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Page 1
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.
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.
Integrated clinical risk prediction of type 2 diabetes with a multifactorial polygenic risk score.
Ritchie SC, Taylor HJ, Liang Y, Manikpurage HD, Pennells L, Foguet C, Abraham G, Gibson JT, Jiang X, Liu Y, Xu Y, Kim LG, Mahajan A, McCarthy MI, Kaptoge S, Lambert SA, Wood A, Sim X, Collins FS, Denny JC, Danesh J, Butterworth AS, Di Angelantonio E, Inouye M. Ritchie SC, et al. Among authors: gibson jt. medRxiv [Preprint]. 2024 Sep 23:2024.08.22.24312440. doi: 10.1101/2024.08.22.24312440. medRxiv. 2024. PMID: 39228710 Free PMC article. Preprint.
The Polygenic Score Catalog: new functionality and tools to enable FAIR research.
Lambert SA, Wingfield B, Gibson JT, Gil L, Ramachandran S, Yvon F, Saverimuttu S, Tinsley E, Lewis E, Ritchie SC, Wu J, Canovas R, McMahon A, Harris LW, Parkinson H, Inouye M. Lambert SA, et al. Among authors: gibson jt. medRxiv [Preprint]. 2024 May 31:2024.05.29.24307783. doi: 10.1101/2024.05.29.24307783. medRxiv. 2024. PMID: 38853961 Free PMC article. Preprint.
80 results