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Long-telomeropathy is associated with tumor predisposition syndrome.
Allaire P, Mayer J, Moat L, Gabor R, Shay JW, He J, Zeng C, Bastarache L, Hebbring S. Allaire P, et al. Among authors: hebbring s. medRxiv [Preprint]. 2024 Nov 28:2024.11.26.24318007. doi: 10.1101/2024.11.26.24318007. medRxiv. 2024. PMID: 39649603 Free PMC article. Preprint.
Genome-wide association study of susceptibility to hospitalised respiratory infections.
Williams AT, Shrine N, Naghra-van Gijzel H, Betts JC, Chen J, Hessel EM, John C, Packer R, Reeve NF, Yeo AJ, Abner E, Åsvold BO, Auvinen J, Bartz TM, Bradford Y, Brumpton B, Campbell A, Cho MH, Chu S, Crosslin DR, Feng Q, Esko T, Gharib SA, Hayward C, Hebbring S, Hveem K, Järvelin MR, Jarvik GP, Landis SH, Larson EB, Liu J, Loos RJF, Luo Y, Moscati A, Mullerova H, Namjou B, Porteous DJ, Quint JK; Regeneron Genomics Center; Ritchie MD, Sliz E, Stanaway IB, Thomas L, Wilson JF, Hall IP, Wain LV, Michalovich D, Tobin MD. Williams AT, et al. Among authors: hebbring s. Wellcome Open Res. 2023 Nov 21;6:290. doi: 10.12688/wellcomeopenres.17230.2. eCollection 2021. Wellcome Open Res. 2023. PMID: 39220670 Free PMC article.
Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities.
Venner E, Patterson K, Kalra D, Wheeler MM, Chen YJ, Kalla SE, Yuan B, Karnes JH, Walker K, Smith JD, McGee S, Radhakrishnan A, Haddad A, Empey PE, Wang Q, Lichtenstein L, Toledo D, Jarvik G, Musick A, Gibbs RA; All of Us Research Program Investigators. Venner E, et al. Commun Biol. 2024 Jun 10;7(1):713. doi: 10.1038/s42003-024-06408-x. Commun Biol. 2024. PMID: 38858496 Free PMC article. No abstract available.
Genetic sex validation for sample tracking in next-generation sequencing clinical testing.
Hu J, Korchina V, Zouk H, Harden MV, Murdock D, Macbeth A, Harrison SM, Lennon N, Kovar C, Balasubramanian A, Zhang L, Chandanavelli G, Pasham D, Rowley R, Wiley K, Smith ME, Gordon A, Jarvik GP, Sleiman P, Kelly MA, Bland HT, Murugan M, Venner E, Boerwinkle E; eMERGE III consortium; Prows C, Mahanta L, Rehm HL, Gibbs RA, Muzny DM. Hu J, et al. BMC Res Notes. 2024 Mar 3;17(1):62. doi: 10.1186/s13104-024-06723-w. BMC Res Notes. 2024. PMID: 38433186 Free PMC article.
111 results