Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome

by Liu, Yanshan, Banka, Siddharth, Huang, Yingzhi, Hardman-Smart, Jonathan, Pye, Derek, Torrelo, Antonio, Beaman, Glenda M., Kazanietz, Marcelo G., Baker, Martin J., Ferrazzano, Carlo, Shi, Chenfu, Orozco, Gisela, Eyre, Stephen, van Geel, Michel, Bygum, Anette, Fischer, Judith, Miedzybrodzka, Zosia, Abuzahra, Faris, Rübben, Albert, Cuvertino, Sara, Ellingford, Jamie M., Smith, Miriam J., Evans, D. Gareth, Weppner-Parren, Lizelotte J. M. T., van Steensel, Maurice A. M., Chaudhary, Iskander H., Mangham, D. Chas, Lear, John T., Paus, Ralf, Frank, Jorge, Newman, William G., Zhang, Xue
Published 2022

Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (Nature Communications, (2020), 11, 1, (2523), 10.1038/s41467...

by Whiffin, Nicola, Karczewski, Konrad J., Zhang, Xiaolei, Chothani, Sonia, Smith, Miriam J., Evans, D. Gareth, Roberts, Angharad M., Quaife, Nicholas M., Schafer, Sebastian, Rackham, Owen, Alföldi, J., O’Donnell-Luria, A.H., Francioli, Laurent C., Armean, Irina M., Banks, E., Bergelson, L., Cibulskis, K., Collins, R.L., Connolly, K.M., Covarrubias, M., Cummings, B., Daly, M.J., Donnelly, S., Farjoun, Y., Ferriera, S., Gabriel, S., Gauthier, L.D., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Laricchia, K.M., Llanwarne, C., Minikel, E.V., Munshi, R., Neale, B.M., Novod, S., Petrillo, N., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Samocha, K.E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G., Tibbetts, K., Tolonen, C., Vittal, C., Wade, G., Wang, A., Wang, Q., Watts, N.A., Weisburd, B., Aguilar Salinas, Carlos A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Barnard, J., Beaugerie, L., Benjamin, E.J., Boehnke, M., Bonnycastle, L.L., Bottinger, E.P., Bowden, D.W., Bown, M.J., Chambers, J.C., Chan, J.C., Chasman, D., Cho, J., Chung, M.K., Cohen, B., Correa, A., Dabelea, D., Daly, M.J., Darbar, D., Duggirala, R., Dupuis, J., Ellinor, P.T., Elosua, R., Erdmann, J., Esko, T., Färkkilä, M., Florez, J., Programs in Metabolism and Medical and Population Genetics, Broad Institute., Department of Medicine, Harvard Medical School, Boston, MA 02115, United States., Franke, A., Getz, G., Glaser, B., Glatt, S.J., Goldstein, D., Gonzalez, C., Groop, L., Haiman, C., Hanis, C., Harms, M., Hiltunen, M., Holi, M.M., Hultman, C.M., Kallela, M., Kaprio, J., Kathiresan, S., Kim, B.-J., Kim, Y.J., Kirov, G., Kooner, J., Koskinen, S., Krumholz, H.M., Kugathasan, S., Kwak, S.H., Laakso, M., Lehtimäki, T., Loos, R.J.F., Lubitz, S.A., Ma, R.C.W., Marrugat, J., Mattila, K.M., McCarroll, S., McCarthy, M.I., McGovern, D., McPherson, R., Meigs, J.B., Melander, O., Metspalu, A., Neale, B.M., Nilsson, P.M., O’Donovan, M.C., Ongur, D., Orozco, L., Owen, M.J., Palmer, C.N.A., Palotie, A., Park, K.S., Pato, C., Pulver, A.E., Rahman, N., Remes, A.M., Rioux, J.D., Ripatti, S., Roden, D.M., Saleheen, D., Salomaa, V., Samani, N.J., Scharf, J., Schunkert, H., Shoemaker, M.B., Sklar, P., Soininen, H., Sokol, H., Spector, T., Sullivan, P.F., Suvisaari, J., Tai, E. Shyong, Teo, Yik Ying, Tiinamaija, T., Tsuang, M., Turner, D., Tusie-Luna, T., Vartiainen, E., Watkins, H., Weersma, R.K., Wessman, M., Wilson, J.G., Xavier, R.J., Vawter, M.P., Cook, Stuart A., Barton, Paul J. R., MacArthur, Daniel G., Ware, James S.
Published 2022