• A Case of Laurence Moon Bardet Biedl Syndrome
• A review of standardized high-throughput cardiovascular phenotyping with a link to metabolism in mice
• Bardet-Biedl Syndrome Overview
• Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons
• Behavioral Phenotyping of Bbs6 and Bbs8 Knockout Mice Reveals Major Alterations in Communication and Anxiety
• Burden of hyperphagia and obesity in Bardet-Biedl syndrome: a multicountry survey
• Caregiver burden in Bardet-Biedl syndrome: findings from the CARE-BBS study
• Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51)
• Genetic Obesity Disorders: Body Mass Index Trajectories and Age of Onset of Obesity Compared with Children with Obesity from the General Population
• High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
• Interview-Based Patient- and Caregiver-Reported Experiences of Hunger and Improved Quality of Life with Setmelanotide Treatment in Bardet-Biedl Syndrome
• Multiple Independent Gene Disorders Causing Bardet-Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient
• Next-Generation Sequencing of a Large Gene Panel for Outcome Prediction of Bariatric Surgery in Patients with Severe Obesity
• Nonsyndromic Retinitis Pigmentosa Overview
• 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
• 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
• Vangl2 participates in the primary ciliary assembly under low fluid shear stress in hUVECs