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Journal Article
Scholz M, Horn K, Pott J, Wuttke M, Kühnapfel A, M Nasr K, Kirsten H, Li Y, Hoppmann A, Gorski M, et al. X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements. Nat Commun. 2024 ;15(1):586.
Pan Y, Sun X, Mi X, Huang Z, Hsu Y, Hixson JE, Munzy D, Metcalf G, Franceschini N, Tin A, et al. Whole-Exome Sequencing Study Identifies Four Novel Gene Loci Associated with Diabetic Kidney Disease. Hum Mol Genet. 2022 .
Lin BM, Grinde KE, Brody JA, Breeze CE, Raffield LM, Mychaleckyj JC, Thornton TA, Perry JA, Baier LJ, Fuentes Lde Las, et al. Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium. EBioMedicine. 2021 ;63:103157.
Benjamin EJ, Rice KM, Arking DE, Pfeufer A, van Noord C, Smith AV, Schnabel RB, Bis JC, Boerwinkle E, Sinner MF, et al. Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet. 2009 ;41(8):879-81.
Tin A, Marten J, Kuhns VLHalperin, Li Y, Wuttke M, Kirsten H, Sieber KB, Qiu C, Gorski M, Yu Z, et al. Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. Nat Genet. 2019 ;51(10):1459-1474.
Li M, Li Y, Weeks O, Mijatovic V, Teumer A, Huffman JE, Tromp G, Fuchsberger C, Gorski M, Lyytikäinen L-P, et al. SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function. J Am Soc Nephrol. 2016 .
Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAGagliano, Corvelo A, Gogarten SM, Kang HMin, et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 2021 ;590(7845):290-299.
Mahajan A, Wessel J, Willems SM, Zhao W, Robertson NR, Chu AY, Gan W, Kitajima H, Taliun D, N Rayner W, et al. Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. Nat Genet. 2018 ;50(4):559-571.
Köttgen A, Pattaro C, Böger CA, Fuchsberger C, Olden M, Glazer NL, Parsa A, Gao X, Yang Q, Smith AV, et al. New loci associated with kidney function and chronic kidney disease. Nat Genet. 2010 ;42(5):376-84.
Ganesh SK, Zakai NA, van Rooij FJA, Soranzo N, Smith AV, Nalls MA, Chen M-H, Köttgen A, Glazer NL, Dehghan A, et al. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet. 2009 ;41(11):1191-8.
Köttgen A, Glazer NL, Dehghan A, Hwang S-J, Katz R, Li M, Yang Q, Gudnason V, Launer LJ, Harris TB, et al. Multiple loci associated with indices of renal function and chronic kidney disease. Nat Genet. 2009 ;41(6):712-7.
Yang Q, Köttgen A, Dehghan A, Smith AV, Glazer NL, Chen M-H, Chasman DI, Aspelund T, Eiriksdottir G, Harris TB, et al. Multiple genetic loci influence serum urate levels and their relationship with gout and cardiovascular disease risk factors. Circ Cardiovasc Genet. 2010 ;3(6):523-30.
Suzuki K, Hatzikotoulas K, Southam L, Taylor HJ, Yin X, Lorenz KM, Mandla R, Huerta-Chagoya A, Rayner NW, Bocher O, et al. Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications. medRxiv. 2023 .
Mahajan A, Spracklen CN, Zhang W, C Y Ng M, Petty LE, Kitajima H, Yu GZ, Rüeger S, Speidel L, Kim YJin, et al. Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation. Nat Genet. 2022 ;54(5):560-572.
Gorski M, Jung B, Li Y, Matias-Garcia PR, Wuttke M, Coassin S, Thio CHL, Kleber ME, Winkler TW, Wanner V, et al. Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline. Kidney Int. 2020 .
O'Seaghdha CM, Wu H, Yang Q, Kapur K, Guessous I, Zuber AMercier, Köttgen A, Stoudmann C, Teumer A, Kutalik Z, et al. Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations. PLoS Genet. 2013 ;9(9):e1003796.
Schlosser P, Tin A, Matias-Garcia PR, Thio CHL, Joehanes R, Liu H, Weihs A, Yu Z, Hoppmann A, Grundner-Culemann F, et al. Meta-analyses identify DNA methylation associated with kidney function and damage. Nat Commun. 2021 ;12(1):7174.
Tin A, Li Y, Brody JA, Nutile T, Chu AY, Huffman JE, Yang Q, Chen M-H, Robinson-Cohen C, Mace A, et al. Large-scale whole-exome sequencing association studies identify rare functional variants influencing serum urate levels. Nat Commun. 2018 ;9(1):4228.
Arking DE, M Junttila J, Goyette P, Huertas-Vazquez A, Eijgelsheim M, Blom MT, Newton-Cheh C, Reinier K, Teodorescu C, Uy-Evanado A, et al. Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals. PLoS Genet. 2011 ;7(6):e1002158.
Pfeufer A, van Noord C, Marciante KD, Arking DE, Larson MG, Smith AVernon, Tarasov KV, Müller M, Sotoodehnia N, Sinner MF, et al. Genome-wide association study of PR interval. Nat Genet. 2010 ;42(2):153-9.
Levy D, Ehret GB, Rice K, Verwoert GC, Launer LJ, Dehghan A, Glazer NL, Morrison AC, Johnson AD, Aspelund T, et al. Genome-wide association study of blood pressure and hypertension. Nat Genet. 2009 ;41(6):677-87.
Tin A, Woodward OM, Kao WHL, Liu C-T, Lu X, Nalls MA, Shriner D, Semmo M, Akylbekova EL, Wyatt SB, et al. Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele. Hum Mol Genet. 2011 ;20(20):4056-68.
Meyer TE, Verwoert GC, Hwang S-J, Glazer NL, Smith AV, van Rooij FJA, Ehret GB, Boerwinkle E, Felix JF, Leak TS, et al. Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. PLoS Genet. 2010 ;6(8).
Pattaro C, Köttgen A, Teumer A, Garnaas M, Böger CA, Fuchsberger C, Olden M, Chen M-H, Tin A, Taliun D, et al. Genome-wide association and functional follow-up reveals new loci for kidney function. PLoS Genet. 2012 ;8(3):e1002584.
Köttgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, Pistis G, Ruggiero D, O'Seaghdha CM, Haller T, et al. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet. 2013 ;45(2):145-54.

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