MacGowan, Stuart

Dr

  • 77 Citations
  • 3 h-Index
20152020
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Fingerprint Dive into the research topics where Stuart MacGowan is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 5 Similar Profiles
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Dermatitis Medicine & Life Sciences
Proteins Medicine & Life Sciences
Point Mutation Medicine & Life Sciences
Sequence Alignment Medicine & Life Sciences
Sequence Analysis Medicine & Life Sciences
Hypersensitivity Medicine & Life Sciences

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Research Output 2015 2020

  • 77 Citations
  • 3 h-Index
  • 7 Article
44 Downloads (Pure)

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

File
RNA Splice Sites
Ligands
Proteins
Sequence Alignment
DNA-Binding Proteins
7 Downloads (Pure)
Open Access
File
Point Mutation
Proteins
Intellectual Disability
Mutation
Protein Folding
24 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
Sequence Analysis
Workflow
Sequence Alignment
Population Genetics
Parity
13 Citations (Scopus)
110 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
Sexual Development
Mutation
Genes
Primary Ovarian Insufficiency
Male Infertility