MacGowan, Stuart

Dr

  • 86 Citations
  • 3 h-Index
20152020

Research output per year

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Research Output

  • 86 Citations
  • 3 h-Index
  • 6 Article

Human Missense Variation is Constrained by Domain Structure and Highlights Functional and Pathogenic Residues

MacGowan, S., Madeira, F., Britto Borges, T., Schmittner, M. S., Cole, C. & Barton, G., 13 Apr 2017, In : BioRxiv. 35 p.

Research output: Contribution to journalArticle

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  • 76 Downloads (Pure)
    Open Access
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  • 37 Downloads (Pure)

    The Dundee Resource for Sequence Analysis and Structure Prediction

    MacGowan, S., Madeira, F., Britto-Borges, T., Warowny, M., Drozdetskiy, A., Procter, J. & Barton, G., 11 Nov 2019, In : Protein Science.

    Research output: Contribution to journalArticle

    Open Access
    File
  • 53 Downloads (Pure)

    Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

    Portnoi, M-F., Dumargne, M-C., Rojo, S., Witchel, S. F., Duncan, A. J., Eozenou, C., Bignon-Topalovic, J., Yatsenko, S. A., Rajkovic, A., Reyes-Mugica, M., Almstrup, K., Fusee, L., Srivastava, Y., Chantot-Bastaraud, S., Hyon, C., Louis-Sylvestre, C., Validire, P., de Malleray Pichard, C., Ravel, C., Christin-Maitre, S. & 18 others, Brauner, R., Rossetti, R., Persani, L., Charreau, E. H., Dain, L., Chiauzzi, V. A., Mazen, I., Rouba, H., Schluth-Bolard, C., MacGowan, S., McLean, W. H. I., Patin, E., Rajpert-De Meyts, E., Jauch, R., Achermann, J. C., Siffroi, J-P., McElreavey, K. & Bashamboo, A., 1 Apr 2018, In : Human Molecular Genetics. 27, 7, p. 1228-1240 13 p.

    Research output: Contribution to journalArticle

    Open Access
    File
  • 19 Citations (Scopus)
    151 Downloads (Pure)

    Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

    Mercier, S., Küry, S., Salort-Campana, E., Magot, A., Agbim, U., Besnard, T., Bodak, N., Bou-Hanna, C., Bréhéret, F., Brunelle, P., Caillon, F., Chabrol, B., Cormier-Daire, V., David, A., Eymard, B., Faivre, L., Figarella-Branger, D., Fleurence, E., Ganapathi, M., Gherardi, R. & 34 others, Goldenberg, A., Hamel, A., Igual, J., Irvine, A. D., Israël-Biet, D., Kannengiesser, C., Laboisse, C., Le Caignec, C., Mahé, J. Y., Mallet, S., MacGowan, S., McAleer, M. A., McLean, I., Méni, C., Munnich, A., Mussini, J. M., Nagy, P. L., Odel, J., O'Regan, G. M., Péréon, Y., Perrier, J., Piard, J., Puzenat, E., Sampson, J. B., Smith, F., Soufir, N., Tanji, K., Thauvin, C., Ulane, C., Watson, R. M., Khumalo, N. P., Mayosi, B. M., Barbarot, S. & Bézieau, S., 15 Oct 2015, In : Orphanet Journal of Rare Diseases. 10, 16 p., 135.

    Research output: Contribution to journalArticle

    Open Access
    File
  • 9 Citations (Scopus)
    144 Downloads (Pure)