Publications

Melluso et al. Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook. Clin Risk Manag. 2023; 19:115-132. PMID: 36741589.

Dollfus et al. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations. Eur J Hum Genet. 2024 Nov;32(11):1347-1360. PMID: 39085583.

Gupta et al. Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.J Med Genet C Semin Med Genet; 2022;190(1):9-19. PMID: 35373910.

Zacchia et al. Proteomics and metabolomics studies exploring the pathophysiology of renal dysfunction in autosomal dominant polycystic kidney disease and other ciliopathies. Nephrol Dial Transplant. 2020;35(11):1853-1861.PMID: 31219585.

Zacchia et al. The Kidney in Bardet-Biedl Syndrome: Possible Pathogenesis of Urine Concentrating Defect. Kidney Dis. 2017;3(2):57-65.PMID: 28868293.

Zacchia et al. CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology. Kidney Int Rep. 2024 Nov 6;10(2):375-385. PMID: 39990901.

Zacchia et al. Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.Clin Kidney J. 2020;14(6):1545-1551.PMID: 34084454.

Niederlova et al. Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. Hum Mutat 2019;40(11):2068-2087. PMID: 31283077.

Forsythe et al. Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome. J Am Soc Neph 2017; 28(3): 963–970. PMID: 27659767.

Haws et al. Effect of setmelanotide, a melanocortin-4 receptor agonist, on obesity in Bardet-Biedl syndrome. Diabetes Obes Metab. 2020 Nov;22(11):2133-2140. PMID: 32627316.