• 436 Citations
  • 7 h-Index
19972014

Research output per year

If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Luís Manuel de Almeida Nunes is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 7 Similar Profiles

Research Output at NOVA

  • 436 Citations
  • 7 h-Index
  • 5 Article
  • 1 Conference contribution

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Kaiser, F. J., Ansari, M., Braunholz, D., Gil-Rodríguez, M. C., Decroos, C., Wilde, J. J., Fincher, C. T., Kaur, M., Bando, M., Amor, D. J., Atwal, P. S., Bahlo, M., Bowman, C. M., Bradley, J. J., Brunner, H. G., Clark, D., Campo, M. D., Di Donato, N., Diakumis, P., Dubbs, H. & 64 others, Dyment, D. A., Eckhold, J., Ernst, S., Ferreira, J. C., Francey, L. J., Gehlken, U., Guillén-Navarro, E., Gyftodimou, Y., Hall, B. D., Hennekam, R., Hudgins, L., Hullings, M., Hunter, J. M., Yntema, H., Innes, A. M., Kline, A. D., Krumina, Z., Lee, H., Leppig, K., Lynch, S. A., Mallozzi, M. B., Mannini, L., Mckee, S., Mehta, S. G., Micule, I., Consortium, C. R. C., Mohammed, S., Moran, E., Mortier, G. R., Moser, J. A. S., Noon, S. E., Nozaki, N., Nunes, L., Pappas, J. G., Penney, L. S., Pérez-Aytés, A., Petersen, M. B., Puisac, B., Revencu, N., Roeder, E., Saitta, S., Scheuerle, A. E., Schindeler, K. L., Siu, V. M., Stark, Z., Strom, S. P., Thiese, H., Vater, I., Willems, P., Williamson, K., Wilson, L. C., Hakonarson, H., Quintero-Rivera, F., Wierzba, J., Musio, A., Gillessen-Kaesbach, G., Ramos, F. J., Jackson, L. G., Shirahige, K., Pié, J., Christianson, D. W., Krantz, I. D., Fitzpatrick, D. R. & Deardorff, M. A., 1 Jan 2014, In : Human molecular genetics. 23, 11, p. 2888-2900 13 p., ddu002.

Research output: Contribution to journalArticle

  • 73 Citations (Scopus)

    Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

    Anderson, B. H., Kasher, P. R., Mayer, J., Szynkiewicz, M., Jenkinson, E. M., Bhaskar, S. S., Urquhart, J. E., Daly, S. B., Dickerson, J. E., O'Sullivan, J., Leibundgut, E. O., Muter, J., Abdel-Salem, G. M. H., Babul-Hirji, R., Baxter, P., Berger, A., Bonafé, L., Brunstom-Hernandez, J. E., Buckard, J. A., Chitayat, D. & 44 others, Chong, W. K., Cordelli, D. M., Ferreira, P., Fluss, J., Forrest, E. H., Franzoni, E., Garone, C., Hammans, S. R., Houge, G., Hughes, I., Jacquemont, S., Jeannet, P. Y., Jefferson, R. J., Kumar, R., Kutschke, G., Lundberg, S., Loureno, C. M., Mehta, R., Naidu, S., Nischal, K. K., Nunes, L., Ounap, K., Philippart, M., Prabhakar, P., Risen, S. R., Schiffmann, R., Soh, C., Stephenson, J. B. P., Stewart, H., Stone, J., Tolmie, J. L., Van Der Knaap, M. S., Vieira, J. P., Vilain, C. N., Wakeling, E. L., Wermenbol, V., Whitney, A., Lovell, S. C., Meyer, S., Livingston, J. H., Baerlocher, G. M., Black, G. C. M., Rice, G. I. & Yanick, J., 1 Mar 2012, In : Nature Genetics. 44, 3, p. 338-342 5 p.

    Research output: Contribution to journalArticle

  • 139 Citations (Scopus)

    Novel and recurrent non-truncating mutations of the MITF basic domain: Genotypic and phenotypic variations in Waardenburg and Tietz syndromes

    Léger, S., Balguerie, X., Goldenberg, A., Drouin-Garraud, V., Cabot, A., Amstutz-Montadert, I., Young, P., Joly, P., Bodereau, V., Holder-Espinasse, M., Jamieson, R. V., Krause, A., Chen, H., Baumann, C., Nunes, L., Dollfus, H., Goossens, M. & Pingault, V., 1 May 2012, In : European Journal Of Human Genetics. 20, 5, p. 584-587 4 p.

    Research output: Contribution to journalArticle

  • 22 Citations (Scopus)

    Cancro da mama na ilha do Pico (1998-2008) uma perspectiva epidemiológica

    Translated title of the contribution: Breast cancer on Pico's island (1998-2008) An Epidemiological PerspectiveMendes, A. S., Mateus, F., Nogueira, J., Branco, L., Rodrigues, L., Dias, S. S., Nunes, L. & Torgal, J., 2011, In : Acta medica portuguesa. 24, 5, p. 687-694 8 p.

    Research output: Contribution to journalArticle

    Open Access
    File
  • 1 Citation (Scopus)
    26 Downloads (Pure)

    Monitoring programmes: The fundamental component of estuaries management. how to design one?

    Nunes, L. M., Caeiro, S., Ramos, T. A. B., Cunha, M. C., Ribeiro, L. & Costa, M. H., 2005, Coastal Engineering VII - Modelling, Measurements, Engineering and Management of Seas and Coastal Regions. WITPress, Vol. 78. p. 37-53 17 p.

    Research output: Chapter in Book/Report/Conference proceedingConference contribution