Division of Evolution, Infection and Genomics

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  • 2023

    A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinases in extracellular matrix abnormalities

    Al-Thani, M., Goodwin-Trotman, M., Bell, S., Patel, K., Fleming, L. K., Vilain, C., Abramowicz, M., Allan, S. M., Wang, T., Cader, Z., Horsburgh, K., van Agtmael, T., Sinha, S., Markus, H. S. & Granata, A., 2023, bioRxiv: Cold Spring Harbor Laboratory Press, (bioRxiv).

    Research output: Working paper › Preprint

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  • Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

    Morra, A., Schreurs, M. A. C., Andrulis, I. L., Anton-Culver, H., Augustinsson, A., Beckmann, M. W., Behrens, S., Bojesen, S. E., Bolla, M. K., Brauch, H., Broeks, A., Buys, S. S., Camp, N. J., Castelao, J. E., Cessna, M. H., Chang-Claude, J., Chung, W. K., Collaborators, N., Colonna, S. V., Couch, F. J., & 97 othersCox, A., Cross, S. S., Czene, K., Daly, M. B., Dennis, J., Devilee, P., Dörk, T., Dunning, A. M., Dwek, M., Easton, D. F., Eccles, D. M., Eriksson, M., Evans, D. G., Fasching, P. A., Fehm, T. N., Figueroa, J. D., Flyger, H., Gabrielson, M., Gago-Dominguez, M., García-Closas, M., García-Sáenz, J. A., Genkinger, J., Grassmann, F., Gündert, M., Hahnen, E., Haiman, C. A., Hamann, U., Harrington, P. A., Hartikainen, J. M., Hoppe, R., Hopper, J. L., Houlston, R. S., Howell, A., Investigators, A., Investigators, KC., Jakubowska, A., Janni, W., Jernström, H., John, E. M., Johnson, N., Kristensen, V. N., Kurian, A. W., Lambrechts, D., Marchand, L. L., Lindblom, A., Lubiński, J., Lux, M. P., Mannermaa, A., Mavroudis, D., Mulligan, A. M., Muranen, T. A., Nevanlinna, H., Nevelsteen, I., Neven, P., Newman, W. G., Obi, N., Offit, K., Olshan, A. F., Park-Simon, T-W., Peterlongo, P., Phillips, K-A., Plaseska-Karanfilska, D., Polley, E. C., Presneau, N., Pylkäs, K., Rack, B., Radice, P., Rashid, M. U., Rhenius, V., Robson, M., Romero, A., Saloustros, E., Sawyer, E. J., Schmutzler, R. K., Schuetze, S., Shah, M., Smichkoska, S., Southey, M. C., Tapper, W. J., Teras, L. R., Tollenaar, R. A. E. M., Tomczyk, K., Tomlinson, I., Troester, M. A., Vachon, C. M., van Veen, E. M., Wang, Q., Wendt, C., Wildiers, H., Winqvist, R., Ziogas, A., Hall, P., Pharoah, P. D. P., Adank, M. A., Hollestelle, A., Schmidt, M. K. & Hooning, M. J., 13 Feb 2023, Research Square: Research Square, (Research Square).

    Research output: Working paper › Preprint

  • A SYSTEMATIC RE-ANALYSIS OF COPY NUMBER LOSSES OF UNCERTAIN CLINICAL SIGNIFICANCE

    Burghel, G. J., Ellingford, J. M., Wright, R., Bradford, L., Miller, J., Watt, C., Edgerley, J., Naeem, F. & Banka, S., 19 Jul 2023, Cold Spring Harbor Laboratory Press, (medRxiv).

    Research output: Working paper › Preprint

    Open Access
  • 2022

    Automatic assessment of mammographic density using a deep transfer learning method

    Squires, S., Harkness, E., Evans, D. G. & Astley, S. M., 2 Sept 2022, (medRxiv).

    Research output: Working paper › Preprint

  • 2021

    The contribution of common regulatory and protein-coding TYR variants in the genetic architecture of albinism

    Michaud, V., Lasseaux, E., Green, D., Gerrard, D. T., Plaisant, C., -, UK. B. E. A. V. C., Fitzgerald, T., Birney, E., Arveiler, B. & Black, G., 1 Nov 2021, medRxiv.

    Research output: Working paper › Preprint

  • 2020

    Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

    den Hoed, J., de Boer, E., Voisin, N., Dingemans, A., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S., Banka, S., Bena, F., Ben-Zeev, B., Bonagura, V., Bruel, A., Brunet, T., Brunner, H. G., Chew, H. B., Chrast, J., Cimbalistienė, L., Coon, H., study, T. DDD., & 78 othersDélot, E. C., Démurger, F., Denommé-Pichon, A-S., Depienne, C., Donnai, D., Dyment, D. A., Elpeleg, O., Faivre, L., Gilissen, C., Granger, L., Haber, B., Hachiya, Y., Abedi, Y. H., Hanebeck, J., Hehir-Kwa, J. Y., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K. L., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A. A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P., Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M. A., Miyatake, S., Mizuguchi, T., Moey, L. H., Mohammed, S., Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T. B., Parker, M., Petersen, A. K., Pfundt, R., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J. A., Santiago-Sim, T., Schwager, C., Sinnema, M., Blok, L. S., Spillmann, R. C., Stegmann, A. P. A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-dos-Santos, J. H., Schrier Vergano, S. A., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M. C., Zuccarelli, B. D., Kini, U., Newbury, D. F., Kleefstra, T., Reymond, A., Fisher, S. E. & Vissers, L. E. L. M., 24 Oct 2020, bioRxiv, p. 1-24, 24 p.

    Research output: Working paper › Preprint

    Open Access

  • New pathogenic variants and insights into pathogenic mechanisms in GRK1-related Oguchi disease

    Poulter, J. A., Gravett, M. S. C., Taylor, R. L., Fujinami, K., Zaeytijd, J. D., Bellingham, J., Rehman, A. U., Hayashi, T., Kondo, M., Rehman, A., Ansar, M., Donnelly, D., Toomes, C., Ali, M., Baere, E. D., Leroy, B. P., Davies, N. P., Henderson, R. H., Webster, A. R., Rivolta, C., & 7 othersMahroo, O. A., Arno, G., Black, G. C., McKibbin, M., Harris, S. A., Khan, K. N. & Inglehearn, C. F., 25 Mar 2020, bioRxiv, 31 p.

    Research output: Working paper › Preprint

  • 2019

    Mutators drive evolution of multi-resistance to antibiotics

    Gifford, D. R., Berríos-Caro, E., Joerres, C., Galla, T. & Knight, C. G., 21 May 2019, bioRxiv, (bioRxiv).

    Research output: Working paper › Preprint