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Number of items: 16.

West, Hannah D. ORCID: https://orcid.org/0000-0002-6104-6534, 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: https://orcid.org/0000-0003-3143-6854, 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: https://orcid.org/0000-0002-2902-2348, Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, 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
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Robinson, Philip S., Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Abascal, Federico, Jung, Hyunchul, Harvey, Luke M. R., West, Hannah D. ORCID: https://orcid.org/0000-0002-6104-6534, Olafsson, Sigurgeir, Lee, Bernard C. H., Coorens, Tim H. H., Lee-Six, Henry, Butlin, Laura ORCID: https://orcid.org/0000-0003-2753-1883, 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: https://orcid.org/0000-0002-2902-2348 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
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Short, Emma, Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Davies, Alice, Bolton, Alice, Maynard, Julie, Giles, Peter ORCID: https://orcid.org/0000-0003-3143-6854, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Consoli, Claudia, Egner, Iris, Jundi, Hala and Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348 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
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Hurley, Joanna J., Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Walton, Sarah-Jane, Thomas-Gibson, Siwan, Haycock, Adam, Suzuki, Noriko, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Williams, Geraint ORCID: https://orcid.org/0000-0003-3768-9940, Morgan, Meleri, Clark, Susan K., Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348 and Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472 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
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Tye, Charlotte, Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, 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
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Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Hurley, Joanna J., Meuser, Elena, Jose, Sian, Ashelford, Kevin E. ORCID: https://orcid.org/0000-0003-3217-2811, Mort, Matthew ORCID: https://orcid.org/0000-0002-3986-0935, Idziaszczyk, Shelley, Maynard, Julie, Leon Brito, Helena, Harry, Manon, Walters, Angharad, Raja, Meera, Walton, Sarah-Jane, Dolwani, Sunil ORCID: https://orcid.org/0000-0002-3113-5472, Williams, Geraint T. ORCID: https://orcid.org/0000-0003-3768-9940, Morgan, Meleri, Moorghen, Morgan, Clark, Susan K. and Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348 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
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Short, Emma, Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Hurley, Joanna, Jose, Sian and Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 2015. Inherited predisposition to colorectal cancer: towards a more complete picture. Journal of Medical Genetics 52 , pp. 791-796. 10.1136/jmedgenet-2015-103298
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Rad, Ellie, Dodd, Kayleigh M., Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Upadhyaya, Meena and Tee, Andrew ORCID: https://orcid.org/0000-0002-5577-4631 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
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Thomas, Laura E. ORCID: https://orcid.org/0000-0002-8621-5285, Winston, Jincy, Rad, Ellie, Mort, Matthew, Dodd, Kayleigh M., Tee, Andrew ORCID: https://orcid.org/0000-0002-5577-4631, McDyer, Fionnuala, Moore, Stephen, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 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
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Thomas, Laura ORCID: https://orcid.org/0000-0002-8621-5285, Richards, Mark ORCID: https://orcid.org/0000-0002-2266-3329, Mort, Matthew Edwin, Dunlop, Elaine A. ORCID: https://orcid.org/0000-0002-9209-7561, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 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: https://orcid.org/0000-0002-8621-5285, Mautner, Victor-Felix, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 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: https://orcid.org/0000-0002-8621-5285, Thomas, Nicholas Stuart Tudor, Richards, Mark ORCID: https://orcid.org/0000-0002-2266-3329, Mautner, Viktor-Felix, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, 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: https://orcid.org/0000-0002-8621-5285, Spurlock, Gillian, Eudall, Claire, Thomas, Nicholas Stuart Tudor, Mort, Matthew Edwin, Hamby, Stephen E., Chuzhanova, Nadia, Brems, Hilde, Legius, Eric, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 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: https://orcid.org/0000-0002-8621-5285, 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: https://orcid.org/0000-0002-8621-5285 2011. Genetic, epigenetic and functional analysis of tumorigenesis in neurofibromatosis type 1 (NF1). PhD Thesis, Cardiff University.
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Thomas, Laura ORCID: https://orcid.org/0000-0002-8621-5285, 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 Nov 7 11:41:25 2025 GMT.


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