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Genomic Disorders in CKD across the Lifespan.
Verbitsky M, Krishnamurthy S, Krithivasan P, Hughes D, Khan A, Marasà M, Vena N, Khosla P, Zhang J, Lim TY, Glessner JT, Weng C, Shang N, Shen Y, Hripcsak G, Hakonarson H, Ionita-Laza I, Levy B, Kenny EE, Loos RJF, Kiryluk K, Sanna-Cherchi S, Crosslin DR, Furth S, Warady BA, Igo RP Jr, Iyengar SK, Wong CS, Parsa A, Feldman HI, Gharavi AG. Verbitsky M, et al. J Am Soc Nephrol. 2023 Apr 1;34(4):607-618. doi: 10.1681/ASN.2022060725. Epub 2022 Oct 27. J Am Soc Nephrol. 2023. PMID: 36302597 Free PMC article.
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S. Besse W, et al. J Clin Invest. 2017 May 1;127(5):1772-1785. doi: 10.1172/JCI90129. Epub 2017 Apr 4. J Clin Invest. 2017. PMID: 28375157 Free PMC article.
Isolated polycystic liver disease genes define effectors of polycystin-1 function.
Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S. Besse W, et al. J Clin Invest. 2017 Sep 1;127(9):3558. doi: 10.1172/JCI96729. Epub 2017 Sep 1. J Clin Invest. 2017. PMID: 28862642 Free PMC article.
Duplication of The SOX3 Gene in an Sry-negative 46,XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature.
Tasic V, Mitrotti A, Riepe FG, Kulle AE, Laban N, Polenakovic M, Plaseska-Karanfilska D, Sanna-Cherchi S, Kostovski M, Gucev Z. Tasic V, et al. Balkan J Med Genet. 2019 Aug 28;22(1):81-88. doi: 10.2478/bjmg-2019-0006. eCollection 2019 Jun. Balkan J Med Genet. 2019. PMID: 31523625 Free PMC article.
Apolipoprotein E in idiopathic nephrotic syndrome and focal segmental glomerulosclerosis.
Bruschi M, Catarsi P, Candiano G, Rastaldi MP, Musante L, Scolari F, Artero M, Carraro M, Carrea A, Caridi G, Zennaro C, Sanna-Cherchi S, Viola FB, Ferrario F, Perfumo F, Ghiggeri GM. Bruschi M, et al. Kidney Int. 2003 Feb;63(2):686-95. doi: 10.1046/j.1523-1755.2003.00777.x. Kidney Int. 2003. PMID: 12631135 Free article.
102 results