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Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Zacchia M, Blanco FDV, Trepiccione F, Blasio G, Torella A, Melluso A, Capolongo G, Pollastro RM, Piluso G, Di Iorio V, Simonelli F, Viggiano D, Perna A, Nigro V, Capasso G. Zacchia M, et al. Among authors: blanco fdv. J Nephrol. 2021 Dec;34(6):1855-1874. doi: 10.1007/s40620-021-01048-4. Epub 2021 May 8. J Nephrol. 2021. PMID: 33964006 Free PMC article.
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.
Zacchia M, Blanco FDV, Torella A, Raucci R, Blasio G, Onore ME, Marchese E, Trepiccione F, Vitagliano C, Iorio VD, Alessandra P, Simonelli F, Nigro V, Capasso G, Viggiano D. Zacchia M, et al. Among authors: blanco fdv. Clin Kidney J. 2020 Dec 6;14(6):1545-1551. doi: 10.1093/ckj/sfaa182. eCollection 2021 Jun. Clin Kidney J. 2020. PMID: 34084454 Free PMC article.