My Research

Developmental epigenomics

We aim to understand how cells use their genetic information throughout development, and how these regulatory mechanisms are affected in disease.

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Selected publications

Sadeghi-Alavijeh, O., Chan, M. M., Doctor, G. T., Voinescu, C. D., Stuckey, A., Kousathanas, A., Ho, A. T., Stanescu, H. C., Bockenhauer, D., Sandford, R. N., Levine, A. P., & Gale, D. P. (2024). Quantifying variant contributions in cystic kidney disease using national-scale whole genome sequencing. Journal of Clinical Investigation, 134(19). https://doi.org/10.1172/jci181467

Wong, K., Pitcher, D., Braddon, F., Downward, L., Steenkamp, R., Masoud, S., Annear, N., Barratt, J., Bingham, C., Coward, R. J., Chrysochou, T., Game, D., Griffin, S., Hall, M., Johnson, S., Kanigicherla, D., Frankl, F. K., Kavanagh, D., Kerecuk, L., . . . Wright, D. (2024). Description and cross-sectional analyses of 25,880 adults and children in the UK National Registry of Rare Kidney Diseases cohort. Kidney International Reports, 9(7), 2067–2083. https://doi.org/10.1016/j.ekir.2024.04.062

Chan, M. M. Y., & Gale, D. P. (2023). Using genomics to understand severe COVID-19. Nephrology Dialysis Transplantation, 39(5), 731–734. https://doi.org/10.1093/ndt/gfad262

Wong, K., Pitcher, D., Braddon, F., Downward, L., Steenkamp, R., Annear, N., Barratt, J., Bingham, C., Chrysochou, C., Coward, R. J., Game, D., Griffin, S., Hall, M., Johnson, S., Kanigicherla, D., Frankl, F. K., Kavanagh, D., Kerecuk, L., Maher, E. R., . . . Wright, D. (2024a). Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort. The Lancet. https://doi.org/10.1016/s0140-6736(23)02843-x

Sadeghi-Alavijeh, O., Chan, M. M., Moochhala, S. H., Howles, S., Gale, D. P., Böckenhauer, D., Ambrose, J. C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C. R., Brittain, H., Caulfield, M. J., Chan, G. C., Elgar, G., Fowler, T., Giess, A., Hamblin, A., . . . Wood, S. M. (2023). Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease. Kidney International, 104(5), 975–984. https://doi.org/10.1016/j.kint.2023.06.019

Downie, M. L., Gupta, S., Chan, M. M. Y., Sadeghi-Alavijeh, O., Cao, J., Parekh, R. S., Diz, C. B., Bierzynska, A., Levine, A. P., Pepper, R. J., Stanescu, H., Saleem, M. A., Kleta, R., Bockenhauer, D., Koziell, A. B., & Gale, D. P. (2022). Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome. Pediatric Nephrology, 38(6), 1793–1800. https://doi.org/10.1007/s00467-022-05789-7

Doctor, G. T., Gale, D. P., & Chan, M. M. (2023). Genomics in the kidney clinic. Clinical Medicine, 23(3), 246–249. https://doi.org/10.7861/clinmed.2023-rm2

Mingardo, E., Beaman, G., Grote, P., Nordenskjöld, A., Newman, W., Woolf, A. S., Eckstein, M., Hilger, A. C., Dworschak, G. C., Rösch, W., Ebert, A., Stein, R., Brusco, A., Di Grazia, M., Tamer, A., Torres, F. M., Hernandez, J. L., Erben, P., Maj, C., . . . Reutter, H. (2022). A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy. Communications Biology, 5(1). https://doi.org/10.1038/s42003-022-04092-3

Chan, M. M., Sadeghi-Alavijeh, O., Lopes, F. M., Hilger, A. C., Stanescu, H. C., Voinescu, C. D., Beaman, G. M., Newman, W. G., Zaniew, M., Weber, S., Ho, Y. M., Connolly, J. O., Wood, D., Maj, C., Stuckey, A., Kousathanas, A., Kleta, R., Woolf, A. S., Bockenhauer, D., . . . Gale, D. P. (2022). Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves. eLife, 11. https://doi.org/10.7554/elife.74777

Dixon, P. H., Levine, A. P., Cebola, I., Chan, M. M. Y., Amin, A. S., Aich, A., Mozere, M., Maude, H., Mitchell, A. L., Zhang, J., Adlard, J., Ahmed, M., Aitman, T., Alachkar, H., Allsup, D., Almeida-King, J., Ancliff, P., Antrobus, R., Armstrong, R., . . . Williamson, C. (2022). GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements. Nature Communications, 13(1). https://doi.org/10.1038/s41467-022-29931-z