Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 106

1.

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.

N Engl J Med. 2019 May 16;380(20):1918-1928. doi: 10.1056/NEJMoa1803731.

PMID:
31091373
2.

Exome-Based Rare-Variant Analyses in CKD.

Cameron-Christie S, Wolock CJ, Groopman E, Petrovski S, Kamalakaran S, Povysil G, Vitsios D, Zhang M, Fleckner J, March RE, Gelfman S, Marasa M, Li Y, Sanna-Cherchi S, Kiryluk K, Allen AS, Fellström BC, Haefliger C, Platt A, Goldstein DB, Gharavi AG.

J Am Soc Nephrol. 2019 Jun;30(6):1109-1122. doi: 10.1681/ASN.2018090909. Epub 2019 May 13.

PMID:
31085678
3.

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.

Genet Med. 2019 May 1. doi: 10.1038/s41436-019-0528-8. [Epub ahead of print]

PMID:
31040387
4.

Precision Medicine in Internal Medicine.

Kiryluk K, Goldstein DB, Rowe JW, Gharavi AG, Wapner R, Chung WK.

Ann Intern Med. 2019 Apr 30. doi: 10.7326/M18-0425. [Epub ahead of print]

PMID:
31035290
5.

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.

Genet Med. 2019 Apr 1. doi: 10.1038/s41436-019-0497-y. [Epub ahead of print] Erratum in: Genet Med. 2019 May 1;:.

PMID:
30930462
6.

Expanding opportunities and emerging challenges: broadening the scope of genetic testing in nephrology.

Groopman EE, Gharavi AG.

Kidney Int. 2019 Apr;95(4):743-746. doi: 10.1016/j.kint.2018.12.032.

PMID:
30904063
7.

Health-related quality of life in glomerular disease.

Canetta PA, Troost JP, Mahoney S, Kogon AJ, Carlozzi N, Bartosh SM, Cai Y, Davis TK, Fernandez H, Fornoni A, Gbadegesin RA, Herreshoff E, Mahan JD, Nachman PH, Selewski DT, Sethna CB, Srivastava T, Tuttle KR, Wang CS, Falk RJ, Gharavi AG, Gillespie BW, Greenbaum LA, Holzman LB, Kretzler M, Robinson BM, Smoyer WE, Guay-Woodford LM, Reeve B, Gipson DS; CureGN Consortium.

Kidney Int. 2019 May;95(5):1209-1224. doi: 10.1016/j.kint.2018.12.018. Epub 2019 Feb 27.

PMID:
30898342
8.

Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.

Chiang T, Liu X, Wu TJ, Hu J, Sedlazeck FJ, White S, Schaid D, Andrade M, Jarvik GP, Crosslin D, Stanaway I, Carrell DS, Connolly JJ, Hakonarson H, Groopman EE, Gharavi AG, Fedotov A, Bi W, Leduc MS, Murdock DR, Jiang Y, Meng L, Eng CM, Wen S, Yang Y, Muzny DM, Boerwinkle E, Salerno W, Venner E, Gibbs RA.

Genet Med. 2019 Mar 20. doi: 10.1038/s41436-019-0475-4. [Epub ahead of print]

PMID:
30890783
9.

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasa M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simoes-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S.

Nat Genet. 2019 Apr;51(4):764. doi: 10.1038/s41588-019-0376-0.

PMID:
30816350
10.

Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

Morris AP, Le TH, Wu H, Akbarov A, van der Most PJ, Hemani G, Smith GD, Mahajan A, Gaulton KJ, Nadkarni GN, Valladares-Salgado A, Wacher-Rodarte N, Mychaleckyj JC, Dueker ND, Guo X, Hai Y, Haessler J, Kamatani Y, Stilp AM, Zhu G, Cook JP, Ärnlöv J, Blanton SH, de Borst MH, Bottinger EP, Buchanan TA, Cechova S, Charchar FJ, Chu PL, Damman J, Eales J, Gharavi AG, Giedraitis V, Heath AC, Ipp E, Kiryluk K, Kramer HJ, Kubo M, Larsson A, Lindgren CM, Lu Y, Madden PAF, Montgomery GW, Papanicolaou GJ, Raffel LJ, Sacco RL, Sanchez E, Stark H, Sundstrom J, Taylor KD, Xiang AH, Zivkovic A, Lind L, Ingelsson E, Martin NG, Whitfield JB, Cai J, Laurie CC, Okada Y, Matsuda K, Kooperberg C, Chen YI, Rundek T, Rich SS, Loos RJF, Parra EJ, Cruz M, Rotter JI, Snieder H, Tomaszewski M, Humphreys BD, Franceschini N.

Nat Commun. 2019 Jan 3;10(1):29. doi: 10.1038/s41467-018-07867-7.

11.

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.

N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.

PMID:
30586318
12.

The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasà M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simões-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S.

Nat Genet. 2019 Jan;51(1):117-127. doi: 10.1038/s41588-018-0281-y. Epub 2018 Dec 21. Erratum in: Nat Genet. 2019 Apr;51(4):764.

PMID:
30578417
13.

The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing.

Rasouly HM, Groopman EE, Heyman-Kantor R, Fasel DA, Mitrotti A, Westland R, Bier L, Weng C, Ren Z, Copeland B, Krithivasan P, Chung WK, Sanna-Cherchi S, Goldstein DB, Gharavi AG.

Ann Intern Med. 2018 Nov 27. doi: 10.7326/M18-1241. [Epub ahead of print]

PMID:
30476936
14.

Clinical Characteristics and Treatment Patterns of Children and Adults With IgA Nephropathy or IgA Vasculitis: Findings From the CureGN Study.

Selewski DT, Ambruzs JM, Appel GB, Bomback AS, Matar RB, Cai Y, Cattran DC, Chishti AS, D'Agati VD, D'Alessandri-Silva CJ, Gbadegesin RA, Hogan JJ, Iragorri S, Jennette JC, Julian BA, Khalid M, Lafayette RA, Liapis H, Lugani F, Mansfield SA, Mason S, Nachman PH, Nast CC, Nester CM, Noone DG, Novak J, O'Shaughnessy MM, Reich HN, Rheault MN, Rizk DV, Saha MK, Sanghani NS, Sperati CJ, Sreedharan R, Srivastava T, Swiatecka-Urban A, Twombley K, Vasylyeva TL, Weaver DJ, Yin H, Zee J, Falk RJ, Gharavi AG, Gillespie BW, Gipson DS, Greenbaum LA, Holzman LB, Kretzler M, Robinson BM, Smoyer WE, Flessner M, Guay-Woodford LM, Kiryluk K; CureGN Consortium.

Kidney Int Rep. 2018 Aug 3;3(6):1373-1384. doi: 10.1016/j.ekir.2018.07.021. eCollection 2018 Nov.

15.

CureGN Study Rationale, Design, and Methods: Establishing a Large Prospective Observational Study of Glomerular Disease.

Mariani LH, Bomback AS, Canetta PA, Flessner MF, Helmuth M, Hladunewich MA, Hogan JJ, Kiryluk K, Nachman PH, Nast CC, Rheault MN, Rizk DV, Trachtman H, Wenderfer SE, Bowers C, Hill-Callahan P, Marasa M, Poulton CJ, Revell A, Vento S, Barisoni L, Cattran D, D'Agati V, Jennette JC, Klein JB, Laurin LP, Twombley K, Falk RJ, Gharavi AG, Gillespie BW, Gipson DS, Greenbaum LA, Holzman LB, Kretzler M, Robinson B, Smoyer WE, Guay-Woodford LM; CureGN Consortium.

Am J Kidney Dis. 2019 Feb;73(2):218-229. doi: 10.1053/j.ajkd.2018.07.020. Epub 2018 Nov 9.

PMID:
30420158
16.

The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype.

Stanaway IB, Hall TO, Rosenthal EA, Palmer M, Naranbhai V, Knevel R, Namjou-Khales B, Carroll RJ, Kiryluk K, Gordon AS, Linder J, Howell KM, Mapes BM, Lin FTJ, Joo YY, Hayes MG, Gharavi AG, Pendergrass SA, Ritchie MD, de Andrade M, Croteau-Chonka DC, Raychaudhuri S, Weiss ST, Lebo M, Amr SS, Carrell D, Larson EB, Chute CG, Rasmussen-Torvik LJ, Roy-Puckelwartz MJ, Sleiman P, Hakonarson H, Li R, Karlson EW, Peterson JF, Kullo IJ, Chisholm R, Denny JC, Jarvik GP; eMERGE Network, Crosslin DR.

Genet Epidemiol. 2019 Feb;43(1):63-81. doi: 10.1002/gepi.22167. Epub 2018 Oct 8.

17.

Donor's APOL1 Risk Genotype and "Second Hits" Associated With De Novo Collapsing Glomerulopathy in Deceased Donor Kidney Transplant Recipients: A Report of 5 Cases.

Chang JH, Husain SA, Santoriello D, Stokes MB, Miles CD, Foster KW, Li Y, Dale LA, Crew RJ, Cohen DJ, Kiryluk K, Gharavi AG, Mohan S.

Am J Kidney Dis. 2019 Jan;73(1):134-139. doi: 10.1053/j.ajkd.2018.05.008. Epub 2018 Jul 25.

PMID:
30054024
18.

Whole-Exome Sequencing in Adults With Chronic Kidney Disease.

Kiryluk K, Groopman E, Rasouly H, Garcia CK, Gharavi AG.

Ann Intern Med. 2018 Jul 17;169(2):132-133. doi: 10.7326/L18-0207. No abstract available.

PMID:
30014107
19.

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.

Am J Hum Genet. 2018 Jul 5;103(1):58-73. doi: 10.1016/j.ajhg.2018.05.010. Epub 2018 Jun 28.

20.

Cellular recording devices imprint the history of the cell.

Steers NJ, Gharavi AG.

Nat Rev Nephrol. 2018 Aug;14(8):477-478. doi: 10.1038/s41581-018-0012-8. No abstract available.

PMID:
29717191

Supplemental Content

Loading ...
Support Center