Meta‐analysis of genotype‐phenotype associations in Bardet‐Biedl syndrome uncovers differences among causative genes

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome

(2019) Ohad Wormser et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The Bardet–Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export

(2018) Peiwei Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Managing Bardet–Biedl Syndrome—Now and in the Future

(2018) Elizabeth Forsythe et al.   Frontiers in Pediatrics

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion

(2018) Jennifer Reiner et al.   npj Genomic Medicine

Interpreting the clinical significance of combined variants in multiple recessive disease genes: systematic investigation of Joubert syndrome yields little support for oligogenicity

(2017) Ian G Phelps et al.   GENETICS IN MEDICINE

Protein interaction perturbation profiling at amino-acid resolution

(2017) Jonathan Woodsmith et al.   NATURE METHODS

Genes and molecular pathways underpinning ciliopathies

(2017) Jeremy F. Reiter et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes

(2017) Sheila Castro-Sánchez et al.   PLoS One

Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome

(2017) Zhan Qi et al.   Science China-Life Sciences

A recombinant BBSome core complex and how it interacts with ciliary cargo

(2017) Björn Udo Klink et al.   eLife

Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome

(2016) Christina Kamme et al.   ACTA OPHTHALMOLOGICA

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

(2016) Anna Lindstrand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing

(2016) Tomohiko Yamamura et al.   Clinical and Experimental Nephrology

Molecular genetic analysis of 30 families with Joubert syndrome

(2016) T. Suzuki et al.   CLINICAL GENETICS

Genetics of human Bardet-Biedl syndrome, an updates

(2016) S.A. Khan et al.   CLINICAL GENETICS

Mutations inC8ORF37cause Bardet Biedl syndrome (BBS21)

(2016) Elise Heon et al.   HUMAN MOLECULAR GENETICS

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome

(2016) Elise Schaefer et al.   JOURNAL OF HUMAN GENETICS

Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome

(2016) Elizabeth Forsythe et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy

(2016) Nils Rahner et al.   OPHTHALMIC GENETICS

C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies

(2016) Arif O. Khan et al.   OPHTHALMIC GENETICS

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

(2016) Maleeha Maria et al.   Scientific Reports

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome

(2015) Sophie Scheidecker et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Bardet Biedl Syndrome

(2015) Amelia Shoemark et al.   CHEST

Liver anomalies as a phenotype parameter of Bardet-Biedl syndrome

(2015) L. Branfield Day et al.   CLINICAL GENETICS

Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome

(2015) E. N. Kerr et al.   CLINICAL GENETICS

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes

(2015) Asli Ece Solmaz et al.   European Journal of Medical Genetics

Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins

(2015) Y. Katoh et al.   JOURNAL OF CELL SCIENCE

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families

(2015) Sheila Castro-Sánchez et al.   JOURNAL OF MEDICAL GENETICS

Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet–Biedl syndrome

(2015) Poppy Datta et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of Compound Heterozygous Mutations in theBBS7Gene in a Korean Family with Bardet-Biedl Syndrome

(2015) Seok Joon Shin et al.   Annals of Laboratory Medicine

mice: Multivariate Imputation by Chained Equations inR

(2015) Stef van Buuren et al.   Journal of Statistical Software

Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

(2014) Anna Lindstrand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity

(2014) Elaine T. Lim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort

(2014) C. Sathya Priya et al.   CLINICAL GENETICS

Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome

(2014) J.-J. Braun et al.   CLINICAL GENETICS

Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome

(2014) E. Forsythe et al.   CLINICAL GENETICS

Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome

(2014) Kinga M. Bujakowska et al.   HUMAN MOLECULAR GENETICS

Bardet–Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein

(2014) Xuefeng Su et al.   HUMAN MOLECULAR GENETICS

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

(2014) M. A. Aldahmesh et al.   HUMAN MOLECULAR GENETICS

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

(2014) Zohreh Fattahi et al.   JOURNAL OF HUMAN GENETICS

Structural basis for membrane targeting of the BBSome by ARL6

(2014) André Mourão et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome

(2013) Danielle D. Brinckman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

(2013) Amy Farmer et al.   BMC Pediatrics

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

(2013) O. M'hamdi et al.   CLINICAL GENETICS

Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients withLZTFL1(BBS17) mutations

(2013) E. Schaefer et al.   CLINICAL GENETICS

Carrier frequency of twoBBS2mutations in the Ashkenazi population

(2013) A. Fedick et al.   CLINICAL GENETICS

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet–Biedl syndrome in a Pakistani family

(2013) Zehra Agha et al.   GENE

BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking

(2013) Q. Zhang et al.   JOURNAL OF CELL SCIENCE

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

Evolution of modular intraflagellar transport from a coatomer-like progenitor

(2013) T. J. P. van Dam et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuropeptide Y Family Receptors Traffic via the Bardet-Biedl Syndrome Pathway to Signal in Neuronal Primary Cilia

(2013) Alexander V. Loktev et al.   Cell Reports

Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family

(2013) María González-del Pozo et al.   Molecular Genetics & Genomic Medicine

Genotype-Phenotype Correlations in Bardet-Biedl Syndrome

(2012) Anthony B. Daniels et al.   ARCHIVES OF OPHTHALMOLOGY

BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

(2012) Alejandro Estrada-Cuzcano et al.   ARCHIVES OF OPHTHALMOLOGY

Bardet–Biedl syndrome

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

In search of triallelism in Bardet–Biedl syndrome

(2012) Leen Abu-Safieh 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

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

(2012) Qihong Zhang et al.   HUMAN MOLECULAR GENETICS

Molecular characterization of Joubert syndrome in Saudi Arabia

(2012) Anas M. Alazami et al.   HUMAN MUTATION

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

Mutational Analysis of SDCCAG8 in Bardet-Biedl Syndrome Patients with Renal Involvement and Absent Polydactyly

(2012) Gail Billingsley et al.   OPHTHALMIC GENETICS

Phenotypic expression of Bardet–Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene

(2012) Kyle F. Cox et al.   VISION RESEARCH

Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

(2011) Alejandro Estrada-Cuzcano et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia

(2011) V Bennouna-Greene et al.   CLINICAL 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

Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies

(2011) Moumita Chaki et al.   KIDNEY INTERNATIONAL

Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting

(2011) A. L. D. Tadenev et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

(2011) Q. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A systems-biology approach to understanding the ciliopathy disorders

(2011) Ji Eun Lee et al.   Genome Medicine

A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa

(2010) S. Amer Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome

(2010) Kate Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2010) Hua Jin et al.   CELL

A founder mutation inBBS2is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders

(2010) AM Innes et al.   CLINICAL GENETICS

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes

(2010) Elise Schaefer et al.   European Journal of Medical Genetics

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

(2010) Sabine Janssen 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

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

(2010) G. Billingsley et al.   JOURNAL OF MEDICAL GENETICS

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto 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

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

(2010) S. Seo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

(2009) Seongjin Seo et al.   HUMAN MOLECULAR GENETICS

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

(2009) H. M. Harville et al.   JOURNAL OF MEDICAL GENETICS

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

Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement

(2009) David Moher et al.   PLOS 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

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

(2008) Kamal Rahmouni et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2008) Carmen C Leitch et al.   NATURE GENETICS

Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

(2008) N. F. Berbari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MKKS Is a Centrosome-shuttling Protein Degraded by Disease-causing Mutations via CHIP-mediated Ubiquitination

(2007) Shoshiro Hirayama et al.   MOLECULAR BIOLOGY OF THE CELL

Retinal morphology in patients with BBS1 and BBS10 related Bardet–Biedl Syndrome evaluated by Fourier-domain optical coherence tomography

(2007) Christina Gerth et al.   VISION RESEARCH