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Page 1
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.
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.
Son JH, Xie G, Yuan C, Ena L, Li Z, Goldstein A, Huang L, Wang L, Shen F, Liu H, Mehl K, Groopman EE, Marasa M, Kiryluk K, Gharavi AG, Chung WK, Hripcsak G, Friedman C, Weng C, Wang K. Son JH, et al. Among authors: mehl k. Am J Hum Genet. 2018 Jul 5;103(1):58-73. doi: 10.1016/j.ajhg.2018.05.010. Epub 2018 Jun 28. Am J Hum Genet. 2018. PMID: 29961570 Free PMC article.
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.
Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.
Milo Rasouly H, Wynn J, Marasa M, Reingold R, Chatterjee D, Kapoor S, Piva S, Kil BH, Mu X, Alvarez M, Nestor J, Mehl K, Revah-Politi A, Lippa N, Ernst ME, Bier L, Espinal A, Haser B, Sinha A, Halim I, Fasel D, Cuneo N, Thompson JJ, Verbitsky M, Cohn EG, Goldman J, Marder K, Klitzman RL, Orjuela MA, So YS, Fedotov A, Crew KD, Kiryluk K, Appelbaum PS, Weng C, Siegel K, Gharavi AG, Chung WK. Milo Rasouly H, et al. Among authors: mehl k. Genet Med. 2019 Oct;21(10):2371-2380. doi: 10.1038/s41436-019-0497-y. Epub 2019 Apr 1. Genet Med. 2019. PMID: 30930462 Free PMC article.
Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.
Rasouly HM, Wynn J, Marasa M, Reingold R, Chatterjee D, Kapoor S, Piva S, Kil BH, Mu X, Alvarez M, Nestor J, Mehl K, Revah-Politi A, Lippa N, Ernst ME, Bier L, Espinal A, Haser B, Sinha A, Halim I, Fasel D, Cuneo N, Thompson JJ, Verbitsky M, Cohn EG, Goldman J, Marder K, Klitzman RL, Orjuela MA, So YS, Fedotov A, Crew KD, Kiryluk K, Appelbaum PS, Weng C, Siegel K, Gharavi AG, Chung WK. Rasouly HM, et al. Among authors: mehl k. Genet Med. 2019 Oct;21(10):2407. doi: 10.1038/s41436-019-0528-8. Genet Med. 2019. PMID: 31040387 Free PMC article.
Genomic Mismatch at LIMS1 Locus and Kidney Allograft Rejection.
Steers NJ, Li Y, Drace Z, D'Addario JA, Fischman C, Liu L, Xu K, Na YJ, Neugut YD, Zhang JY, Sterken R, Balderes O, Bradbury D, Ozturk N, Ozay F, Goswami S, Mehl K, Wold J, Jelloul FZ, Rohanizadegan M, Gillies CE, Vasilescu EM, Vlad G, Ko YA, Mohan S, Radhakrishnan J, Cohen DJ, Ratner LE, Scolari F, Susztak K, Sampson MG, Deaglio S, Caliskan Y, Barasch J, Courtney AE, Maxwell AP, McKnight AJ, Ionita-Laza I, Bakker SJL, Snieder H, de Borst MH, D'Agati V, Amoroso A, Gharavi AG, Kiryluk K. Steers NJ, et al. Among authors: mehl k. N Engl J Med. 2019 May 16;380(20):1918-1928. doi: 10.1056/NEJMoa1803731. N Engl J Med. 2019. PMID: 31091373 Free PMC article.
Medical records-based chronic kidney disease phenotype for clinical care and "big data" observational and genetic studies.
Shang N, Khan A, Polubriaginof F, Zanoni F, Mehl K, Fasel D, Drawz PE, Carrol RJ, Denny JC, Hathcock MA, Arruda-Olson AM, Peissig PL, Dart RA, Brilliant MH, Larson EB, Carrell DS, Pendergrass S, Verma SS, Ritchie MD, Benoit B, Gainer VS, Karlson EW, Gordon AS, Jarvik GP, Stanaway IB, Crosslin DR, Mohan S, Ionita-Laza I, Tatonetti NP, Gharavi AG, Hripcsak G, Weng C, Kiryluk K. Shang N, et al. Among authors: mehl k. NPJ Digit Med. 2021 Apr 13;4(1):70. doi: 10.1038/s41746-021-00428-1. NPJ Digit Med. 2021. PMID: 33850243 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.
32 results