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Nature Genetics

  1. Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.

    Rugg, E. L., Morley, S. M., Smith, F. J., Boxer, M., Tidman, M. J., Navsaria, H., Leigh, I. M. & Lane, E. B. Nov 1993 In : Nature Genetics. 5, 3, p. 294-300 7 p.

    Research output: Contribution to journalArticle

  2. Keratin 16 and keratin 17 mutations cause pachyonychia congenita

    McLean, W. H. I., Rugg, E. L., Lunny, D. P., Morley, S. M., Lane, E. B., Swensson, O., Dopping-Hepenstal, P. J. C., Griffiths, W. A. D., Eady, R. A. J., Higgins, C., Navsaria, H. A., Leigh, I. M., Strachan, T., Kunkeler, L. & Munro, C. S. Mar 1995 In : Nature Genetics. 9, 3, p. 273-278 6 p.

    Research output: Contribution to journalArticle

  3. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

    Smith, F. J. D., Eady, R. A. J., Leigh, I. M., McMillan, J. R., Rugg, E. L., Kelsell, D. P., Bryant, S. P., Spurr, N. K., Geddes, J. F., Kirtschig, G., Milana, G., De Bono, A. G., Owaribe, K., Wiche, G., Pulkkinen, L., Uitto, J., McLean, W. H. I. & Lane, E. B. 1996 In : Nature Genetics. 13, 4, p. 450-457 8 p.

    Research output: Contribution to journalArticle

  4. Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex

    Neubauer, G., King, A., Rappsilber, J., Calvio, C., Watson, M., Ajuh, P., Sleeman, J., Lamond, A. & Mann, M. Sep 1998 In : Nature Genetics. 20, 1, p. 46-50 5 p.

    Research output: Contribution to journalArticle

  5. MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

    Trockenbacher, A., Suckow, V., Foerster, J., Winter, J., Krauss, S., Ropers, H-H., Schneider, R. & Schweiger, S. 2001 In : Nature Genetics. 29, 3, p. 287-294 8 p.

    Research output: Contribution to journalArticle

  6. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

    Leigh, I. & 31 others Multiple Leiomyoma Consortium, Tomlinson, I. P. M., Alam, N. A., Rowan, A. J., Barclay, E., Jaeger, E. E. M., Kelsell, D., Gorman, P., Lamlum, H., Rahman, S., Roylance, R. R., Olpin, S., Bevan, S., Barker, K., Hearle, N., Houlston, R. S., Kiuru, M., Lehtonen, R., Karhu, A., Vilkki, S., Laiho, P., Eklund, C., Vierimaa, O., Aittomaki, K., Hietala, M., Sistonen, P., Paetau, A., Salovaara, R., Herva, R., Launonen, V. & Aaltonen, L. A. 2002 In : Nature Genetics. 30, 4, p. 406-410 5 p.

    Research output: Contribution to journalArticle

  7. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

    Kalscheuer, V. M. , Freude, K. , Musante, L. , Jensen, L. R. , Yntema, H. G. , Gécz, J. , Sefiani, A. , Hoffmann, K. , Moser, B. , Haas, S. , Gurok, U. , Haesler, S. , Beatriz, A. , Arpik, N. , Tzschach, A. , Hartmann, N. , Roloff, T-C. , Shoichet, S. , Hagens, O. & 14 others Tao, J., van Bokhoven, H., Turner, G., Chelly, J., Moraine, C., Fryns, J-P., Nuber, U., Hoeltzenbein, M., Scharff, C., Scherthan, H., Lenzner, S., Hamel, B. C. J., Schweiger, S. & Ropers, H-H. 2003 In : Nature Genetics. 35, 4, p. 313-315 3 p.

    Research output: Contribution to journalArticle

  8. The BRIP1 helicase functions independently of BRCA1 in the Fanconi anemia pathway for DNA crosslink repair

    Bridge, W. L., Vandenberg, C. J., Franklin, R. J. & Hiom, K. Sep 2005 In : Nature Genetics. 37, 9, p. 953-957 5 p.

    Research output: Contribution to journalLetter

  9. The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

    Levitus, M., Waisfisz, Q., Godthelp, B. C., de Vries, Y., Hussain, S., Wiegant, W. W., Elghalbzouri-Maghrani, E., Steltenpool, J., Rooimans, M. A., Pals, G., Arwert, F., Mathew, C. G., Zdzienicka, M. Z., Hiom, K., De Winter, J. P. & Joenje, H. Sep 2005 In : Nature Genetics. 37, 9, p. 934-935 2 p.

    Research output: Contribution to journalArticle

  10. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

    Smith, F. J. D., Irvine, A. D., Terron-Kwiatkowski, A., Sandilands, A., Campbell, L. E., Zhao, Y., Liao, H., Evans, A. T., Goudie, D. R., Lewis-Jones, S., Arseculeratne, G., Munro, C. S., Sergeant, A., O'Regan, G., Bale, S. J., Compton, J. G., DiGiovanna, J. J., Presland, R. B., Fleckman, P. & McLean, W. H. I. 2006 In : Nature Genetics. 38, 3, p. 337-342 6 p.

    Research output: Contribution to journalArticle

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