Items where authors include "Cole, T."
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Hughes, L.A., McKay Bounford, K., Webb, E. et al. (9 more authors) (2019) Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD). Endocrine Connections, 8 (2). pp. 100-110. ISSN 2049-3614
Webb, E.A., Balasubramanian, M., Fratzl-Zelman, N. et al. (16 more authors) (2017) Phenotypic spectrum in osteogenesis imperfecta due to mutations in TMEM38B: unravelling a complex cellular defect. Journal of Clinical Endocrinology and Metabolism, 102 (6). pp. 2019-2028. ISSN 0021-972X
McRae, J.F., Clayton, S., Fitzgerald, T.W. et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542 (7642). pp. 433-438. ISSN 0028-0836
Akawi, N., McRae, J., Ansari, M. et al. (40 more authors) (2015) Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families. Nature Genetics, 47 (11). pp. 1363-1369. ISSN 1061-4036
Fitzgerald, T.W., Gerety, S.S., Jones, W.D. et al. (263 more authors) (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519. pp. 223-228. ISSN 0028-0836
Spurdle, A.B., Couch, F.J., Parsons, M.T. et al. (195 more authors) (2014) Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia. Breast Cancer Research, 16. 3419. ISSN 1465-5411
Proceedings Paper
Ezeani, I. orcid.org/0000-0001-8286-9997, Rayson, P. orcid.org/0000-0002-1257-2191, Gregory, I. orcid.org/0000-0001-8745-2242 et al. (10 more authors) (2023) Towards an Extensible Framework for Understanding Spatial Narratives. In: Moncla, L., Martins, B., McDonough, K. and Hu, X., (eds.) Proceedings of the 7th ACM SIGSPATIAL International Workshop on Geospatial Humanities. SIGSPATIAL '23: The 31st ACM International Conference on Advances in Geographic Information Systems, 13-16 Nov 2023, Hamburg, Germany. ACM , pp. 1-10.