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Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
Gibson J, Fieldhouse R, Chan MMY, Sadeghi-Alavijeh O, Burnett L, Izzi V, Persikov AV, Gale DP, Storey H, Savige J; Genomics England Research Consortium. Gibson J, et al. J Am Soc Nephrol. 2021 Sep;32(9):2273-2290. doi: 10.1681/ASN.2020071065. Epub 2021 Jun 18. J Am Soc Nephrol. 2021. PMID: 34400539 Free PMC article.
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Gibson JT, Huang M, Shenelli Croos Dabrera M, Shukla K, Rothe H, Hilbert P, Deltas C, Storey H, Lipska-Ziętkiewicz BS, Chan MMY, Sadeghi-Alavijeh O, Gale DP; Genomics England Research Consortium; Cerkauskaite A, Savige J. Gibson JT, et al. Sci Rep. 2022 Feb 17;12(1):2722. doi: 10.1038/s41598-022-06525-9. Sci Rep. 2022. PMID: 35177655 Free PMC article.
Digenic Alport Syndrome.
Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT. Savige J, et al. Among authors: gibson jt. Clin J Am Soc Nephrol. 2022 Nov;17(11):1697-1706. doi: 10.2215/CJN.03120322. Epub 2022 Jun 8. Clin J Am Soc Nephrol. 2022. PMID: 35675912 Free PMC article. Review.
Research gaps and priorities for quantitative microbial risk assessment (QMRA).
Hamilton KA, Ciol Harrison J, Mitchell J, Weir M, Verhougstraete M, Haas CN, Nejadhashemi AP, Libarkin J, Gim Aw T, Bibby K, Bivins A, Brown J, Dean K, Dunbar G, Eisenberg JNS, Emelko M, Gerrity D, Gurian PL, Hartnett E, Jahne M, Jones RM, Julian TR, Li H, Li Y, Gibson JM, Medema G, Meschke JS, Mraz A, Murphy H, Oryang D, Owusu-Ansah EDJ, Pasek E, Pradhan AK, Razzolini MTP, Ryan MO, Schoen M, Smeets PWMH, Soller J, Solo-Gabriele H, Williams C, Wilson AM, Zimmer-Faust A, Alja'fari J, Rose JB. Hamilton KA, et al. Among authors: gibson jm. Risk Anal. 2024 May 21. doi: 10.1111/risa.14318. Online ahead of print. Risk Anal. 2024. PMID: 38772724
3,676 results