• <em>BBS1</em> branchpoint variant is associated with non-syndromic retinitis pigmentosa
• <em>Chlamydomonas</em> LZTFL1 mediates phototaxis via controlling BBSome recruitment to the basal body and its reassembly at the ciliary tip
• <em>RPI-1</em> (human <em>DCDC2</em>) displays functional redundancy with Nephronophthisis 4 in regulating cilia biogenesis in <em>C. elegans</em>
• A Case of Laurence Moon Bardet Biedl Syndrome
• A cilia-independent function of BBSome mediated by DLK-MAPK signaling in C. elegans photosensation
• A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity
• A review of standardized high-throughput cardiovascular phenotyping with a link to metabolism in mice
• Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
• Association of circulating miRNAS in patients with Alstrőm and Bardet-Biedl syndromes with clinical course parameters
• Bangladeshi Case Series of Bardet-Biedl Syndrome
• Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population
• Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members
• Bardet-Biedl Syndrome Presenting in Adulthood
• Bardet-Biedl syndrome proteins modulate the release of bioactive extracellular vesicles
• Bardet-Biedl Syndrome With Renal, Cardiac, and Genitourinary Malformations: A Case Report
• Bardet-Biedl syndrome: a case series
• Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins
• BBS genes are involved in accelerated proliferation and early differentiation of BBS-related tissues
• BBS4 protein has basal body/ciliary localization in sensory organs but extra-ciliary localization in oligodendrocytes during human development
• Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome
• Burden of hyperphagia and obesity in Bardet-Biedl syndrome: a multicountry survey
• Carbamazepine drug effect simulating biochemical central hypothyroidism in a patient with Bardet-Biedl syndrome
• Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
• Central precocious puberty occurring in Bardet-Biedl syndrome-10 as a method for self-protection of human reproductive function: A case report
• Cilia-associated wound repair mediated by IFT88 in retinal pigment epithelium
• Ciliary signaling proteins are mislocalized in the brains of Bardet-Biedl syndrome 1-null mice
• Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor
• Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies
• Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
• Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation
• Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10
• Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report
• Critical review of bariatric surgical outcomes in patients with Prader-Willi syndrome and other hyperphagic disorders
• De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of <em>Bbs1</em>
• Definable somatic disorders in overweight children and adolescents
• Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees
• Dental Anomalies in Ciliopathies: Lessons from Patients with <em>BBS2</em>, <em>BBS7,</em> and <em>EVC2</em> Mutations
• Diabetes mellitus in Bardet Biedl syndrome
• Differential Diagnosis and Prognosis of Fetuses with Bilateral Enlarged, Hyperechogenic Kidneys: Renal Volume and Amniotic Fluid Volume with Advancing Gestation
• Diffusion tensor imaging for the study of early renal dysfunction in patients affected by bardet-biedl syndrome
• Disruption of dopamine receptor 1 localization to primary cilia impairs signaling in striatal neurons
• Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model
• Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period
• Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1)
• Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants
• Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
• Fetal ciliopathies: a retrospective observational single-center study
• Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
• Genetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population
• Genetic predisposition to tinnitus in the UK Biobank population
• Genetics of Obesity in Humans: A Clinical Review
• High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
• Joubert syndrome: Molecular basis and treatment
• Laparoscopic Sleeve Gastrectomy in a Morbidly Obese Pediatric Patient With Bardet-Biedl Syndrome
• Leucine zipper transcription factor-like 1 (LZTFL1), an intraflagellar transporter protein 27 (IFT27) associated protein, is required for normal sperm function and male fertility
• Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval
• Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition
• Lymphocyte Polarization During Immune Synapse Assembly: Centrosomal Actin Joins the Game
• Metabolic consequences of skeletal muscle- and liver-specific BBSome deficiency
• Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells
• Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
• Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient
• Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases
• Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation
• Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families
• Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations
• Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review
• Obesity induces resistance to central action of BMP8B through a mechanism involving the BBSome
• Outcomes in children of women with type 2 diabetes exposed to metformin versus placebo during pregnancy (MiTy Kids): a 24-month follow-up of the MiTy randomised controlled trial
• Phenotypic diversity observed in a Chinese patient cohort with biallelic variants in Bardet-Biedl syndrome genes
• POMC Neuron BBSome Regulation of Body Weight is Independent of its Ciliary Function
• Prenatal diagnosis and outcome of fetal hyperechogenic kidneys in the era of antenatal next-generationsequencing
• Prenatal diagnosis of Bardet Biedl Syndrome: A case report
• Prenatal ultrasound in fetuses with polycystic kidney appearance - expanding the diagnostic algorithm
• Primary URECs: a source to better understand the pathology of renal tubular epithelia in pediatric hereditary cystic kidney diseases
• Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results
• Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1
• Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies
• Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration
• Severe Early Onset Obesity due to a Novel Missense Mutation in Exon 3 of the Leptin Gene in an Infant from Northwest India
• Sleep and physical activity patterns in adults and children with Bardet-Biedl syndrome
• STORM imaging reveals the spatial arrangement of transition zone components and IFT particles at the ciliary base in Tetrahymena
• Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1
• T cell-specific deficiency in BBSome component BBS1 interferes with selective immune responses
• The actin-bundling protein Fascin-1 modulates ciliary signalling
• The Bardet-Biedl syndrome complex component BBS1 controls T cell polarity during immune synapse assembly
• The BBSome regulates mitochondria dynamics and function
• The BBSome restricts entry of tagged carbonic anhydrase 6 into the cis-flagellum of Chlamydomonas reinhardtii
• The ciliary transition zone protein TMEM218 synergistically interacts with the NPHP module and its reduced dosage leads to a wide range of syndromic ciliopathies
• The efficacy and safety of setmelanotide in individuals with Bardet-Biedl syndrome or Alström syndrome: Phase 3 trial design
• Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts
• TRIM32: A Multifunctional Protein Involved in Muscle Homeostasis, Glucose Metabolism, and Tumorigenesis
• TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice
• Two novel variants in a Bardet-Biedl syndrome type 5 patient with severe renal phenotype
• Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach
• Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients
• Usher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins
• Vangl2 participates in the primary ciliary assembly under low fluid shear stress in hUVECs
• Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants
• Weight loss with glucagon-like peptide-1 receptor agonists in Bardet-Biedl syndrome