Nature Genetics, 1061-4036

Subtype-specific regulatory network rewiring in acute myeloid leukemia

Assi, S. A., Imperato, M. R., Coleman, D. J. L., Pickin, A., Potluri, S., Ptasinska, A., Chin, P. S., Blair, H., Cauchy, P., James, S. R., Zacarias-cabeza, J., Gilding, L. N., Beggs, A., Clokie, S., Loke, J. C., Jenkin, P., Uddin, A., Delwel, R., Richards, S. J., Raghavan, M. & 4 others, Griffiths, M. J., Heidenreich, O., Peter Cockerill & Conny Bonifer, 12 Nov 2018, In : Nature Genetics. 51, 1, p. 151-162 12 p.

Research output: Contribution to journal › Article

Multi-Ethnic Genome-wide Association Study for Atrial Fibrillation

Roselli, C., Chaffin, M. D., Weng, L-C., Aeschbacher, S., Ahlberg, G., Albert, C. M., Almgren, P., Alonso, A., Anderson, C. D., Aragam, K. G., Arking, D. E., Barnard, J., Bartz, T. M., Benjamin, E. J., Bihlmeyer, N. A., Bis, J. C., Bloom, H. L., Boerwinkle, E., Bottinger, E. P., Brody, J. A. & 198 others, Calkins, H., Campbell, A., Cappola, T. P., Carlquist, J., Chasman, D. L., Chen, L. Y., Chen, Y-D. I., Choi, E-K., Choi, S. H., Christophersen, I. E., Chung, M. K., Cole, J. W., Conen, D., Cook, J., Crijns, H. J., Cutler, M. J., Damrauer, S. M., Daniels, B. R., Darbar, D., Delgado, G., Denny, J. C., Dichgans, M., Dorr, M., Dudink, E. A., Dudley, S. C., Esa, N., Esko, T., Eskola, M., Fatkin, D., Felix, S. B., Ford, I., Franco, O. H., Geelhoed, B., Grewal, R., Gudnason, V., Guo, X., Gupta, N., Gustafsson, S., Gutmann, R., Hamsten, A., Harris, T. B., Hayward, C., Heckbert, S. R., Hernesniemi, J., Hocking, L. J., Hofman, A., Horimoto, A. R. V. R., Huang, J., Huang, P. L., Huffman, J., Ingelsson, E., Gucuk Ipek, E., Ito, K., Jimenez-Conde, J., Johnson, R., Wouter Jukema, J., Kaab, S., Kähönen, M., Kamatani, Y., Kane, J. P., Kastrati, A., Kathiresan, S., Katschnig-Winter, P., Kavousi, M., Kessler, T., Kietselaer, B. L., Paulus Kirchhof, Kleber, M. E., Knight, S., Krieger, J. E., Kubo, M., Launer, L. J., Laurikka, J., Lehtimäki, T., Leineweber, K., Lemaitre, R. N., Li, M., Lim, H. E., Lin, H. J., Lin, H., Lind, L., Lindgren, C. M., Lokki, M-L., London, B., Loos, R. J. F., Low, S-K., Lu, Y., Lyytikäinen, L-P., Macfarlane, P. W., Magnusson, P. K., Mahajan, A., Malik, R., Mansur, A. J., Marcus, G. M., Margolin, L., Margulies, K. B., März, W., McManus, D. D., Melander, O., Mohanty, S., Montgomery, J. A., Morley, M. P., Morris, A. P., Müller-Nurasyid, M., Natale, A., Nazarian, S., Neumann, B., Newton-Cheh, C., Niemeijer, M. N., Nikus, K., Nilsson, P. M., Noordam, R., Oellers, H., Olesen, M. S., Orho-Melander, M., Padmanabhan, S., Pak, H-N., Pare, G., Pedersen, N. L., Pera, J., Pereira, A., Porteous, D., Psaty, B. M., Pulit, S. L., Pullinger, C. R., Rader, D. J., Refsgaard, L., Ribases, M., Ridker, P. M., Rienstra, M., Risch, L., Roden, D., Rosand, J., Rosenberg, M. A., Rost, N., Rotter, J. I., Saba, S., Sandhu, R. K., Schnabel, R. B., Schramm, K., Schunkert, H., Schurman, C., Scott, S. A., Seppala, I., Shaffer, C., Shah, S. H., Shalaby, A. A., Shim, J., Shoemaker, M. B., Siland, J. E., Sinisalo, J., Sinner, M. F., Slowik, A., Smith, A. V., Smith, B. H., Smith, J. G., Smith, J. D., Smith, N. L., Soliman, E. Z., Sotoodehnia, N., Stricker, B. H., Sun, A., Sun, H., Svendsen, J. H., Tanaka, T., Tanriverdi, K., Taylor, K. D., Teder-Laving, M., Teumer, A., Theriault, S., Trompet, S., Tucker, N. R., Tveit, A., Uitterlinden, A. G., Van der Harst, P., Van Gelder, I. C., Van Wagoner, D. R., Verweij, N., Vlachopoulou, E., Volker, U., Wang, B., Weeke, P. E., Weijs, B., Weiss, R., Weiss, S., Wells, Q., Wiggins, K. L., Wong, J., Woo, D., Worrall, B. B., Yang, P-S., Yao, J., Yoneda, Z. T., Zeller, T., Zeng, L., Lubitz, S. A., Lunetta, K. L. & Ellinor, P. T., 11 Jun 2018, In : Nature Genetics.

Research output: Contribution to journal › Article

Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease

Ji, S-G., Juran, B. D., Mucha, S., Folseraas, T., Jostins, L., Melum, E., Kumasaka, N., Atkinson, E. J., Schlicht, E. M., Liu, J. Z., Shah, T., Gutierrez-Achury, J., Boberg, K. M., Bergquist, A., Vermeire, S., Eksteen, B., Durie, P. R., Farkkila, M., Müller, T., Schramm, C. & 31 others, Sterneck, M., Weismüller, T. J., Gotthardt, D. N., Ellinghaus, D., Braun, F., Teufel, A., Laudes, M., Lieb, W., Jacobs, G., Beuers, U., Weersma, R. K., Wijmenga, C., Marschall, H-U., Milkiewicz, P., Pares, A., Kontula, K., Chazouillères, O., Invernizzi, P., Goode, E., Spiess, K., Moore, C., Sambrook, J., Ouwehand, W. H., Roberts, D. J., Danesh, J., Floreani, A., Gulamhusein, A. F., Eaton, J. E., Schreiber, S., Gideon Hirschfield & UK-PSC Consortium, 2017, In : Nature Genetics. 49, p. 269–273

Research output: Contribution to journal › Article

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

John Reynolds, Martin Higgs, Anastasia Zlatanou, Vernet, A., Malcolm Taylor & Grant Stewart, 2017, In : Nature Genetics. 49, p. 537–549

Research output: Contribution to journal › Article

Five endometrial cancer risk loci identified through genome-wide association analysis

Cheng, T. H., Thompson, D. J., O'Mara, T. A., Painter, J. N., Glubb, D. M., Flach, S., Lewis, A., French, J. D., Freeman-Mills, L., Church, D., Gorman, M., Martin, L., Hodgson, S., Webb, P. M., Attia, J., Holliday, E. G., McEvoy, M., Scott, R. J., Henders, A. K., Martin, N. G. & 31 others, Montgomery, G. W., Nyholt, D. R., Ahmed, S., Healey, C. S., Shah, M., Dennis, J., Fasching, P. A., Beckmann, M. W., Hein, A., Ekici, A. B., Hall, P., Czene, K., Darabi, H., Li, J., Dörk, T., Dürst, M., Hillemanns, P., Runnebaum, I., Amant, F., Schrauwen, S., Zhao, H., Lambrechts, D., Depreeuw, J., Dowdy, S. C., Goode, E. L., Fridley, B. L., Winham, S. J., Njølstad, T. S., Salvesen, H. B., National Study of Endometrial Cancer Genetics Group (NSECG) & Ian Tomlinson, Jun 2016, In : Nature Genetics. 48, 6, p. 667-674 8 p.

Research output: Contribution to journal › Article

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

Grant Stewart, Martin Higgs & Anastasia Zlatanou, 2016, In : Nature Genetics. 48, p. 36-43

Research output: Contribution to journal › Article

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

de Angelis, M. H., Nicholson, G., Selloum, M., White, J. K., Morgan, H., Ramirez-Solis, R., Sorg, T., Wells, S., Fuchs, H., Fray, M., Adams, D. J., Adams, N. C., Adler, T., Aguilar-Pimentel, A., Ali-Hadji, D., Amann, G., Andre, P., Atkins, S., Auburtin, A., Ayadi, A. & 149 others, Becker, J., Becker, L., Bedu, E., Bekeredjian, R., Birling, M. C., Blake, A., Bottomley, J., Bowl, M. R., Brault, V., Busch, D. H., Bussell, J. N., Calzada-Wack, J., Cater, H., Champy, M. F., Charles, P., Chevalier, C., Chiani, F., Codner, G. F., Combe, R., Cox, R., Dalloneau, E., Dierich, A., Di Fenza, A., Doe, B., Duchon, A., Eickelberg, O., Esapa, C. T., Fertak, L. E., Feigel, T., Emelyanova, I., Estabel, J., Favor, J., Flenniken, A., Gambadoro, A., Garrett, L., Gates, H., Gerdin, A. K., Georgios Gkoutos, Greenaway, S., Glasl, L., Goetz, P., Da Cruz, I. G., Gotz, A., Graw, J., Guimond, A., Hans, W., Hicks, G., Holter, S. M., Hofler, H., Hancock, J. M., Hoehndorf, R., Hough, T., Houghton, R., Hurt, A., Ivandic, B., Jacobs, H., Jacquot, S., Jones, N., Karp, N. A., Katus, H. A., Kitchen, S., Klein-Rodewald, T., Klingenspor, M., Klopstock, T., Lalanne, V., Leblanc, S., Lengger, C., le Marchand, E., Ludwig, T., Lux, A., McKerlie, C., Maier, H., Mandel, J. L., Marschall, S., Mark, M., Melvin, D. G., Meziane, H., Micklich, K., Mittelhauser, C., Monassier, L., Moulaert, D., Muller, S., Naton, B., Neff, F., Nolan, P. M., Nutter, L. M., Ollert, M., Pavlovic, G., Pellegata, N. S., Peter, E., Petit-Demouliere, B., Pickard, A., Podrini, C., Potter, P., Pouilly, L., Puk, O., Richardson, D., Rousseau, S., Quintanilla-Fend, L., Quwailid, M. M., Racz, I., Rathkolb, B., Riet, F., Rossant, J., Roux, M., Rozman, J., Ryder, E., Salisbury, J., Santos, L., Schable, K. H., Schiller, E., Schrewe, A., Schulz, H., Steinkamp, R., Simon, M., Stewart, M., Stoger, C., Stoger, T., Sun, M., Sunter, D., Teboul, L., Tilly, I., Tocchini-Valentini, G. P., Tost, M., Treise, I., Vasseur, L., Velot, E., Vogt-Weisenhorn, D., Wagner, C., Walling, A., Wattenhofer-Donze, M., Weber, B., Wendling, O., Westerberg, H., Willershauser, M., Wolf, E., Wolter, A., Wood, J., Wurst, W., Yildirim, A. O., Zeh, R., Zimmer, A., Zimprich, A., Holmes, C., Steel, K. P., Herault, Y., Gailus-Durner, V., Mallon, A. M. & Brown, S. D., 1 Sep 2015, In : Nature Genetics. 47, 9, p. 969-978 10 p.

Research output: Contribution to journal › Article

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Taylor, J. C., Martin, H. C., Lise, S., Broxholme, J., Cazier, J-B., Rimmer, A., Kanapin, A., Lunter, G., Fiddy, S., Allan, C., Aricescu, A. R., Attar, M., Babbs, C., Becq, J., Beeson, D., Bento, C., Bignell, P., Blair, E., Buckle, V. J., Bull, K. & 90 others, Cais, O., Cario, H., Chapel, H., Copley, R. R., Cornall, R., Craft, J., Dahan, K., Davenport, E. E., Dendrou, C., Devuyst, O., Fenwick, A. L., Flint, J., Fugger, L., Gilbert, R. D., Goriely, A., Green, A., Greger, I. H., Grocock, R., Gruszczyk, A. V., Hastings, R., Hatton, E., Higgs, D., Hill, A., Holmes, C., Howard, M., Hughes, L., Humburg, P., Johnson, D., Karpe, F., Kingsbury, Z., Kini, U., Knight, J. C., Krohn, J., Lamble, S., Langman, C., Lonie, L., Luck, J., McCarthy, D., McGowan, S. J., McMullin, M. F., Miller, K. A., Murray, L., Németh, A. H., Nesbit, M. A., Nutt, D., Ormondroyd, E., Oturai, A. B., Pagnamenta, A., Patel, S. Y., Percy, M., Petousi, N., Piazza, P., Piret, S. E., Polanco-Echeverry, G., Popitsch, N., Powrie, F., Pugh, C., Quek, L., Robbins, P. A., Robson, K., Russo, A., Sahgal, N., van Schouwenburg, P. A., Schuh, A., Silverman, E., Simmons, A., Sørensen, P. S., Sweeney, E., Taylor, J., Thakker, R. V., Tomlinson, I., Trebes, A., Twigg, S. R. F., Uhlig, H. H., Vyas, P., Vyse, T., Wall, S. A., Watkins, H., Whyte, M. P., Witty, L., Wright, B., Yau, C., Buck, D., Humphray, S., Ratcliffe, P. J., Bell, J. I., Wilkie, A. O. M., Bentley, D., Donnelly, P. & McVean, G., Jul 2015, In : Nature Genetics. 47, 7, p. 717-26 10 p.

Research output: Contribution to journal › Article

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

Shlien, A., Campbell, B. B., de Borja, R., Alexandrov, L. B., Merico, D., Wedge, D., Van Loo, P., Tarpey, P. S., Coupland, P., Behjati, S., Pollett, A., Lipman, T., Heidari, A., Deshmukh, S., Avitzur, N., Meier, B., Gerstung, M., Hong, Y., Merino, D. M., Ramakrishna, M. & 31 others, Remke, M., Roland Arnold, Panigrahi, G. B., Thakkar, N. P., Hodel, K. P., Henninger, E. E., Göksenin, A. Y., Bakry, D., Charames, G. S., Druker, H., Lerner-Ellis, J., Mistry, M., Dvir, R., Grant, R., Elhasid, R., Farah, R., Taylor, G. P., Nathan, P. C., Alexander, S., Ben-Shachar, S., Ling, S. C., Gallinger, S., Constantini, S., Dirks, P., Huang, A., Scherer, S. W., Grundy, R. G., Durno, C., Aronson, M., Gartner, A. & Biallelic Mismatch Repair Deficiency Consortium, 2 Feb 2015, In : Nature Genetics. 47, 3, p. 257-262 6 p.

Research output: Contribution to journal › Article

Mutations in the deubiquitinase gene USP8 cause Cushing's disease

Reincke, M., Cristina Ronchi, Sbiera, S., Hayakawa, A., Theodoropoulou, M., Oswald, A., Beuschlein, F., Meitinger, T., Mizuno-Yamasaki, E., Kawaguchi, K., Saeki, Y., Tanaka, K., Wieland, T., Graaf, E., Saeger, W., Allolio, B., Buchfelder, M., Strom, T. M., Fassnacht, M. & Komada, M., Jan 2015, In : Nature Genetics. 47, 1, p. 31-38 8 p.

Research output: Contribution to journal › Article