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Browse by Current Cardiff authors

Number of items: 16.

West, Hannah D. ORCID:, Nellist, Mark, Brouwer, Rutger W. W., van den Hout-van Vroonhoven, Mirjam C. G. N., de Almeida, Luiz Gustavo Dufner, Hendriks, Femke, Elfferich, Peter, Raja, Meera, Giles, Peter ORCID:, Alfano, Rosa M., Peron, Angela, Sznajer, Yves, De Waele, Liesbeth, Jansen, Anna, Koopmans, Marije, Kievit, Anneke, Farach, Laura S., Northrup, Hope, Sampson, Julian R. ORCID:, Thomas, Laura E. ORCID:, van IJcken, Wilfred F. J. and Chen, Jian-Min 2023. Targeted genomic sequencing of TSC1 and TSC2 reveals causal variants in individuals for whom previous genetic testing for tuberous sclerosis complex was normal. Human Mutation: Variation, Informatics and Disease 2023 , 4899372. 10.1155/2023/4899372

Robinson, Philip S., Thomas, Laura E. ORCID:, Abascal, Federico, Jung, Hyunchul, Harvey, Luke M. R., West, Hannah D. ORCID:, Olafsson, Sigurgeir, Lee, Bernard C. H., Coorens, Tim H. H., Lee-Six, Henry, Butlin, Laura ORCID:, Lander, Nicola, Truscott, Rebekah, Sanders, Mathijs A., Lensing, Stefanie V., Buczacki, Simon J. A., ten Hoopen, Rogier, Coleman, Nicholas, Brunton-Sim, Roxanne, Rushbrook, Simon, Saeb-Parsy, Kourosh, Lalloo, Fiona, Campbell, Peter J., Martincorena, Iñigo, Sampson, Julian R. ORCID: and Stratton, Michael R. 2022. Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells. Nature Communications 13 (1) , 3949. 10.1038/s41467-022-31341-0

Short, Emma, Thomas, Laura E. ORCID:, Davies, Alice, Bolton, Alice, Maynard, Julie, Giles, Peter ORCID:, Mort, Matthew, Consoli, Claudia, Egner, Iris, Jundi, Hala and Sampson, Julian R. ORCID: 2020. APC transcription studies and molecular diagnosis of familial adenomatous polyposis. European Journal of Human Genetics 28 (1) , pp. 118-121. 10.1038/s41431-019-0486-2

Hurley, Joanna J., Thomas, Laura E. ORCID:, Walton, Sarah-Jane, Thomas-Gibson, Siwan, Haycock, Adam, Suzuki, Noriko, Mort, Matthew, Williams, Geraint ORCID:, Morgan, Meleri, Clark, Susan K., Sampson, Julian R. ORCID: and Dolwani, Sunil ORCID: 2018. The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis. Gastrointestinal Endoscopy 88 (4) , pp. 665-673. 10.1016/j.gie.2018.04.2347

Tye, Charlotte, Thomas, Laura E. ORCID:, Sampson, Julian R. ORCID:, Lewis, Juli, O'Callaghan, Finbar, Yates, John R.W. and Bolton, Patrick F. 2018. Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms? Epilepsia Open 3 (2) , pp. 276-280. 10.1002/epi4.12111

Thomas, Laura E. ORCID:, Hurley, Joanna J., Meuser, Elena, Jose, Sian, Ashelford, Kevin E. ORCID:, Mort, Matthew, Idziaszczyk, Shelley, Maynard, Julie, Leon Brito, Helena, Harry, Manon, Walters, Angharad, Raja, Meera, Walton, Sarah-Jane, Dolwani, Sunil ORCID:, Williams, Geraint T. ORCID:, Morgan, Meleri, Moorghen, Morgan, Clark, Susan K. and Sampson, Julian R. ORCID: 2017. Burden and profile of somatic mutation in duodenal adenomas from patients with familial adenomatous- and MUTYH-associated polyposis. Clinical Cancer Research 23 (21) , pp. 6721-6732. 10.1158/1078-0432.CCR-17-1269

Short, Emma, Thomas, Laura E. ORCID:, Hurley, Joanna, Jose, Sian and Sampson, Julian Roy ORCID: 2015. Inherited predisposition to colorectal cancer: towards a more complete picture. Journal of Medical Genetics 52 , pp. 791-796. 10.1136/jmedgenet-2015-103298

Rad, Ellie, Dodd, Kayleigh M., Thomas, Laura E. ORCID:, Upadhyaya, Meena and Tee, Andrew ORCID: 2015. STAT3 and HIF1 signaling drives oncogenic cellular phenotypes in malignant peripheral nerve sheath tumors. Molecular Cancer Research 13 (7) , p. 1149. 10.1158/1541-7786.MCR-14-0182

Thomas, Laura E. ORCID:, Winston, Jincy, Rad, Ellie, Mort, Matthew, Dodd, Kayleigh M., Tee, Andrew ORCID:, McDyer, Fionnuala, Moore, Stephen, Cooper, David Neil ORCID: and Upadhyaya, Meena 2015. Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours. Human Genomics 9 (1) , 3. 10.1186/s40246-015-0025-3

Thomas, Laura ORCID:, Richards, Mark ORCID:, Mort, Matthew Edwin, Dunlop, Elaine A. ORCID:, Cooper, David Neil ORCID: and Upadhyaya, Meena 2012. Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene. Human Mutation 33 (12) , pp. 1687-1696. 10.1002/humu.22162

Thomas, Laura ORCID:, Mautner, Victor-Felix, Cooper, David Neil ORCID: and Upadhyaya, Meena 2012. Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1. Human Genomics 6 , 18. 10.1186/1479-7364-6-18

Upadhyaya, Meena, Spurlock, Gillian, Thomas, Laura ORCID:, Thomas, Nicholas Stuart Tudor, Richards, Mark ORCID:, Mautner, Viktor-Felix, Cooper, David Neil ORCID:, Guha, Abhijit and Yan, Jim 2012. Microarray-based copy number analysis of neurofibromatosis type-1 (NF1)-associated malignant peripheral nerve sheath tumors reveals a role for Rho-GTPase pathway genes in NF1 tumorigenesis. Human Mutation 33 (4) , pp. 763-776. 10.1002/humu.22044

Thomas, Laura ORCID:, Spurlock, Gillian, Eudall, Claire, Thomas, Nicholas Stuart Tudor, Mort, Matthew Edwin, Hamby, Stephen E., Chuzhanova, Nadia, Brems, Hilde, Legius, Eric, Cooper, David Neil ORCID: and Upadhyaya, Meena 2012. Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas. European Journal of Human Genetics 20 (4) , pp. 411-419. 10.1038/ejhg.2011.207

Laycock-Van spyk, Sebastian, Jim, H. P., Thomas, Laura ORCID:, Spurlock, Gillian, Fares, L., Palmer-Smith, S., Kini, U., Saggar, A., Patton, M., Mautner, V., Pilz, Daniela T. and Upadhyaya, Meena 2011. Identification of five novel SPRED1 germline mutations in Legius syndrome [Letter]. Clinical Genetics 80 (1) , pp. 93-96. 10.1111/j.1399-0004.2010.01618.x

Thomas, Laura ORCID: 2011. Genetic, epigenetic and functional analysis of tumorigenesis in neurofibromatosis type 1 (NF1). PhD Thesis, Cardiff University.

Thomas, Laura ORCID:, Kluwe, Lan, Chuzhanova, Nadia, Mautner, Victor and Upadhyaya, Meena 2010. Analysis of NF1 somatic mutations in cutaneous neurofibromas from patients with high tumor burden. Neurogenetics 11 (4) , pp. 391-400. 10.1007/s10048-010-0240-y

This list was generated on Fri Apr 19 04:51:25 2024 BST.