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Rationale and design of the Kidney Precision Medicine Project.
de Boer IH, Alpers CE, Azeloglu EU, Balis UGJ, Barasch JM, Barisoni L, Blank KN, Bomback AS, Brown K, Dagher PC, Dighe AL, Eadon MT, El-Achkar TM, Gaut JP, Hacohen N, He Y, Hodgin JB, Jain S, Kellum JA, Kiryluk K, Knight R, Laszik ZG, Lienczewski C, Mariani LH, McClelland RL, Menez S, Moledina DG, Mooney SD, O'Toole JF, Palevsky PM, Parikh CR, Poggio ED, Rosas SE, Rosengart MR, Sarwal MM, Schaub JA, Sedor JR, Sharma K, Steck B, Toto RD, Troyanskaya OG, Tuttle KR, Vazquez MA, Waikar SS, Williams K, Wilson FP, Zhang K, Iyengar R, Kretzler M, Himmelfarb J; Kidney Precision Medicine Project. de Boer IH, et al. Kidney Int. 2021 Mar;99(3):498-510. doi: 10.1016/j.kint.2020.08.039. Kidney Int. 2021. PMID: 33637194 Free PMC article.
Mutational analysis in 119 families with nephronophthisis.
O'Toole JF, Otto EA, Hoefele J, Helou J, Hildebrandt F. O'Toole JF, et al. Pediatr Nephrol. 2007 Mar;22(3):366-70. doi: 10.1007/s00467-006-0334-9. Epub 2006 Oct 24. Pediatr Nephrol. 2007. PMID: 17061121
APOL1 localization in normal kidney and nondiabetic kidney disease.
Madhavan SM, O'Toole JF, Konieczkowski M, Ganesan S, Bruggeman LA, Sedor JR. Madhavan SM, et al. J Am Soc Nephrol. 2011 Nov;22(11):2119-28. doi: 10.1681/ASN.2011010069. Epub 2011 Oct 13. J Am Soc Nephrol. 2011. PMID: 21997392 Free PMC article.
Plasma apolipoprotein L1 levels do not correlate with CKD.
Bruggeman LA, O'Toole JF, Ross MD, Madhavan SM, Smurzynski M, Wu K, Bosch RJ, Gupta S, Pollak MR, Sedor JR, Kalayjian RC. Bruggeman LA, et al. J Am Soc Nephrol. 2014 Mar;25(3):634-44. doi: 10.1681/ASN.2013070700. Epub 2013 Nov 14. J Am Soc Nephrol. 2014. PMID: 24231663 Free PMC article.
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Gee HY, Otto EA, Hurd TW, Ashraf S, Chaki M, Cluckey A, Vega-Warner V, Saisawat P, Diaz KA, Fang H, Kohl S, Allen SJ, Airik R, Zhou W, Ramaswami G, Janssen S, Fu C, Innis JL, Weber S, Vester U, Davis EE, Katsanis N, Fathy HM, Jeck N, Klaus G, Nayir A, Rahim KA, Al Attrach I, Al Hassoun I, Ozturk S, Drozdz D, Helmchen U, O'Toole JF, Attanasio M, Lewis RA, Nürnberg G, Nürnberg P, Washburn J, MacDonald J, Innis JW, Levy S, Hildebrandt F. Gee HY, et al. Kidney Int. 2014 Apr;85(4):880-7. doi: 10.1038/ki.2013.450. Epub 2013 Nov 20. Kidney Int. 2014. PMID: 24257694 Free PMC article.
Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.
Sampson MG, Robertson CC, Martini S, Mariani LH, Lemley KV, Gillies CE, Otto EA, Kopp JB, Randolph A, Vega-Warner V, Eichinger F, Nair V, Gipson DS, Cattran DC, Johnstone DB, O'Toole JF, Bagnasco SM, Song PX, Barisoni L, Troost JP, Kretzler M, Sedor JR; Nephrotic Syndrome Study Network. Sampson MG, et al. J Am Soc Nephrol. 2016 Mar;27(3):814-23. doi: 10.1681/ASN.2014111131. Epub 2015 Jul 6. J Am Soc Nephrol. 2016. PMID: 26150607 Free PMC article.
82 results