(2008) T D. Hjortshoj et al.   BRITISH JOURNAL OF OPHTHALMOLOGY