Republished review: Next generation sequencing for clinical diagnostics and personalised medicine: Implications for the next generation cardiologist

بواسطة Ware J.S., Roberts A.M., Cook S.A.
منشور في 2018

Next generation sequencing for clinical diagnostics and personalised medicine: Implications for the next generation cardiologist

بواسطة Ware J.S., Roberts A.M., Cook S.A.
منشور في 2018

Next generation diagnostics in inherited arrhythmia syndromes: A comparison of two approaches

بواسطة Ware J.S., John S., Roberts A.M., Buchan R., Gong S., Peters N.S., Robinson D.O., Lucassen A., Behr E.R., Cook S.A.
منشور في 2018

Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young

بواسطة Fatkin D., Lam L., Herman D.S., Benson C.C., Felkin L.E., Barton P.J.R., Walsh R., Candan S., Ware J.S., Roberts A.M., Chung W.K., Smoot L., Bornaun H., Keogh A.M., Macdonald P.S., Hayward C.S., Seidman J.G., Roberts A.E., Cook S.A., Seidman C.E.
منشور في 2019

A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy

بواسطة Horvat C., Johnson R., Lam L., Munro J., Mazzarotto F., Roberts A.M., Herman D.S., Parfenov M., Haghighi A., McDonough B., DePalma S.R., Keogh A.M., Macdonald P.S., Hayward C.S., Roberts A., Barton P.J.R., Felkin L.E., Giannoulatou E., Cook S.A., Seidman J.G., Seidman C.E., Fatkin D.
منشور في 2018

VHL promotes E2 box-dependent E-cadherin transcription by HIF-mediated regulation of SIP1 and snail

بواسطة Evans, A.J, Russell, R.C, Roche, O, Burry, T.N, Fish, J.E, Chow, V.W.K, Kim, W.Y, Saravanan, A, Maynard, M.A, Gervais, M.L, Sufan, R.I, Roberts, A.M, Wilson, L.A, Betten, M, Vandewalle, C, Berx, G, Marsden, P.A, Irwin, M.S, Teh, B.T, Jewett, M.A.S, Ohh, M
منشور في 2020

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy

بواسطة Villard E., Perret C., Gary F., Proust C., Dilanian G., Hengstenberg C., Ruppert V., Arbustini E., Wichter T., Germain M., Dubourg O., Tavazzi L., Aumont M.-C., De Groote P., Fauchier L., Trochu J.-N., Gibelin P., Aupetit J.-F., Stark K., Erdmann J., Hetzer R., Roberts A.M., Barton P.J.R., Regitz-Zagrosek V., Consortium C., Aslam U., Duboscq-Bidot L., Meyborg M., Maisch B., Madeira H., Waldenström A., Galve E., Cleland J.G., Dorent R., Roizes G., Zeller T., Blankenberg S., Goodall A.H., Cook S., Tregouet D.A., Tiret L., Isnard R., Komajda M., Charron P., Cambien F.
منشور في 2018

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

بواسطة Roberts A.M., Ware J.S., Herman D.S., Schafer S., Baksi J., Bick A.G., Buchan R.J., Walsh R., John S., Wilkinson S., Mazzarotto F., Felkin L.E., Gong S., Macarthur J.A.L., Cunningham F., Flannick J., Gabriel S.B., Altshuler D.M., MacDonald P.S., Heinig M., Keogh A.M., Hayward C.S., Banner N.R., Pennell D.J., O'Regan D.P., San T.R., De Marvao A., Dawes T.J.W., Gulati A., Birks E.J., Yacoub M.H., Radke M., Gotthardt M., Wilson J.G., O'Donnell C.J., Prasad S.K., Barton P.J.R., Fatkin D., Hubner N., Seidman J.G., Seidman C.E., Cook S.A.
منشور في 2019

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

بواسطة Whiffin, N., Karczewski, K.J., Zhang, X., Chothani, S., Smith, M.J., Evans, D.G., Roberts, A.M., Quaife, N.M., Schafer, S., Rackham, O., Alföldi, J., Hultman, C.M., Wang, A., Wang, Q., Watts, N.A., Weisburd, B., Aguilar Salinas, C.A., Ahmad, T., Albert, C.M., Ardissino, D., Atzmon, G., Francioli, L.C., Barnard, J., Kallela, M., Beaugerie, L., Benjamin, E.J., Boehnke, M., Bonnycastle, L.L., Bottinger, E.P., Bowden, D.W., Bown, M.J., Chambers, J.C., McCarroll, S., Chan, J.C., Chasman, D., Kaprio, J., Cho, J., Chung, M.K., Cohen, B., Correa, A., Dabelea, D., Daly, M.J., Darbar, D., McCarthy, M.I., Duggirala, R., Dupuis, J., Ellinor, P.T., Kathiresan, S., Elosua, R., Erdmann, J., Esko, T., Färkkilä, M., Florez, J., Programs in Metabolism and Medical and Population Genetics, Broad Institute., McGovern, D., Department of Medicine, Harvard Medical School, Boston, MA 02115, United States., Franke, A., Getz, G., Glaser, B., Kim, B.-J., Glatt, S.J., Goldstein, D., Gonzalez, C., Groop, L., Haiman, C., McPherson, R., Hanis, C., Harms, M., Hiltunen, M., Kim, Y.J., Kirov, G., Kooner, J., Koskinen, S., O’Donnell-Luria, A.H., Krumholz, H.M., Kugathasan, S., Meigs, J.B., Kwak, S.H., Laakso, M., Lehtimäki, T., Loos, R.J.F., Lubitz, S.A., Ma, R.C.W., Marrugat, J., Mattila, K.M., Melander, O., Metspalu, A., Neale, B.M., Nilsson, P.M., Llanwarne, C., O’Donovan, M.C., Armean, I.M., Ongur, D., Orozco, L., Owen, M.J., Palmer, C.N.A., Palotie, A., Park, K.S., Pato, C., Pulver, A.E., Minikel, E.V., Rahman, N., Remes, A.M., Banks, E., Rioux, J.D., Ripatti, S., Roden, D.M., Saleheen, D., Salomaa, V., Samani, N.J., Scharf, J., Munshi, R., Schunkert, H., Shoemaker, M.B., Sklar, P., Bergelson, L., Soininen, H., Sokol, H., Spector, T., Sullivan, P.F., Suvisaari, J., Tai, E.S., Neale, B.M., Teo, Y.Y., Tiinamaija, T., Tsuang, M., Turner, D., Cibulskis, K., Tusie-Luna, T., Vartiainen, E., Watkins, H., Weersma, R.K., Wessman, M., Novod, S., Wilson, J.G., Xavier, R.J., Cook, S.A., Collins, R.L., Connolly, K.M., Covarrubias, M., Cummings, B., Daly, M.J., Donnelly, S., Farjoun, Y., Petrillo, N., Ferriera, S., Gabriel, S., Gauthier, L.D., Gentry, J., Gupta, N., Jeandet, T., Kaplan, D., Laricchia, K.M., Poterba, T., Roazen, D., Ruano-Rubio, V., Saltzman, A., Holi, M.M., Samocha, K.E., Schleicher, M., Seed, C., Solomonson, M., Soto, J., Tiao, G., Tibbetts, K., Tolonen, C., Vittal, C., Wade, G.
منشور في 2021