Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies

by Mazzarotto, Francesco, Hawley, Megan H., Beltrami, Matteo, Beekman, Leander, De Marvao, Antonio, Mcgurk, Kathryn A., Statton, Ben, Boschi, Beatrice, Girolami, Francesca, Roberts, Angharad M., Lodder, Elisabeth M., Allouba, Mona, Romeih, Soha, Aguib, Yasmine, Baksi, A. John, Pantazis, Antonis, Prasad, Sanjay K., Cerbai, Elisabetta, Yacoub, Magdi H., O’Regan, D.P., Cook, Stuart A., Ware, James S., Funke, Birgit, Olivotto, Iacopo, Bezzina, Connie R., Barton, Paul J. R., Walsh, Roddy
Published 2022

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

by Zhang, Xiaolei, Walsh, Roddy, Whiffin, Nicola, Buchan, Rachel, Midwinter, William, Wilk, Alicja, Govind, Risha, Li, Nicholas, Ahmad, Mian, Mazzarotto, Francesco, Roberts, Angharad, Theotokis, Pantazis I., Mazaika, Erica, Allouba, Mona, de Marvao, Antonio, Pua, Chee Jian, Day, Sharlene M., Ashley, Euan, Colan, Steven D., Michels, Michelle, Pereira, Alexandre C., Jacoby, Daniel, Ho, Carolyn Y., Olivotto, Iacopo, Gunnarsson, Gunnar T., Jefferies, John L., Semsarian, Chris, Ingles, Jodie, O’Regan, D.P., Aguib, Yasmine, Yacoub, Magdi H., Cook, Stuart A., Barton, Paul J. R., Bottolo, Leonardo, Ware, James S.
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