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Items: 1 to 20 of 91

1.

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. 2018 Oct 8. doi: 10.1002/gepi.22167. [Epub ahead of print]

PMID:
30298529
2.

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. 2018 Jul 25. pii: S0272-6386(18)30709-1. doi: 10.1053/j.ajkd.2018.05.008. [Epub ahead of print]

PMID:
30054024
3.

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
4.

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.

PMID:
29961570
5.

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
6.

Mycophenolate Mofetil in Combination with Steroids for Treatment of C3 Glomerulopathy: A Case Series.

Avasare RS, Canetta PA, Bomback AS, Marasa M, Caliskan Y, Ozluk Y, Li Y, Gharavi AG, Appel GB.

Clin J Am Soc Nephrol. 2018 Mar 7;13(3):406-413. doi: 10.2215/CJN.09080817. Epub 2018 Jan 11.

PMID:
29326307
7.

Genomic medicine for kidney disease.

Groopman EE, Rasouly HM, Gharavi AG.

Nat Rev Nephrol. 2018 Feb;14(2):83-104. doi: 10.1038/nrneph.2017.167. Epub 2018 Jan 8. Review.

PMID:
29307893
8.

Genetic basis of human congenital anomalies of the kidney and urinary tract.

Sanna-Cherchi S, Westland R, Ghiggeri GM, Gharavi AG.

J Clin Invest. 2018 Jan 2;128(1):4-15. doi: 10.1172/JCI95300. Epub 2018 Jan 2. Review.

9.

Inhibition of STAT3 Signaling Reduces IgA1 Autoantigen Production in IgA Nephropathy.

Yamada K, Huang ZQ, Raska M, Reily C, Anderson JC, Suzuki H, Ueda H, Moldoveanu Z, Kiryluk K, Suzuki Y, Wyatt RJ, Tomino Y, Gharavi AG, Weinmann A, Julian BA, Willey CD, Novak J.

Kidney Int Rep. 2017 Jul 19;2(6):1194-1207. doi: 10.1016/j.ekir.2017.07.002. eCollection 2017 Nov.

10.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.

Am J Hum Genet. 2017 Dec 7;101(6):1034. doi: 10.1016/j.ajhg.2017.11.003. No abstract available.

11.

Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.

Lata S, Marasa M, Li Y, Fasel DA, Groopman E, Jobanputra V, Rasouly H, Mitrotti A, Westland R, Verbitsky M, Nestor J, Slater LM, D'Agati V, Zaniew M, Materna-Kiryluk A, Lugani F, Caridi G, Rampoldi L, Mattoo A, Newton CA, Rao MK, Radhakrishnan J, Ahn W, Canetta PA, Bomback AS, Appel GB, Antignac C, Markowitz GS, Garcia CK, Kiryluk K, Sanna-Cherchi S, Gharavi AG.

Ann Intern Med. 2018 Jan 16;168(2):100-109. doi: 10.7326/M17-1319. Epub 2017 Dec 5.

12.

Serum Response Factor Is Essential for Maintenance of Podocyte Structure and Function.

Guo B, Lyu Q, Slivano OJ, Dirkx R, Christie CK, Czyzyk J, Hezel AF, Gharavi AG, Small EM, Miano JM.

J Am Soc Nephrol. 2018 Feb;29(2):416-422. doi: 10.1681/ASN.2017050473. Epub 2017 Nov 7.

PMID:
29114040
13.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

Sanna-Cherchi S, Khan K, Westland R, Krithivasan P, Fievet L, Rasouly HM, Ionita-Laza I, Capone VP, Fasel DA, Kiryluk K, Kamalakaran S, Bodria M, Otto EA, Sampson MG, Gillies CE, Vega-Warner V, Vukojevic K, Pediaditakis I, Makar GS, Mitrotti A, Verbitsky M, Martino J, Liu Q, Na YJ, Goj V, Ardissino G, Gigante M, Gesualdo L, Janezcko M, Zaniew M, Mendelsohn CL, Shril S, Hildebrandt F, van Wijk JAE, Arapovic A, Saraga M, Allegri L, Izzi C, Scolari F, Tasic V, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Mane S, Goldstein DB, Lifton RP, Katsanis N, Davis EE, Gharavi AG.

Am J Hum Genet. 2017 Nov 2;101(5):789-802. doi: 10.1016/j.ajhg.2017.09.018. Erratum in: Am J Hum Genet. 2017 Dec 7;101(6):1034.

14.

Towards precision nephrology: the opportunities and challenges of genomic medicine.

Nestor JG, Groopman EE, Gharavi AG.

J Nephrol. 2018 Feb;31(1):47-60. doi: 10.1007/s40620-017-0448-0. Epub 2017 Oct 17. Review.

PMID:
29043570
15.

A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.

Vivante A, Mann N, Yonath H, Weiss AC, Getwan M, Kaminski MM, Bohnenpoll T, Teyssier C, Chen J, Shril S, van der Ven AT, Ityel H, Schmidt JM, Widmeier E, Bauer SB, Sanna-Cherchi S, Gharavi AG, Lu W, Magen D, Shukrun R, Lifton RP, Tasic V, Stanescu HC, Cavaillès V, Kleta R, Anikster Y, Dekel B, Kispert A, Lienkamp SS, Hildebrandt F.

J Am Soc Nephrol. 2017 Aug;28(8):2364-2376. doi: 10.1681/ASN.2016060694. Epub 2017 Apr 5.

16.

Genomic Disorders and Neurocognitive Impairment in Pediatric CKD.

Verbitsky M, Kogon AJ, Matheson M, Hooper SR, Wong CS, Warady BA, Furth SL, Gharavi AG.

J Am Soc Nephrol. 2017 Aug;28(8):2303-2309. doi: 10.1681/ASN.2016101108. Epub 2017 Mar 27.

17.

GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway.

Kiryluk K, Li Y, Moldoveanu Z, Suzuki H, Reily C, Hou P, Xie J, Mladkova N, Prakash S, Fischman C, Shapiro S, LeDesma RA, Bradbury D, Ionita-Laza I, Eitner F, Rauen T, Maillard N, Berthoux F, Floege J, Chen N, Zhang H, Scolari F, Wyatt RJ, Julian BA, Gharavi AG, Novak J.

PLoS Genet. 2017 Feb 10;13(2):e1006609. doi: 10.1371/journal.pgen.1006609. eCollection 2017 Feb.

18.

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S.

N Engl J Med. 2017 Feb 23;376(8):742-754. doi: 10.1056/NEJMoa1609009. Epub 2017 Jan 25.

19.

Somatic Mutations Modulate Autoantibodies against Galactose-Deficient IgA1 in IgA Nephropathy.

Huang ZQ, Raska M, Stewart TJ, Reily C, King RG, Crossman DK, Crowley MR, Hargett A, Zhang Z, Suzuki H, Hall S, Wyatt RJ, Julian BA, Renfrow MB, Gharavi AG, Novak J.

J Am Soc Nephrol. 2016 Nov;27(11):3278-3284. Epub 2016 Mar 10.

20.

Refinement of the HIVAN1 Susceptibility Locus on Chr. 3A1-A3 via Generation of Sub-Congenic Strains.

Papeta N, Patel A, D'Agati VD, Gharavi AG.

PLoS One. 2016 Oct 13;11(10):e0163860. doi: 10.1371/journal.pone.0163860. eCollection 2016.

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