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

Phenotype and Clinical Outcomes of Titin Cardiomyopathy

بواسطة Tayal U., Newsome S., Buchan R., Whiffin N., Halliday B., Lota A., Roberts A., Baksi A.J., Voges I., Midwinter W., Wilk A., Govind R., Walsh R., Daubeney P., Jarman J.W.E., Baruah R., Frenneaux M., Barton P.J., Pennell D., Ware J.S., Prasad S.K., Cook S.A.
منشور في 2019

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

بواسطة Wang, X., McCoy, P.A., Rodriguiz, R.M., Pan, Y., Je, H.S., Roberts, A.C., Kim, C.J., Berrios, J., Colvin, J.S., Bousquet-Moore, D., Lorenzo, I., Wu, G., Weinberg, R.J., Ehlers, M.D., Philpot, B.D., Beaudet, A.L., Wetsel, W.C., Jiang, Y.-H.
منشور في 2016

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

Fungal planet description sheets: 558-624

بواسطة Crous P., Wingfield M., Burgess T., St. J. Hardy G., Barber P., Alvarado P., Barnes C., Buchanan P., Heykoop M., Moreno G., Thangavel R., Van Der Spuy S., Barili A., Barrett S., Cacciola S., Cano-Lira J., Crane C., Decock C., Gibertoni T., Guarro J., Guevara-Suarez M., Hubka V., Kolařík M., Lira C., Ordoñez M., Padamsee M., Ryvarden L., Soares A., Stchigel A., Sutton D., Vizzini A., Weir B., Acharya K., Aloi F., Baseia I., Blanchette R., Bordallo J., Bratek Z., Butler T., Cano-Canals J., Carlavilla J., Chander J., Cheewangkoon R., Cruz R., Da Silva M., Dutta A., Ercole E., Escobio V., Esteve-Raventós F., Flores J., Gené J., Góis J., Haines L., Held B., Horta Jung M., Hosaka K., Jung T., Jurjević, Kautman V., Kautmanova I., Kiyashko A., Kozanek M., Kubátová A., Lafourcade M., La Spada F., Latha K., Madrid H., Malysheva E., Manimohan P., Manjón J., Martín M., Mata M., Merényi Z., Morte A., Nagy I., Normand A., Paloi S., Pattison N., Pawłowska J., Pereira O., Petterson M., Picillo B., Raj K., Roberts A., Rodríguez A., Rodríguez-Campo F., Romański M., Ruszkiewicz-Michalska M., Scanu B., Schena L., Semelbauer M., Sharma R., Shouche Y., Silva V., Staniaszek-Kik M., Stielow J.
منشور في 2017

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

The genome sequence of taurine cattle: A window to ruminant biology and evolution

بواسطة Elsik, C.G., Worley, K.C., Gibbs, R.A., Muzny, D.M., Weinstock, G.M., Chacko, J., Chandrabose, M.M., Cree, A., Dao, M.D., Dinh, H.H., Gabisi, R.A., Hines, S., Hume, J., Jhangiani, S.N., Joshi, V., Kovar, C.L., Lewis, L.R., Liu, Y.-S., Lopez, J., Morgan, M.B., Nguyen, N.B., Okwuonu, G.O., Ruiz, S.J., Santibanez, J., Wright, R.A., Buhay, C., Ding, Y., Dugan-Rocha, S., Herdandez, J., Holder, M., Sabo, A., Egan, A., Goodell, J., Wilczek-Boney, K., Fowler, G.R., Hitchens, M.E., Lozado, R.J., Moen, C., Steffen, D., Warren, J.T., Zhang, J., Durbin, K.J., Havlak, P., Jiang, H., Liu, Y., Qin, X., Ren, Y.Song, H., Bell, S.N., Davis, C., Johnson, A.J., Lee, S., Nazareth, L.V., Patel, B.M., Pu, L.-L., Vattathil, S., Williams, Jr. R.L., Curry, S., Hamilton, C., Sodergren, E., Wheeler, D.A., Reese, J.T., Childers, C.P., Bennett, A.K., Hagen, D.E., Bahadue, S.M., Donohue, K.E., Jamis, C., Khalil, S.S., Lee, J.C.-M., Poslusny, N., Rosenwald, A., Shen, L., Urbanski, J.M., Anzola, J.M., Dickens, C.M., Salih, H., Gill, C.A., Abbey, C.A., Boldt, C.R., Chapin, J.E., Choi, J., Gladney, C.J., Muntean, C.T., Romero, N.E., Welsh, Jr. T.H., Wunderlich, K.R., Tellam, R.L., Dalrymple, B., Barris, W., McWilliam, S., Ratnakumar, A., Ingham, A., Sando, L., Lutzow, Y.S., Waardenberg, A.J., Adelson, D.L., Eichler, E.E., Chen, L., Cheng, Z., Elnitski, L., Yang, M.Q., Guigo, R., Alioto, T., Chappie, C.E., Camara, F., Hamernik, D.L., Kappes, S.M., Lewin, H.A., Schook, L., Donthu, R., Larkin, D.M., Biase, F.H., Kumar, C.G., Rodriguez-Zas, S.L., Lynn, D.J., Brinkman, F.S.L., Whiteside, M.D., Nicholas, F.W., Reymond, A., Chrast, J., Henrichsen, C.N., Rijnkels, M., Hadsell, D.L., Skow, L.C., Brinkmeyer-Larigford, C.L., Fritz, K., Nandakumar, H.P., Zdobnov, E.M., Antonarakis, S.E., Ucla, C., Wyss, C., Gerlach, D., Junier, T., Womack, J., Astashyn, A., Chen, H.-C., Ermolaeva, O., Hlavina, W., Kapustin, Y., Kiryutin, B., Kitts, P., Landrum, M., Maglott, D., Pruitt, K., Sapojnikov, V., Souvorov, A., Kokocinski, F., Searle, S.M., Gilbert, J.G.R., Harrow, J.L., Hart, E.A., Wilming, L.G., Solovyev, V., Elhaik, E., Graur, D., Edgar, R.C., McEwan, J.C., Payne, G.M., Raison, J.M., Kriventseva, E.V., Eyras, E., Plass, M., Reecy, J., Spurlock, D., Cheng, Y., Hu, Z.-L., Rachagani, S., Chitko-McKown, C.G., Bennett, G.L., Harhay, G.P., Keele, J.W., Smith, T., Snelling, W.M., Stone, R.T., Liu, G.E., Matukumalli, L.K., Sonstegard, T.S., Van, Tassell C.P., Song, J., Zhu, B., Bradley, D.G., Lau, L.P.L., Walker, A., Wheeler, T.T., Molenaar, A.J., Casey, T., Halgren, R., German, J.B., Lemay, D.G., Martin, W.F., Maqbool, N.J., Seo, S., Stothard, P., Guan, L., Moore, S.S., Taniguchi, M., Grant, J.R., Kolbehdari, D., Marques, E., Sherman, L., Wang, Z., Baldwin, C.L., Herzig, C.T.A., Baxter, R., Glass, E.J., Jann, O., Hastings, N., Jensen, K., Leach, R., Brown, W.C., Lahmers, K.K., Kerr, T., White, S.N., Connelley, T., Ellis, S.A., Livanainen, A., Iivanainen, A., Aerts, J., Caetano, A.R., DeCampos, T.A., De, Miranda Santos I.K.F., Martins, N.F., Garcia, J.F., Almeida, L.G., Cervelatti, E.P., Moreno, B.T., Pastor, R.C.P., Utsunomiya, Y.T., Riggs, P.K., Hiendleder, S.G., Fitzsimmons, C.J., Memili, E., Williams, J.L., Genini, S., Kapetis, D., Malinverni, R., Panzitta, F., Alexander, L., Roberts, A., Waterman, R.C., MacNeil, M.D., Brownstein, M.J., Holt, R.A., Jones, S.J.M., Marra, M.A., Moore, R., Chiu, R., Schein, J.E., Shen, Y., Eggen, A., Green, R.D., Hobbs, M., Tammen, I., Kent, M.P., Lien, S., McKay, S.D., Schnabel, R.D., Taylor, J.F., Green, J.A., Telugu, B.P.V.L., Sugimoto, Y., Takasuga, A., Abatepaulo, A.R.R., Anatriello, E., Carvalho, W.A., De, Oliveira C.J.F., Franzin, A.M., Garcia, G.R., Maruyama, S.R., More, D.D., Ahola, V., Iso-Touru, T., Amadio, A.F., Carroll, J.A., Chacko, E., Ranganathan, S., Colley, A.J., Pant, S.D., Verschoor, C.P., De, Donato M., Deobald, H., McLean, K.L., Schmutz, S.M., Devinoy, E., Dove, P., Razpet, A., Eberlein, A., WeiKard, R., Greaser, M.L., Hakimov, H.A., Hernandez, M., Khatib, H., Kumar, D., Li, C., Logan, K.M., Mazza, R., Medrano, J.F., Rincon, G., Nogueira, M.F.G., Olsaker, I., Poli, M.A., Rodriguez-Osorio, N., Southey, B.R., Sweedler, J.V., Ward, R., Yang, J., Zhao, F.-Q.
منشور في 2011