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Identification of a dysfunctional exon-skipping splice variant in GLUT9/SLC2A9 causal for renal hypouricemia type 2.
Toyoda Y, Cho SK, Tasic V, Pavelcová K, Bohatá J, Suzuki H, David VA, Yoon J, Pallaiova A, Šaligová J, Nousome D, Cachau R, Winkler CA, Takada T, Stibůrková B. Toyoda Y, et al. Among authors: winkler ca. Front Genet. 2023 Jan 17;13:1048330. doi: 10.3389/fgene.2022.1048330. eCollection 2022. Front Genet. 2023. PMID: 36733941 Free PMC article.
CR1 variants contribute to FSGS susceptibility across multiple populations.
Skitchenko R, Modrusan Z, Loboda A, Kopp JB, Winkler CA, Sergushichev A, Gupta N, Stevens C, Daly MJ, Shaw A, Artomov M. Skitchenko R, et al. Among authors: winkler ca. medRxiv [Preprint]. 2023 Nov 20:2023.11.20.23298462. doi: 10.1101/2023.11.20.23298462. medRxiv. 2023. PMID: 38076851 Free PMC article. Preprint.
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Gupta Y, Friedman DJ, McNulty MT, Khan A, Lane B, Wang C, Ke J, Jin G, Wooden B, Knob AL, Lim TY, Appel GB, Huggins K, Liu L, Mitrotti A, Stangl MC, Bomback A, Westland R, Bodria M, Marasa M, Shang N, Cohen DJ, Crew RJ, Morello W, Canetta P, Radhakrishnan J, Martino J, Liu Q, Chung WK, Espinoza A, Luo Y, Wei WQ, Feng Q, Weng C, Fang Y, Kullo IJ, Naderian M, Limdi N, Irvin MR, Tiwari H, Mohan S, Rao M, Dube GK, Chaudhary NS, Gutiérrez OM, Judd SE, Cushman M, Lange LA, Lange EM, Bivona DL, Verbitsky M, Winkler CA, Kopp JB, Santoriello D, Batal I, Pinheiro SVB, Oliveira EA, Simoes E Silva AC, Pisani I, Fiaccadori E, Lin F, Gesualdo L, Amoroso A, Ghiggeri GM, D'Agati VD, Magistroni R, Kenny EE, Loos RJF, Montini G, Hildebrandt F, Paul DS, Petrovski S, Goldstein DB, Kretzler M, Gbadegesin R, Gharavi AG, Kiryluk K, Sampson MG, Pollak MR, Sanna-Cherchi S. Gupta Y, et al. Among authors: winkler ca. Nat Commun. 2023 Nov 30;14(1):7836. doi: 10.1038/s41467-023-43020-9. Nat Commun. 2023. PMID: 38036523 Free PMC article.
Joint Associations of Pregnancy Complications and Postpartum Maternal Renal Biomarkers With Severe Cardiovascular Morbidities: A US Racially and Ethnically Diverse Prospective Birth Cohort Study.
Hong X, Rosenberg AZ, Heymann J, Yoshida T, Waikar SS, Ilori TO, Wang G, Rebuck H, Pearson C, Wang MC, Winkler CA, Kopp JB, Wang X. Hong X, et al. Among authors: winkler ca. J Am Heart Assoc. 2023 Nov 10;12(22):e029311. doi: 10.1161/JAHA.122.029311. Online ahead of print. J Am Heart Assoc. 2023. PMID: 37947096 Free PMC article.
Author Correction: Africa-specific human genetic variation near CHD1L associates with HIV-1 load.
McLaren PJ, Porreca I, Iaconis G, Mok HP, Mukhopadhyay S, Karakoc E, Cristinelli S, Pomilla C, Bartha I, Thorball CW, Tough RH, Angelino P, Kiar CS, Carstensen T, Fatumo S, Porter T, Jarvis I, Skarnes WC, Bassett A, DeGorter MK, Sathya Moorthy MP, Tuff JF, Kim EY, Walter M, Simons LM, Bashirova A, Buchbinder S, Carrington M, Cossarizza A, De Luca A, Goedert JJ, Goldstein DB, Haas DW, Herbeck JT, Johnson EO, Kaleebu P, Kilembe W, Kirk GD, Kootstra NA, Kral AH, Lambotte O, Luo M, Mallal S, Martinez-Picado J, Meyer L, Miro JM, Moodley P, Motala AA, Mullins JI, Nam K, Obel N, Pirie F, Plummer FA, Poli G, Price MA, Rauch A, Theodorou I, Trkola A, Walker BD, Winkler CA, Zagury JF, Montgomery SB, Ciuffi A, Hultquist JF, Wolinsky SM, Dougan G, Lever AML, Gurdasani D, Groom H, Sandhu MS, Fellay J. McLaren PJ, et al. Among authors: winkler ca. Nature. 2023 Sep;621(7979):E42. doi: 10.1038/s41586-023-06591-7. Nature. 2023. PMID: 37670157 No abstract available.
Alpha globin gene copy number and incident ischemic stroke risk among Black Americans.
Ruhl AP, Jeffries N, Yang Y, Brooks SD, Naik RP, Pecker LH, Mott BT, Winkler CA, Armstrong ND, Zakai NA, Gutierrez OM, Judd SE, Howard VJ, Howard G, Irvin MR, Cushman M, Ackerman HC. Ruhl AP, et al. Among authors: winkler ca. Front Stroke. 2023;2:1192465. doi: 10.3389/fstro.2023.1192465. Epub 2023 Jun 15. Front Stroke. 2023. PMID: 37622047 Free PMC article.
238 results