• A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome
• A visually guided swim assay for mouse models of human retinal disease recapitulates the multi-luminance mobility test in humans
• 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: Delayed diagnosis in a 14-year-old child with end-stage renal disease
• Editorial: Case Reports in Pediatric Rheumatology 2022
• Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease
• Fetal renal cystic disease and post-natal follow up-a single center experience
• Interview-Based Patient- and Caregiver-Reported Experiences of Hunger and Improved Quality of Life with Setmelanotide Treatment in Bardet-Biedl Syndrome
• Laparoscopic Sleeve Gastrectomy in a Morbidly Obese Pediatric Patient With Bardet-Biedl Syndrome
• Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells
• Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity
• Novel multi-allelic variants, two BBS2 and one PKD1 variant, of renal ciliopathies: A case report and literature review
• 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 and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome
• Primary cilia-associated protein IFT172 in ciliopathies
• Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results
• Review of the phenotypes and genotypes of Bardet-Biedl syndrome from China
• Single-Center Experience of Pediatric Cystic Kidney Disease and Literature Review
• Syndromic and Monogenic Obesity: New Opportunities Due to Genetic-Based Pharmacological Treatment
• Usher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins
• Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants
• Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management