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1Academic Journal
المؤلفون: Sweeney, M., O’Fee, K., Villanueva-Hayes, C., Rahman, E., Lee, M., Tam, C.N., Pascual-Navarro, E., Maatz, H., Lindberg, E.L., Vanezis, K., Ramachandra, C.J., Andrew, Iv., Jennings, E.R., Lim, W.W., Widjaja, A.A., Carling, D., Hausenloy, D.J., Hubner, N., Barton, P.J.R., Cook, S.A.
مصطلحات موضوعية: Cardiovascular and Metabolic Diseases, Topic 1: Genes, Cells and Cell-Based Medicine
وصف الملف: application/pdf; other
Relation: https://edoc.mdc-berlin.de/id/eprint/24837/1/24837oa.pdf; https://edoc.mdc-berlin.de/id/eprint/24837/2/24837suppl.zip; Interleukin 11 therapy causes acute left ventricular dysfunction. Sweeney, M., O’Fee, K., Villanueva-Hayes, C., Rahman, E., Lee, M., Tam, C.N., Pascual-Navarro, E., Maatz, H., Lindberg, E.L., Vanezis, K., Ramachandra, C.J., Andrew, Iv., Jennings, E.R., Lim, W.W., Widjaja, A.A., Carling, D., Hausenloy, D.J., Hubner, N., Barton, P.J.R. and Cook, S.A. Cardiovascular Research : cvae224. 9 October 2024 (In Press); PMID:39383190; https://doi.org/10.1093/cvr/cvae224
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2Academic Journal
المؤلفون: Quaife, N.M., Chothani, S., Schulz, J.F., Lindberg, E.L., Vanezis, K., Adami, E., O'Fee, K., Greiner, J., Litviňuková, M., van Heesch, S., Whiffin, N., Hubner, N., Schafer, S., Rackham, O., Cook, S.A., Barton, P.J.R.
مصطلحات موضوعية: Cardiovascular and Metabolic Diseases, Topic 1: Genes, Cells and Cell-Based Medicine
وصف الملف: application/pdf; application/msword
Relation: http://edoc.mdc-berlin.de/21744/1/21744oa.pdf; http://edoc.mdc-berlin.de/21744/2/21744suppl.docx; LINC01013 is a determinant of fibroblast activation and encodes a novel fibroblast-activating micropeptide. Quaife, N.M. and Chothani, S. and Schulz, J.F. and Lindberg, E.L. and Vanezis, K. and Adami, E. and O'Fee, K. and Greiner, J. and Litviňuková, M. and van Heesch, S. and Whiffin, N. and Hubner, N. and Schafer, S. and Rackham, O. and Cook, S.A. and Barton, P.J.R. Journal of cardiovascular translational research 16 (1): 77-85. February 2023
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3Academic Journal
المؤلفون: Reichart, D., Lindberg, E.L., Maatz, H., Miranda, A.M.A., Viveiros, A., Shvetsov, N., Gärtner, A., Nadelmann, E.R., Lee, M., Kanemaru, K., Ruiz-Orera, J., Strohmenger, V., DeLaughter, D.M., Patone, G., Zhang, H., Woehler, A., Lippert, C., Kim, Y., Adami, E., Gorham, J.M., Barnett, S.N., Brown, K., Buchan, R.J., Chowdhury, R.A., Constantinou, C., Cranley, J., Felkin, L.E., Fox, H., Ghauri, A., Gummert, J., Kanda, M., Li, R., Mach, L., McDonough, B., Samari, S., Shahriaran, F., Yapp, C., Stanasiuk, C., Theotokis, P.I., Theis, F.J., van den Bogaerdt, A., Wakimoto, H., Ware, J.S., Worth, C.L., Barton, P.J.R., Lee, Y.A., Teichmann, S.A., Milting, H., Noseda, M., Oudit, G.Y., Heinig, M., Seidman, J.G., Hubner, N., Seidman, C.E.
المصدر: Science 377:eabo1984 (2022)
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/35926050; info:eu-repo/semantics/altIdentifier/wos/WOS:000837874700036; info:eu-repo/semantics/altIdentifier/isbn/0036-8075; info:eu-repo/semantics/al; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=65848; urn:isbn:0036-8075; urn:issn:0036-8075; urn:issn:1095-9203
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4Academic Journal
المؤلفون: Wright, C.F., Quaife, N.M., Ramos-Hernández, L., Danecek, P., Ferla, M.P., Samocha, K.E., Kaplanis, J., Gardner, E.J., Eberhardt, R.Y., Chao, K.R., Karczewski, K.J., Morales, J., Gallone, G., Balasubramanian, M., Banka, S., Gompertz, L., Kerr, B., Kirby, A., Lynch, S.A., Morton, J.E.V., Pinz, H., Sansbury, F.H., Stewart, H., Zuccarelli, B.D., Genomics England Research Consortium, Cook, S.A., Taylor, J.C., Juusola, J., Retterer, K., Firth, H.V., Hurles, M.E., Lara-Pezzi, E., Barton, P.J.R., Whiffin, N.
وصف الملف: text
Relation: https://eprints.whiterose.ac.uk/174965/3/MEF2Cmanuscript_AJHG_resub_March2021_clean_CW.pdf; Wright, C.F., Quaife, N.M., Ramos-Hernández, L. et al. (31 more authors) (2021) Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. American Journal of Human Genetics, 108 (6). pp. 1083-1094. ISSN 0002-9297
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5Academic Journal
المؤلفون: Walsh, R., Mazzarotto, F., Whiffin, N, Buchan, R., Midwinter, W., Wilk, A., Li, N, Felkin, L., Ingold, N., Govind, R., Ahmad, M. (Margaret), Mazaika, E., Allouba, M., Zhang, XL, de Marvao, A., Day, S. M., Ashley, E., Colan, S.D. (Steven), Michels, M. (Michelle), Pereira, AC, Jacoby, D., Ho, C.Y. (Carolyn), Thomson, K.L., Watkins, H. (Hugh), Barton, P.J.R., Olivotto, I, Cook, S.A. (S.), Ware, J.S.
المصدر: Genome Medicine vol. 11
مصطلحات موضوعية: Variant interpretation, Mendelian genetics, Hypertrophic cardiomyopathy, ACMG/AMP guidelines
وصف الملف: application/pdf
Relation: http://repub.eur.nl/pub/114921; urn:hdl:1765/114921
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6Academic Journal
المؤلفون: Chothani, S., Schäfer, S., Adami, E., Viswanathan, S., Widjaja, A.A., Langley, S.R., Tan, J., Wang, M., Quaife, N.M., Pua, C.J., D'Agostino, G., Shekeran, S.G., George, B.L., Lim, S., Cao, E.Y., van Heesch, S., Witte, F., Felkin, L.E., Christodoulou, E.G., Dong, J., Blachut, S., Patone, G., Barton, P.J.R., Hubner, N., Cook, S.A., Rackham, O.J.L.
مصطلحات موضوعية: Cardiovascular and Metabolic Diseases
وصف الملف: application/pdf
Relation: http://edoc.mdc-berlin.de/18325/13/18325oa.pdf; http://edoc.mdc-berlin.de/18325/7/18325suppl.pdf; Widespread translational control of fibrosis in the human heart by RNA-binding proteins. Chothani, S. and Schäfer, S. and Adami, E. and Viswanathan, S. and Widjaja, A.A. and Langley, S.R. and Tan, J. and Wang, M. and Quaife, N.M. and Pua, C.J. and D'Agostino, G. and Shekeran, S.G. and George, B.L. and Lim, S. and Cao, E.Y. and van Heesch, S. and Witte, F. and Felkin, L.E. and Christodoulou, E.G. and Dong, J. and Blachut, S. and Patone, G. and Barton, P.J.R. and Hubner, N. and Cook, S.A. and Rackham, O.J.L. Circulation 140 (11): 937-951. 10 September 2019
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7Academic Journal
المؤلفون: Chen, H., Moreno-Moral, A., Pesce, F., Devapragash, N., Mancini, M., Heng, E.L., Rotival, M., Srivastava, P.K., Harmston, N., Shkura, K., Rackham, O.J.L., Yu, W.P., Sun, X.M., Tee, N.G.Z., Tan, E.L.S., Barton, P.J.R., Felkin, L.E., Lara-Pezzi, E., Angelini, G., Beltrami, C., Pravenec, M., Schafer, A., Bottolo, L., Hubner, N., Emanueli, C., Cook, S.A., Petretto, E.
مصطلحات موضوعية: Cardiovascular and Metabolic Diseases
وصف الملف: application/pdf; other
Relation: http://edoc.mdc-berlin.de/18371/1/18371oa.pdf; http://edoc.mdc-berlin.de/18371/7/18371suppl.zip; WWP2 regulates pathological cardiac fibrosis by modulating SMAD2 signaling. Chen, H. and Moreno-Moral, A. and Pesce, F. and Devapragash, N. and Mancini, M. and Heng, E.L. and Rotival, M. and Srivastava, P.K. and Harmston, N. and Shkura, K. and Rackham, O.J.L. and Yu, W.P. and Sun, X.M. and Tee, N.G.Z. and Tan, E.L.S. and Barton, P.J.R. and Felkin, L.E. and Lara-Pezzi, E. and Angelini, G. and Beltrami, C. and Pravenec, M. and Schafer, A. and Bottolo, L. and Hubner, N. and Emanueli, C. and Cook, S.A. and Petretto, E. Nature Communications 10 (1): 3616. 9 August 2019
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8Academic Journal
المؤلفون: Tadros, R., Francis, C., Xu, X., Vermeer, A.M.C., Harper, A.R., Huurman, R., Kelu Bisabu, K., Walsh, R., Hoorntje, E.T., Te Rijdt, W.P., Buchan, R.J., van Velzen, H.G., van Slegtenhorst, M.A., Vermeulen, J.M., Offerhaus, J.A., Bai, W., de Marvao, A., Lahrouchi, N., Beekman, L., Karper, J.C., Veldink, J.H., Kayvanpour, E., Pantazis, A., Baksi, A.J., Whiffin, N., Mazzarotto, F., Sloane, G., Suzuki, H., Schneider-Luftman, D., Elliott, P., Richard, P., Ader, F., Villard, E., Lichtner, P., Meitinger, T., Tanck, M.W.T., van Tintelen, J.P., Thain, A., McCarty, D., Hegele, R.A., Roberts, J.D., Amyot, J., Dubé, M.P., Cadrin-Tourigny, J., Giraldeau, G., L'Allier, P.L., Garceau, P., Tardif, J.C., Boekholdt, S.M., Lumbers, R.T., Asselbergs, F.W., Barton, P.J.R., Cook, S.A., Prasad, S.K., O'Regan, D.P., van der Velden, J., Verweij, K.J.H., Talajic, M., Lettre, G., Pinto, Y.M., Meder, B., Charron, P., de Boer, R.A., Christiaans, I., Michels, M., Wilde, A.A.M., Watkins, H., Matthews, P.M., Ware, J.S., Bezzina, C.R.
المصدر: Nat. Genet. 53, 128-134 (2021)
Relation: info:eu-repo/semantics/altIdentifier/pmid/33495596; info:eu-repo/semantics/altIdentifier/wos/WOS:000611467100001; info:eu-repo/semantics/altIdentifier/isbn/1061-4036; info:eu-repo/semantics
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9Academic Journal
المؤلفون: Taegtmeyer, A.B., Barton, P.J.R.
مصطلحات موضوعية: Editorials
وصف الملف: text/html
Relation: http://eurheartj.oxfordjournals.org/cgi/content/short/23/9/692; http://dx.doi.org/10.1053/euhj.2001.3053
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10Academic Journal
المؤلفون: Burton, P.B.J, Owen, V.J, Hafizi, S, Barton, P.J.R, Carr-White, G, Koh, T, De Souza, A, Yacoub, M.H, Pepper, J.R
مصطلحات موضوعية: Regular articles
وصف الملف: text/html
Relation: http://eurheartj.oxfordjournals.org/cgi/content/short/21/20/1708; http://dx.doi.org/10.1053/euhj.2000.2177
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11Academic Journal
المؤلفون: Burton, P.B.J., Yacoub, M.H., Barton, P.J.R.
مصطلحات موضوعية: Regular articles
وصف الملف: text/html
Relation: http://eurheartj.oxfordjournals.org/cgi/content/short/20/8/604; http://dx.doi.org/10.1053/euhj.1998.1231
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12Academic Journal
المؤلفون: Burton, P.B.J., Raff, M.C., Kerr, P., Yacoub, M.H., Barton, P.J.R.
المصدر: Developmental Biology ; volume 216, issue 2, page 659-670 ; ISSN 0012-1606
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13Academic Journal
المؤلفون: van Heesch, S., Witte, F., Schneider-Lunitz, V., Schulz, J.F., Adami, E., Faber, A., Kirchner, M., Maatz, H., Blachut, S., Sandmann, C.L., Kanda, M., Worth, C.L., Schafer, S., Calviello, L., Merriott, R., Patone, G., Hummel, O., Wyler, E., Obermayer, B., Mücke, M., Lindberg, E.L., Trnka, F., Memczak, S., Schilling, M., Felkin, L.E., Barton, P.J.R., Quaife, N.M., Vanezis, K., Diecke, S., Mukai, M., Mah, N., Oh, S.J., Kurtz, A., Schramm, C., Schwinge, D., Sebode, M., Harakalova, M., Asselbergs, F.W., Vink, A., de Weger, R.A., Viswanathan, S., Widjaja, A.A., Gärtner-Rommel, A., Milting, H., Dos Remedios, C., Knosalla, C., Mertins, P., Landthaler, M., Vingron, M., Linke, W.A., Seidman, J.G., Seidman, C.E., Rajewsky, N., Ohler, U., Cook, S.A., Hubner, N.
مصطلحات موضوعية: Cardiovascular and Metabolic Diseases, Cancer Research, Technology Platforms
Relation: The translational landscape of the human heart. van Heesch, S. and Witte, F. and Schneider-Lunitz, V. and Schulz, J.F. and Adami, E. and Faber, A. and Kirchner, M. and Maatz, H. and Blachut, S. and Sandmann, C.L. and Kanda, M. and Worth, C.L. and Schafer, S. and Calviello, L. and Merriott, R. and Patone, G. and Hummel, O. and Wyler, E. and Obermayer, B. and Mücke, M. and Lindberg, E.L. and Trnka, F. and Memczak, S. and Schilling, M. and Felkin, L.E. and Barton, P.J.R. and Quaife, N.M. and Vanezis, K. and Diecke, S. and Mukai, M. and Mah, N. and Oh, S.J. and Kurtz, A. and Schramm, C. and Schwinge, D. and Sebode, M. and Harakalova, M. and Asselbergs, F.W. and Vink, A. and de Weger, R.A. and Viswanathan, S. and Widjaja, A.A. and Gärtner-Rommel, A. and Milting, H. and Dos Remedios, C. and Knosalla, C. and Mertins, P. and Landthaler, M. and Vingron, M. and Linke, W.A. and Seidman, J.G. and Seidman, C.E. and Rajewsky, N. and Ohler, U. and Cook, S.A. and Hubner, N. Cell 178 (1): 242-260. 27 June 2019
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14Academic Journal
المؤلفون: 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.
المساهمون: DUKE-NUS MEDICAL SCHOOL
المصدر: Scopus
مصطلحات موضوعية: Dilated cardiomyopathy, Genetic testing, Next-generation sequencing, pathogenic variant
Relation: 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. (2018). A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy. Genetics in Medicine : 1-11. ScholarBank@NUS Repository. https://doi.org/10.1038/s41436-018-0036-2; http://scholarbank.nus.edu.sg/handle/10635/150243
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15Book
المؤلفون: Felkin L.E., Walsh R., Ware J.S., Yacoub M.H., Birks E.J., Barton P.J.R., Cook S.A.
المساهمون: DUKE-NUS MEDICAL SCHOOL
المصدر: Scopus
Relation: Felkin L.E., Walsh R., Ware J.S., Yacoub M.H., Birks E.J., Barton P.J.R., Cook S.A. (2016). Recovery of cardiac function in cardiomyopathy caused by titin truncation. JAMA Cardiology 1 (2) : 234-235. ScholarBank@NUS Repository. https://doi.org/10.1001/jamacardio.2016.0208; http://scholarbank.nus.edu.sg/handle/10635/149244
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16Academic Journal
المؤلفون: Whiffin N., Minikel E., Walsh R., O'Donnell-Luria A.H., Karczewski K., Ing A.Y., Barton P.J.R., Funke B., Cook S.A., Macarthur D., Ware J.S.
المساهمون: DUKE-NUS MEDICAL SCHOOL
المصدر: Scopus
مصطلحات موضوعية: allele frequency, clinical genomics, ExAC, inherited cardiovascular conditions, variant interpretation
Relation: Whiffin N., Minikel E., Walsh R., O'Donnell-Luria A.H., Karczewski K., Ing A.Y., Barton P.J.R., Funke B., Cook S.A., Macarthur D., Ware J.S. (2017). Using high-resolution variant frequencies to empower clinical genome interpretation. Genetics in Medicine 19 (10) : 1151-1158. ScholarBank@NUS Repository. https://doi.org/10.1038/gim.2017.26; http://scholarbank.nus.edu.sg/handle/10635/150629
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17Academic Journal
المؤلفون: 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.
المساهمون: DUKE-NUS MEDICAL SCHOOL
المصدر: Scopus
مصطلحات موضوعية: Dilated cardiomyopathy, Genetics, Mutations, Titin
Relation: 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. (2016). Titin truncating mutations: A rare cause of dilated cardiomyopathy in the young. Progress in Pediatric Cardiology 40 : 41-45. ScholarBank@NUS Repository. https://doi.org/10.1016/j.ppedcard.2016.01.003; http://scholarbank.nus.edu.sg/handle/10635/150845
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18Academic Journal
المؤلفون: 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.
المساهمون: DUKE-NUS MEDICAL SCHOOL
المصدر: Scopus
Relation: 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. (2015). Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Science Translational Medicine 7 (270) : 270ra6. ScholarBank@NUS Repository. https://doi.org/10.1126/scitranslmed.3010134; http://scholarbank.nus.edu.sg/handle/10635/150864
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19Academic Journal
المؤلفون: 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.
مصطلحات موضوعية: Cardiovascular and Metabolic Diseases
Relation: Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Roberts, A.M. and Ware, J.S. and Herman, D.S. and Schafer, S. and Baksi, J. and Bick, A.G. and Buchan, R.J. and Walsh, R. and John, S. and Wilkinson, S. and Mazzarotto, F. and Felkin, L.E. and Gong, S. and MacArthur, J.A.L. and Cunningham, F. and Flannick, J. and Gabriel, S.B. and Altshuler, D.M. and Macdonald, P.S. and Heinig, M. and Keogh, A.M. and Hayward, C.S. and Banner, N.R. and Pennell, D.J. and O'Regan, D.P. and San, T.R. and de Marvao, A. and Dawes, T.J.W. and Gulati, A. and Birks, E.J. and Yacoub, M.H. and Radke, M. and Gotthardt, M. and Wilson, J.G. and O'Donnell, C.J. and Prasad, S.K. and Barton, P.J.R. and Fatkin, D. and Hubner, N. and Seidman, J.G. and Seidman, C.E. and Cook, S.A. Science Translational Medicine 7 (270): 270ra6. 14 January 2015
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