Dr Laura Thomas

2023

• West, H. D. et al. 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, article number: 4899372. (10.1155/2023/4899372)

2022

• Robinson, P. S. et al. 2022. Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells. Nature Communications 13(1), article number: 3949. (10.1038/s41467-022-31341-0)

2020

• Short, E. et al. 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)

2018

• Hurley, J. J. et al. 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, C., Thomas, L. E., Sampson, J. R., Lewis, J., O'Callaghan, F., Yates, J. R. and Bolton, P. 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)

2017

• Thomas, L. E. et al. 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)

2015

• Short, E., Thomas, L. E., Hurley, J., Jose, S. and Sampson, J. R. 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, E., Dodd, K. M., Thomas, L. E., Upadhyaya, M. and Tee, A. 2015. STAT3 and HIF1 signaling drives oncogenic cellular phenotypes in malignant peripheral nerve sheath tumors. Molecular Cancer Research 13(7), pp. 1149. (10.1158/1541-7786.MCR-14-0182)
• Thomas, L. E. et al. 2015. Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours. Human Genomics 9(1), article number: 3. (10.1186/s40246-015-0025-3)

2012

• Thomas, L., Richards, M., Mort, M. E., Dunlop, E. A., Cooper, D. N. and Upadhyaya, M. 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, L., Mautner, V., Cooper, D. N. and Upadhyaya, M. 2012. Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1. Human Genomics 6, article number: 18. (10.1186/1479-7364-6-18)
• Upadhyaya, M. et al. 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, L. et al. 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)

2011

• Laycock-Van spyk, S. et al. 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, L. 2011. Genetic, epigenetic and functional analysis of tumorigenesis in neurofibromatosis type 1 (NF1).. PhD Thesis, Cardiff University.

2010

• Thomas, L., Kluwe, L., Chuzhanova, N., Mautner, V. and Upadhyaya, M. 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)