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Integrated Functional Genomic Analysis Enables Annotation of Kidney Genome-Wide Association Study Loci.
Sieber KB, Batorsky A, Siebenthall K, Hudkins KL, Vierstra JD, Sullivan S, Sur A, McNulty M, Sandstrom R, Reynolds A, Bates D, Diegel M, Dunn D, Nelson J, Buckley M, Kaul R, Sampson MG, Himmelfarb J, Alpers CE, Waterworth D, Akilesh S. Sieber KB, et al. Among authors: sampson mg. J Am Soc Nephrol. 2019 Mar;30(3):421-441. doi: 10.1681/ASN.2018030309. Epub 2019 Feb 13. J Am Soc Nephrol. 2019. PMID: 30760496 Free PMC article.
Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.
Sampson MG, Robertson CC, Martini S, Mariani LH, Lemley KV, Gillies CE, Otto EA, Kopp JB, Randolph A, Vega-Warner V, Eichinger F, Nair V, Gipson DS, Cattran DC, Johnstone DB, O'Toole JF, Bagnasco SM, Song PX, Barisoni L, Troost JP, Kretzler M, Sedor JR; Nephrotic Syndrome Study Network. Sampson MG, et al. J Am Soc Nephrol. 2016 Mar;27(3):814-23. doi: 10.1681/ASN.2014111131. Epub 2015 Jul 6. J Am Soc Nephrol. 2016. PMID: 26150607 Free PMC article.
Transethnic, Genome-Wide Analysis Reveals Immune-Related Risk Alleles and Phenotypic Correlates in Pediatric Steroid-Sensitive Nephrotic Syndrome.
Debiec H, Dossier C, Letouzé E, Gillies CE, Vivarelli M, Putler RK, Ars E, Jacqz-Aigrain E, Elie V, Colucci M, Debette S, Amouyel P, Elalaoui SC, Sefiani A, Dubois V, Simon T, Kretzler M, Ballarin J, Emma F, Sampson MG, Deschênes G, Ronco P. Debiec H, et al. Among authors: sampson mg. J Am Soc Nephrol. 2018 Jul;29(7):2000-2013. doi: 10.1681/ASN.2017111185. Epub 2018 Jun 14. J Am Soc Nephrol. 2018. PMID: 29903748 Free PMC article.
An eQTL Landscape of Kidney Tissue in Human Nephrotic Syndrome.
Gillies CE, Putler R, Menon R, Otto E, Yasutake K, Nair V, Hoover P, Lieb D, Li S, Eddy S, Fermin D, McNulty MT; Nephrotic Syndrome Study Network (NEPTUNE); Hacohen N, Kiryluk K, Kretzler M, Wen X, Sampson MG. Gillies CE, et al. Among authors: sampson mg. Am J Hum Genet. 2018 Aug 2;103(2):232-244. doi: 10.1016/j.ajhg.2018.07.004. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057032 Free PMC article.
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.
Verbitsky M, Krithivasan P, Batourina E, Khan A, Graham SE, Marasà M, Kim H, Lim TY, Weng PL, Sánchez-Rodríguez E, Mitrotti A, Ahram DF, Zanoni F, Fasel DA, Westland R, Sampson MG, Zhang JY, Bodria M, Kil BH, Shril S, Gesualdo L, Torri F, Scolari F, Izzi C, van Wijk JAE, Saraga M, Santoro D, Conti G, Barton DE, Dobson MG, Puri P, Furth SL, Warady BA, Pisani I, Fiaccadori E, Allegri L, Degl'Innocenti ML, Piaggio G, Alam S, Gigante M, Zaza G, Esposito P, Lin F, Simões-E-Silva AC, Brodkiewicz A, Drozdz D, Zachwieja K, Miklaszewska M, Szczepanska M, Adamczyk P, Tkaczyk M, Tomczyk D, Sikora P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Lozanovski VJ, Gucev Z, Ionita-Laza I, Stanaway IB, Crosslin DR, Wong CS, Hildebrandt F, Barasch J, Kenny EE, Loos RJF, Levy B, Ghiggeri GM, Hakonarson H, Latos-Bieleńska A, Materna-Kiryluk A, Darlow JM, Tasic V, Willer C, Kiryluk K, Sanna-Cherchi S, Mendelsohn CL, Gharavi AG. Verbitsky M, et al. Among authors: sampson mg. J Am Soc Nephrol. 2021 Apr;32(4):805-820. doi: 10.1681/ASN.2020050681. Epub 2021 Feb 17. J Am Soc Nephrol. 2021. PMID: 33597122 Free PMC article.
A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS.
Lane BM, Murray S, Benson K, Bierzynska A, Chryst-Stangl M, Wang L, Wu G, Cavalleri G, Doyle B, Fennelly N, Dorman A, Conlon S, Vega-Warner V, Fermin D, Vijayan P, Qureshi MA, Shril S, Barua M, Hildebrandt F, Pollak M, Howell D, Sampson MG, Saleem M, Conlon PJ, Spurney R, Gbadegesin R. Lane BM, et al. Among authors: sampson mg. J Am Soc Nephrol. 2021 Jul;32(7):1682-1695. doi: 10.1681/ASN.2020081234. Epub 2021 Apr 16. J Am Soc Nephrol. 2021. PMID: 33863784 Free PMC article.
Mapping genomic regulation of kidney disease and traits through high-resolution and interpretable eQTLs.
Han SK, McNulty MT, Benway CJ, Wen P, Greenberg A, Onuchic-Whitford AC; Nephrotic Syndrome Study Network (NEPTUNE); Jang D, Flannick J, Burtt NP, Wilson PC, Humphreys BD, Wen X, Han Z, Lee D, Sampson MG. Han SK, et al. Among authors: sampson mg. Nat Commun. 2023 Apr 19;14(1):2229. doi: 10.1038/s41467-023-37691-7. Nat Commun. 2023. PMID: 37076491 Free PMC article.
The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.
Azukaitis K, Simkova E, Majid MA, Galiano M, Benz K, Amann K, Bockmeyer C, Gajjar R, Meyers KE, Cheong HI, Lange-Sperandio B, Jungraithmayr T, Frémeaux-Bacchi V, Bergmann C, Bereczki C, Miklaszewska M, Csuka D, Prohászka Z, Killen P, Gipson P, Sampson MG, Lemaire M, Schaefer F. Azukaitis K, et al. Among authors: sampson mg. J Am Soc Nephrol. 2017 Oct;28(10):3066-3075. doi: 10.1681/ASN.2017010031. Epub 2017 May 19. J Am Soc Nephrol. 2017. PMID: 28526779 Free PMC article.
107 results