Publications

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

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.

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

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.

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.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.