Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations

by Agolini, E., Bachmann, N., Bergmann, C., Boerries, M., Briem-Richter, A., Dahmer-Heath, M., Decker, E., Devane, J., Eisenberger, T., Epting, D., Friedrich, A., Genomics England Research Consortium, Grabhorn, E.F, Grünewald, I., Hirschfield, G., König, J., Konrad, M., Maggiore, G., Metzger, P., Mezina, A., Miles, C.G, Olinger, E.G, Ott, E., Pietrobattista, A., Powell, L., Renschler, G., Rice, S.J, Sayer, J.A, Schell, C., Schlevogt, B., Sobreira, N., Trivedi, P., Wilson, I.J, Wohler, E., Wood, K., Yilmaz, A.
Published 2022

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

by Adams, D.J, Arbe-Barnes, E.H, Arnedo-Pac, C., Bajel, A., Buchanan, D.D, Caravagna, G., Cheadle, J.P, Chegwidden, L., Chew, E., Christie, M., Chubb, D., Church, D., Clendenning, M., Cross, W., Curley, H., de Voer, R.M, Deltas, C., Dimovski, A.J, Dymerska, D., Flensburg, C., Fostira, F., Frangou, A., Galavotti, S., Genomics England Research Consortium, Georgiou, D., Goldberg, Y., Graham, T., Green, A., Grolleman, J.E, Gruber, A.J, Hoogerbrugge, N., Houlston, R., Jansen, E.A.M, Jenkins, M.A, Kinnersley, B., Koelzer, V.H, Kuiper, R.P, Lander, N., Ligtenberg, M.J.L, Lopez-Bigas, N., Lubinski, J., Mahmood, K., Majewski, I.J, Martin, L., Noyvert, B., Pagan, J., Palles, C., Ponte, C.R, Power, D.G, Rivas, A.D, Roberts, A.W, Sampson, J.R, Sanders, M., Sherwood, K., Sottoriva, A., Taylor, J.C, The CORGI Consortium, Thomas, H., Thomas, L.E, Tomlinson, I.P.M, Truscott, R., Turnbull, C., van der Biezen, S.A.M, van der Post, R.S, van Wezel, T., Vreede, L., Wedge, D., Weitz, J., West, H.D, WGS500 Consortium, Whalley, C., Winship, I.M
Published 2022