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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: gharavi ag. 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.
IgA nephropathy--the case for a genetic basis becomes stronger.
Kiryluk K, Gharavi AG, Izzi C, Scolari F. Kiryluk K, et al. Among authors: gharavi ag. Nephrol Dial Transplant. 2010 Feb;25(2):336-8. doi: 10.1093/ndt/gfp593. Epub 2009 Nov 13. Nephrol Dial Transplant. 2010. PMID: 19914997 No abstract available.
Genetic studies of IgA nephropathy: past, present, and future.
Kiryluk K, Julian BA, Wyatt RJ, Scolari F, Zhang H, Novak J, Gharavi AG. Kiryluk K, et al. Among authors: gharavi ag. Pediatr Nephrol. 2010 Nov;25(11):2257-68. doi: 10.1007/s00467-010-1500-7. Epub 2010 Apr 13. Pediatr Nephrol. 2010. PMID: 20386929 Free PMC article. Review.
Geographic differences in genetic susceptibility to IgA nephropathy: GWAS replication study and geospatial risk analysis.
Kiryluk K, Li Y, Sanna-Cherchi S, Rohanizadegan M, Suzuki H, Eitner F, Snyder HJ, Choi M, Hou P, Scolari F, Izzi C, Gigante M, Gesualdo L, Savoldi S, Amoroso A, Cusi D, Zamboli P, Julian BA, Novak J, Wyatt RJ, Mucha K, Perola M, Kristiansson K, Viktorin A, Magnusson PK, Thorleifsson G, Thorsteinsdottir U, Stefansson K, Boland A, Metzger M, Thibaudin L, Wanner C, Jager KJ, Goto S, Maixnerova D, Karnib HH, Nagy J, Panzer U, Xie J, Chen N, Tesar V, Narita I, Berthoux F, Floege J, Stengel B, Zhang H, Lifton RP, Gharavi AG. Kiryluk K, et al. Among authors: gharavi ag. PLoS Genet. 2012;8(6):e1002765. doi: 10.1371/journal.pgen.1002765. Epub 2012 Jun 21. PLoS Genet. 2012. PMID: 22737082 Free PMC article.
Copy-number disorders are a common cause of congenital kidney malformations.
Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, Lozanovski VJ, Materna-Kiryluk A, Barlassina C, Kini A, Corbani V, Carrea A, Somenzi D, Murtas C, Ristoska-Bojkovska N, Izzi C, Bianco B, Zaniew M, Flogelova H, Weng PL, Kacak N, Giberti S, Gigante M, Arapovic A, Drnasin K, Caridi G, Curioni S, Allegri F, Ammenti A, Ferretti S, Goj V, Bernardo L, Jobanputra V, Chung WK, Lifton RP, Sanders S, State M, Clark LN, Saraga M, Padmanabhan S, Dominiczak AF, Foroud T, Gesualdo L, Gucev Z, Allegri L, Latos-Bielenska A, Cusi D, Scolari F, Tasic V, Hakonarson H, Ghiggeri GM, Gharavi AG. Sanna-Cherchi S, et al. Among authors: gharavi ag. Am J Hum Genet. 2012 Dec 7;91(6):987-97. doi: 10.1016/j.ajhg.2012.10.007. Epub 2012 Nov 15. Am J Hum Genet. 2012. PMID: 23159250 Free PMC article.
Genomic imbalances in pediatric patients with chronic kidney disease.
Verbitsky M, Sanna-Cherchi S, Fasel DA, Levy B, Kiryluk K, Wuttke M, Abraham AG, Kaskel F, Köttgen A, Warady BA, Furth SL, Wong CS, Gharavi AG. Verbitsky M, et al. Among authors: gharavi ag. J Clin Invest. 2015 May;125(5):2171-8. doi: 10.1172/JCI80877. Epub 2015 Apr 20. J Clin Invest. 2015. PMID: 25893603 Free PMC article.
184 results