References

Alaamery, M., Alghamdi, J., Massadeh, S., Alsawaji, M., Aljawini, N., Albesher, N., Alghamdi, B., Almutairi, M., Hejaili, F., Alfadhel, M., Baz, B., Almuzzaini, B., Almutairi, A. F., Abdullah, M., Quintana, F. J., & Sayyari, A. (2022). Analysis of chronic kidney disease patients by targeted next-generation sequencing identifies novel variants in kidney-related genes. Frontiers in Genetics, 13, 886038. https://doi.org/10.3389/fgene.2022.886038

Al-Hamed, M. H., Kurdi, W., Alsahan, N., Alabdullah, Z., Abudraz, R., Tulbah, M., Alnemer, M., Khan, R., Al-Jurayb, H., Alahmed, A., Tahir, A. I., Khalil, D., Edwards, N., Al Abdulaziz, B., Binhumaid, F. S., Majid, S., Faquih, T., El-Kalioby, M., Abouelhoda, M., … Albaqumi, M. (2016). Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel. Journal of Medical Genetics, 53(5), 338–347. https://doi.org/10.1136/jmedgenet-2015-103469

Bleyer, A. J., Westemeyer, M., Xie, J., Bloom, M. S., Brossart, K., Eckel, J. J., Jones, F., Molnar, M. Z., Kotzker, W., Anand, P., Kmoch, S., Xue, Y., Strom, S., Punj, S., Demko, Z. P., Tabriziani, H., Billings, P. R., & McKanna, T. (2022). Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel. American Journal of Nephrology, 53(4), 297–306. https://doi.org/10.1159/000522226

Boulogne, F., Claus, L. R., Wiersma, H., Oelen, R., Schukking, F., Klein, N. de, Li, S., Westra, H.-J., Zwaag, B. van der, Reekum, F. van, Genomics England Research Consortium, Sierks, D., Schönauer, R., Li, Z., Bijlsma, E. K., Bos, W. J. W., Halbritter, J., Knoers, N. V. A. M., Besse, W., … Eerde, A. M. van. (2023). KidneyNetwork: Using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease. European Journal of Human Genetics: EJHG. https://doi.org/10.1038/s41431-023-01296-x

Bullich, G., Domingo-Gallego, A., Vargas, I., Ruiz, P., Lorente-Grandoso, L., Furlano, M., Fraga, G., Madrid, Á., Ariceta, G., Borregán, M., Piñero-Fernández, J. A., Rodríguez-Peña, L., Ballesta-Martínez, M. J., Llano-Rivas, I., Meñica, M. A., Ballarín, J., Torrents, D., Torra, R., & Ars, E. (2018). A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases. Kidney International, 94(2), 363–371. https://doi.org/10.1016/j.kint.2018.02.027

Claus, L. R., Snoek, R., Knoers, N. V. A. M., & Eerde, A. M. van. (2022). Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 190(3), 358–376. https://doi.org/10.1002/ajmg.c.31995

Cormican, S., Connaughton, D. M., Kennedy, C., Murray, S., Živná, M., Kmoch, S., Fennelly, N. K., O’Kelly, P., Benson, K. A., Conlon, E. T., Cavalleri, G., Foley, C., Doyle, B., Dorman, A., Little, M. A., Lavin, P., Kidd, K., Bleyer, A. J., & Conlon, P. J. (2019). Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland. Renal Failure, 41(1), 832–841. https://doi.org/10.1080/0886022X.2019.1655452

Devarajan, P., Chertow, G. M., Susztak, K., Levin, A., Agarwal, R., Stenvinkel, P., Chapman, A. B., & Warady, B. A. (2022). Emerging Role of Clinical Genetics in CKD. Kidney Medicine, 4(4), 100435. https://doi.org/10.1016/j.xkme.2022.100435

Domingo-Gallego, A., Pybus, M., Bullich, G., Furlano, M., Ejarque-Vila, L., Lorente-Grandoso, L., Ruiz, P., Fraga, G., López González, M., Piñero-Fernández, J. A., Rodríguez-Peña, L., Llano-Rivas, I., Sáez, R., Bujons-Tur, A., Ariceta, G., Guirado, L., Torra, R., & Ars, E. (2022). Clinical utility of genetic testing in early-onset kidney disease: Seven genes are the main players. Nephrology, Dialysis, Transplantation: Official Publication of the European Dialysis and Transplant Association - European Renal Association, 37(4), 687–696. https://doi.org/10.1093/ndt/gfab019

Elhassan, E. A. E., Murray, S. L., Connaughton, D. M., Kennedy, C., Cormican, S., Cowhig, C., Stapleton, C., Little, M. A., Kidd, K., Bleyer, A. J., Živná, M., Kmoch, S., Fennelly, N. K., Doyle, B., Dorman, A., Griffin, M. D., Casserly, L., Harris, P. C., Hildebrandt, F., … Conlon, P. J. (2022). The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: Experience of the Irish Kidney Gene Project. Journal of Nephrology, 35(6), 1655–1665. https://doi.org/10.1007/s40620-021-01236-2

Jordan, P., Dorval, G., Arrondel, C., Morinière, V., Tournant, C., Audrezet, M.-P., Michel-Calemard, L., Putoux, A., Lesca, G., Labalme, A., Whalen, S., Loeuillet, L., Martinovic, J., Attie-Bitach, T., Bessières, B., Schaefer, E., Scheidecker, S., Lambert, L., Beneteau, C., … Heidet, L. (2022). Targeted next-generation sequencing in a large series of fetuses with severe renal diseases. Human Mutation, 43(3), 347–361. https://doi.org/10.1002/humu.24324

KDIGO Conference Participants. (2022). Genetics in chronic kidney disease: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney International, 101(6), 1126–1141. https://doi.org/10.1016/j.kint.2022.03.019

Knoers, N., Antignac, C., Bergmann, C., Dahan, K., Giglio, S., Heidet, L., Lipska-Ziętkiewicz, B. S., Noris, M., Remuzzi, G., Vargas-Poussou, R., & Schaefer, F. (2022). Genetic testing in the diagnosis of chronic kidney disease: Recommendations for clinical practice. Nephrology, Dialysis, Transplantation: Official Publication of the European Dialysis and Transplant Association - European Renal Association, 37(2), 239–254. https://doi.org/10.1093/ndt/gfab218

Köhler, S., Gargano, M., Matentzoglu, N., Carmody, L. C., Lewis-Smith, D., Vasilevsky, N. A., Danis, D., Balagura, G., Baynam, G., Brower, A. M., Callahan, T. J., Chute, C. G., Est, J. L., Galer, P. D., Ganesan, S., Griese, M., Haimel, M., Pazmandi, J., Hanauer, M., … Robinson, P. N. (2021). The Human Phenotype Ontology in 2021. Nucleic Acids Research, 49(D1), D1207–D1217. https://doi.org/10.1093/nar/gkaa1043

Martin, A. R., Williams, E., Foulger, R. E., Leigh, S., Daugherty, L. C., Niblock, O., Leong, I. U. S., Smith, K. R., Gerasimenko, O., Haraldsdottir, E., Thomas, E., Scott, R. H., Baple, E., Tucci, A., Brittain, H., De Burca, A., Ibañez, K., Kasperaviciute, D., Smedley, D., … McDonagh, E. M. (2019). PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nature Genetics, 51(11), 1560–1565. https://doi.org/10.1038/s41588-019-0528-2

Murray, S. L., Dorman, A., Benson, K. A., Connaughton, D. M., Stapleton, C. P., Fennelly, N. K., Kennedy, C., McDonnell, C. A., Kidd, K., Cormican, S. M., Ryan, L. A., Lavin, P., Little, M. A., Bleyer, A. J., Doyle, B., Cavalleri, G. L., Hildebrandt, F., & Conlon, P. J. (2020). Utility of Genomic Testing after Renal Biopsy. American Journal of Nephrology, 51(1), 43–53. https://doi.org/10.1159/000504869

Ottlewski, I., Münch, J., Wagner, T., Schönauer, R., Bachmann, A., Weimann, A., Hentschel, J., Lindner, T. H., Seehofer, D., Bergmann, C., Jamra, R. A., & Halbritter, J. (2019). Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease. Kidney International, 96(1), 222–230. https://doi.org/10.1016/j.kint.2019.01.038

Rasouly, H. M., Groopman, E. E., Heyman-Kantor, R., Fasel, D. A., Mitrotti, A., Westland, R., Bier, L., Weng, C., Ren, Z., Copeland, B., Krithivasan, P., Chung, W. K., Sanna-Cherchi, S., Goldstein, D. B., & Gharavi, A. G. (2019). The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing. Annals of Internal Medicine, 170(1), 11–21. https://doi.org/10.7326/M18-1241

Tanudisastro, H. A., Holman, K., Ho, G., Farnsworth, E., Fisk, K., Gayagay, T., Hackett, E., Jenkins, G., Krishnaraj, R., Lai, T., Wong, K., Patel, C., Mallawaarachchi, A., Mallett, A. J., Bennetts, B., Alexander, S. I., & McCarthy, H. J. (2021). Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families. NPJ Genomic Medicine, 6(1), 20. https://doi.org/10.1038/s41525-021-00184-x

Wei, C.-H., Kao, H.-Y., & Lu, Z. (2013). PubTator: A web-based text mining tool for assisting biocuration. Nucleic Acids Research, 41(W1), W518–W522. https://doi.org/10.1093/nar/gkt441