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Page 1
Diagnostic Utility of Exome Sequencing for Kidney Disease.
Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P, Lam WY, Mitrotti A, Piva S, Kil BH, Chatterjee D, Reingold R, Bradbury D, DiVecchia M, Snyder H, Mu X, Mehl K, Balderes O, Fasel DA, Weng C, Radhakrishnan J, Canetta P, Appel GB, Bomback AS, Ahn W, Uy NS, Alam S, Cohen DJ, Crew RJ, Dube GK, Rao MK, Kamalakaran S, Copeland B, Ren Z, Bridgers J, Malone CD, Mebane CM, Dagaonkar N, Fellström BC, Haefliger C, Mohan S, Sanna-Cherchi S, Kiryluk K, Fleckner J, March R, Platt A, Goldstein DB, Gharavi AG. Groopman EE, et al. Among authors: mehl k. N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26. N Engl J Med. 2019. PMID: 30586318 Free PMC article.
An atlas of healthy and injured cell states and niches in the human kidney.
Lake BB, Menon R, Winfree S, Hu Q, Melo Ferreira R, Kalhor K, Barwinska D, Otto EA, Ferkowicz M, Diep D, Plongthongkum N, Knoten A, Urata S, Mariani LH, Naik AS, Eddy S, Zhang B, Wu Y, Salamon D, Williams JC, Wang X, Balderrama KS, Hoover PJ, Murray E, Marshall JL, Noel T, Vijayan A, Hartman A, Chen F, Waikar SS, Rosas SE, Wilson FP, Palevsky PM, Kiryluk K, Sedor JR, Toto RD, Parikh CR, Kim EH, Satija R, Greka A, Macosko EZ, Kharchenko PV, Gaut JP, Hodgin JB; KPMP Consortium; Eadon MT, Dagher PC, El-Achkar TM, Zhang K, Kretzler M, Jain S. Lake BB, et al. Nature. 2023 Jul;619(7970):585-594. doi: 10.1038/s41586-023-05769-3. Epub 2023 Jul 19. Nature. 2023. PMID: 37468583 Free PMC article.
The chromatin landscape of healthy and injured cell types in the human kidney.
Gisch DL, Brennan M, Lake BB, Basta J, Keller MS, Melo Ferreira R, Akilesh S, Ghag R, Lu C, Cheng YH, Collins KS, Parikh SV, Rovin BH, Robbins L, Stout L, Conklin KY, Diep D, Zhang B, Knoten A, Barwinska D, Asghari M, Sabo AR, Ferkowicz MJ, Sutton TA, Kelly KJ, De Boer IH, Rosas SE, Kiryluk K, Hodgin JB, Alakwaa F, Winfree S, Jefferson N, Türkmen A, Gaut JP, Gehlenborg N, Phillips CL, El-Achkar TM, Dagher PC, Hato T, Zhang K, Himmelfarb J, Kretzler M, Mollah S; Kidney Precision Medicine Project (KPMP); Jain S, Rauchman M, Eadon MT. Gisch DL, et al. Nat Commun. 2024 Jan 10;15(1):433. doi: 10.1038/s41467-023-44467-6. Nat Commun. 2024. PMID: 38199997 Free PMC article.
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis.
Xie J, Liu L, Mladkova N, Li Y, Ren H, Wang W, Cui Z, Lin L, Hu X, Yu X, Xu J, Liu G, Caliskan Y, Sidore C, Balderes O, Rosen RJ, Bodria M, Zanoni F, Zhang JY, Krithivasan P, Mehl K, Marasa M, Khan A, Ozay F, Canetta PA, Bomback AS, Appel GB, Sanna-Cherchi S, Sampson MG, Mariani LH, Perkowska-Ptasinska A, Durlik M, Mucha K, Moszczuk B, Foroncewicz B, Pączek L, Habura I, Ars E, Ballarin J, Mani LY, Vogt B, Ozturk S, Yildiz A, Seyahi N, Arikan H, Koc M, Basturk T, Karahan G, Akgul SU, Sever MS, Zhang D, Santoro D, Bonomini M, Londrino F, Gesualdo L, Reiterova J, Tesar V, Izzi C, Savoldi S, Spotti D, Marcantoni C, Messa P, Galliani M, Roccatello D, Granata S, Zaza G, Lugani F, Ghiggeri G, Pisani I, Allegri L, Sprangers B, Park JH, Cho B, Kim YS, Kim DK, Suzuki H, Amoroso A, Cattran DC, Fervenza FC, Pani A, Hamilton P, Harris S, Gupta S, Cheshire C, Dufek S, Issler N, Pepper RJ, Connolly J, Powis S, Bockenhauer D, Stanescu HC, Ashman N, Loos RJF, Kenny EE, Wuttke M, Eckardt KU, Köttgen A, Hofstra JM, Coenen MJH, Kiemeney LA, Akilesh S, Kretzler M, Beck LH, Stengel B, Debiec H, Ronco P, Wetzels JFM, Zoledziewska M, Cucca F, Ionita-Laza I, Lee H, Hoxha E, Stahl RAK, Brenchley P, … See abstract for full author list ➔ Xie J, et al. Among authors: mehl k. Nat Commun. 2020 Mar 30;11(1):1600. doi: 10.1038/s41467-020-15383-w. Nat Commun. 2020. PMID: 32231244 Free PMC article.
Exome analysis links kidney malformations to developmental disorders and reveals causal genes.
Milo Rasouly H, Krishna Murthy SB, Vena N, Povysil G, Beenken A, Verbitsky M, Shril S, Lekkerkerker I, Yang S, Khan A, Fasel D, Wongboonsin J, Martino J, Ke J, Elefant N, Tomar N, Harnof O, Kisselev S, Bheda S, Reytan-Miron S, Lim TY, Jamry-Dziurla A, Lugani F, Zhang JY, Marasa M, Kolupaeva V, Groopman EE, Jin G, Ghavami I, Stevens KO, Coughlin AC, Kil BH, Chatterjee D, Bradbury D, Zheng J, Mehl K, Morban M, Reingold R, Piva S, Mu X, Mittrori A, Szmigielska A, Gliwińska A, Ranghino A, Bomback AS, Badenski A, Latos-Bielenska A, Capone V, Materna-Kiryluk A, Amoroso A, Izzi C, La Scola C, Cohen DJ, Santoro D, Drozdz D, Fiaccadori E, Lin F, Scolari F, Tondolo F, La Manna G, Appel GB, Ghiggeri GM, Zaza G, Montini G, Masnata G, Krzemien G, Pisani I, Radhakrishnan J, Zachwieja K, Gesualdo L, Biancone L, Meneghesso D, Mizerska-Wasiak M, Tkaczyk M, Zaniew M, Borszewska-Kornacka MK, Szczepanska M, Saraga M, Rao MK, Bodria M, Miklaszewska M, Uy NS, Baraldi O, Bjanid O, Esposito P, Zamboli P, Marzuillo P, Canetta PA, Sikora P, Westland R, Crew RJ, Alam S, Guarino S, Negrisolo S, Hays T, Mane S, Grandinetti V, Tasic V, Lozanovski VJ, Caliskan Y, Goldstein D, Lifton RP, Ionita-Laza I, Ki… See abstract for full author list ➔ Milo Rasouly H, et al. Among authors: mehl k. Nat Commun. 2025 Aug 7;16(1):7290. doi: 10.1038/s41467-025-62319-3. Nat Commun. 2025. PMID: 40774958 Free PMC article.
Patient perspectives and involvement in precision medicine research.
Tuttle KR, Bebiak J, Brown K, Campbell C, Dighe A, Hyashi L, Jefferson N, Roberts GV, Stutzke C, Knight R; Kidney Precision Medicine Project. Tuttle KR, et al. Kidney Int. 2021 Mar;99(3):511-514. doi: 10.1016/j.kint.2020.10.036. Kidney Int. 2021. PMID: 33637195 Free article.
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.
Protein N -Glycans in Healthy and Sclerotic Glomeruli in Diabetic Kidney Disease.
Veličković D, Shapiro JP, Parikh SV, Rovin B, Toto RD, Vazquez MA, Poggio ED, O'Toole JF, Sedor JR, Alexandrov T, Jain S, Bitzer M, Hodgin J, Veličković M, Sharma K, Anderton CR; Kidney Precision Medicine Project. Veličković D, et al. J Am Soc Nephrol. 2024 Sep 1;35(9):1198-1207. doi: 10.1681/ASN.0000000000000393. Epub 2024 May 21. J Am Soc Nephrol. 2024. PMID: 38771634 Free PMC article.
Participant Experience with Protocol Research Kidney Biopsies in the Kidney Precision Medicine Project.
Victoria-Castro AM, Corona-Villalobos CP, Xu AY, Onul I, Huynh C, Chen SW, Ugwuowo U, Sarkisova N, Dighe AL, Blank KN, Blanc VM, Rose MP, Himmelfarb J, de Boer IH, Tuttle KR, Roberts GV; Kidney Precision Medicine Project. Victoria-Castro AM, et al. Clin J Am Soc Nephrol. 2024 Feb 1;19(2):202-212. doi: 10.2215/CJN.0000000000000334. Epub 2023 Oct 23. Clin J Am Soc Nephrol. 2024. PMID: 37871973 Free PMC article.
41 results