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Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
Pankratz N, Wei P, Brody JA, Chen MH, de Vries PS, Huffman JE, Stimson MR, Auer PL, Boerwinkle E, Cushman M, de Maat MPM, Folsom AR, Franco OH, Gibbs RA, Haagenson KK, Hofman A, Johnsen JM, Kovar CL, Kraaij R, McKnight B, Metcalf GA, Muzny D, Psaty BM, Tang W, Uitterlinden AG, van Rooij JGJ, Dehghan A, O'Donnell CJ, Reiner AP, Morrison AC, Smith NL. Pankratz N, et al. Among authors: stimson mr. Hum Mol Genet. 2022 Sep 10;31(18):3120-3132. doi: 10.1093/hmg/ddac100. Hum Mol Genet. 2022. PMID: 35552711 Free PMC article.
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment.
Nagtegaal AP, Broer L, Zilhao NR, Jakobsdottir J, Bishop CE, Brumat M, Christiansen MW, Cocca M, Gao Y, Heard-Costa NL, Evans DS, Pankratz N, Pratt SR, Price TR, Spankovich C, Stimson MR, Valle K, Vuckovic D, Wells H, Eiriksdottir G, Fransen E, Ikram MA, Li CM, Longstreth WT Jr, Steves C, Van Camp G, Correa A, Cruickshanks KJ, Gasparini P, Girotto G, Kaplan RC, Nalls M, Schweinfurth JM, Seshadri S, Sotoodehnia N, Tranah GJ, Uitterlinden AG, Wilson JG, Gudnason V, Hoffman HJ, Williams FMK, Goedegebure A. Nagtegaal AP, et al. Among authors: stimson mr. Sci Rep. 2019 Oct 23;9(1):15192. doi: 10.1038/s41598-019-51630-x. Sci Rep. 2019. PMID: 31645637 Free PMC article.