Professor Julian Sampson

2023

• Møller, P. et al. 2023. Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement. Hereditary Cancer in Clinical Practice 21(1), article number: 19. (10.1186/s13053-023-00263-3)
• 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)
• Sherwood, K. et al. 2023. Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair. Nature Communications 14, article number: 3636. (10.1038/s41467-023-39248-0)
• Dominguez-Valentin, M. et al. 2023. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database. EClinicalMedicine 58, article number: 101909. (10.1016/j.eclinm.2023.101909)

2022

• Møller, P. et al. 2022. Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium. Hereditary Cancer in Clinical Practice 20, article number: 36. (10.1186/s13053-022-00241-1)
• 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)
• Palles, C. et al. 2022. Germline MBD4 deficiency causes a multi-tumor predisposition syndrome. American Journal of Human Genetics 109(5), pp. 953-960. (10.1016/j.ajhg.2022.03.018)
• Dominguez-Valentin, M., Sampson, J. R., Seppälä, T. T. and Møller, P. 2022. Response to Chambuso et al. Genetics in Medicine 24(5), article number: 1151. (10.1016/j.gim.2022.01.005)
• Ragoussis, V. et al. 2022. Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation. Journal of Medical Genetics 59(4), pp. 366-369. (10.1136/jmedgenet-2020-107528)

2021

• Northrup, H. et al. 2021. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatric Neurology 123, pp. 50-66. (10.1016/j.pediatrneurol.2021.07.011)
• Dominguez-Valentin, M. et al. 2021. No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2: a prospective Lynch syndrome database study. Journal of Clinical Medicine 10(13), article number: 2856. (10.3390/jcm10132856)
• Seppälä, T. T. et al. 2021. European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender. British Journal of Surgery 108(5), pp. 484-498. (10.1002/bjs.11902)
• Seppälä, T. T. et al. 2021. Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. European Journal of Cancer 148, pp. 124-133. (10.1016/j.ejca.2021.02.022)
• Dominguez-Valentin, M. et al. 2021. Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. Genetics in Medicine 23, pp. 705-712. (10.1038/s41436-020-01029-1)
• Klöckner, C. et al. 2021. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genetics in Medicine 23, pp. 653-660. (10.1038/s41436-020-01020-w)
• Ahadova, A. et al. 2021. The "unnatural" history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance. International Journal of Cancer 148(4), pp. 800-811. (10.1002/ijc.33224)
• Prentzell, M. T. et al. 2021. G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling. Cell 184(3), pp. P655-674.E27. (10.1016/j.cell.2020.12.024)
• Thomas, L. E. et al. 2021. Duodenal adenomas and cancer in MUTYH-associated polyposis: an international cohort study. Gastroenterology 160(3), pp. 952-954. (10.1053/j.gastro.2020.10.038)
• Seppälä, T. T., Dominguez-Valentin, M., Sampson, J. R. and Møller, P. 2021. Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD). Familial Cancer 20, pp. 35-39. (10.1007/s10689-020-00193-2)
• Dominguez-Valentin, M. et al. 2021. Analysis in the prospective Lynch syndrome database identifies sarcoma as part of the Lynch syndrome tumor spectrum. International Journal of Cancer 148(2), pp. 512-513. (10.1002/ijc.33214)

2020

• Dominguez-Valentin, M. et al. 2020. Risk-reducing gynecological surgery in Lynch syndrome: results of an international survey from the Prospective Lynch Syndrome Database. Journal of Clinical Medicine 9(7), article number: 2290. (10.3390/jcm9072290)
• Dominguez-Valentin, M. et al. 2020. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database. Genetics in Medicine 22, pp. 15-25. (10.1038/s41436-019-0596-9)
• 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)

2019

• Annear, N. M. P. et al. 2019. Tuberous Sclerosis Complex (TSC): expert recommendations for provision of coordinated care. Frontiers in Neurology 10, article number: 1116. (10.3389/fneur.2019.01116)
• Dominguez-Valentin, M. et al. 2019. Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report. Hereditary Cancer in Clinical Practice 17, pp. -., article number: 28. (10.1186/s13053-019-0127-3)
• Jones, A. T., Yang, J., Narov, K., Henske, E. P., Sampson, J. R. and Shen, M. H. 2019. Allosteric and ATP-competitive inhibitors of mTOR effectively suppress tumor progression-associated epithelial-mesenchymal transition in the kidneys of Tsc2+/− Mice. Neoplasia 21(8), pp. 731-739. (10.1016/j.neo.2019.05.003)
• Hurt, C. et al. 2019. Feasibility and economic assessment of chromocolonoscopy for detection of proximal serrated neoplasia within a population-based colorectal cancer screening programme (CONSCOP): an open-label, randomised controlled non-inferiority trial. Lancet Gastroenterology and Hepatology 4(5), pp. 364-375. (10.1016/S2468-1253(19)30035-4)
• Gorman, K. M. et al. 2019. Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia. American Journal of Human Genetics 104(5), pp. 948-956. (10.1016/j.ajhg.2019.03.005)
• Cleaver, R. et al. 2019. Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature. American Journal of Medical Genetics Part A 179(3), pp. 344-349. (10.1002/ajmg.a.61024)
• Amin, S. et al. 2019. The UK guidelines for management and surveillance of Tuberous Sclerosis Complex. QJM: An International Journal of Medicine 112(3), pp. 171-182. (10.1093/qjmed/hcy215)
• Seppälä, T. T. et al. 2019. Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report. Hereditary Cancer in Clinical Practice 17, article number: 8. (10.1186/s13053-019-0106-8)
• Jones, A. T., Narov, K., Yang, J., Sampson, J. R. and Shen, M. H. 2019. Efficacy of dual inhibition of glycolysis and glutaminolysis for therapy of renal lesions in Tsc2+/− Mice1. NEOPLASIA 21(2), pp. 230-238. (10.1016/j.neo.2018.12.003)
• Short, E. and Sampson, J. 2019. The role of inherited genetic variants in colorectal polyposis syndromes. Advances in Genetics 103, pp. 183-217. (10.1016/bs.adgen.2018.11.002)

2018

• Johnson, C. E. et al. 2018. Loss of tuberous sclerosis complex 2 sensitizes tumors to nelfinavir−bortezomib therapy to intensify endoplasmic reticulum stress-induced cell death. Oncogene 37, pp. 5913-5925. (10.1038/s41388-018-0381-2)
• 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)
• Evans, D. G. et al. 2018. Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer?. Genetics in Medicine 21(8), pp. 1878-1879. (10.1038/s41436-018-0401-1)
• Møller, P. et al. 2018. Cancer risk and survival in path _ MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database. Gut 67(7), pp. 1306-1316. (10.1136/gutjnl-2017-314057)
• 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)
• Seppälä, T. et al. 2017. Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report. Hereditary Cancer in Clinical Practice 15, article number: 18. (10.1186/s13053-017-0078-5)
• Shen, M., Samsel, P., Shen, L. L., Narov, K., Yang, J. and Sampson, J. 2017. Assessment of response of kidney tumours to rapamycin and atorvastatin in Tsc1+/- mice. Translational Oncology 10(5), pp. 793-799. (10.1016/j.tranon.2017.07.009)
• Møller, P. et al. 2017. Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database. Gut 66(9), pp. 1657-1664. (10.1136/gutjnl-2016-311403)
• Narov, K., Yang, J., Samsel, P., Jones, A., Sampson, J. R. and Shen, M. H. 2017. The dual PI3K/mTOR inhibitor GSK2126458 is effective for treating solid renal tumours in Tsc2+/- mice through suppression of cell proliferation and induction of apoptosis. Oncotarget, article number: 17215. (10.18632/oncotarget.17215)
• McRae, J. F. et al. 2017. Prevalence and architecture of de novo mutations in developmental disorders. Nature 542, pp. 433-438. (10.1038/nature21062)
• Møller, P. et al. 2017. Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database. Gut 66(3), pp. 464-472. (10.1136/gutjnl-2015-309675)
• Yang, J. et al. 2017. Combination of everolimus with sorafenib for solid renal tumours in Tsc2+/- mice is superior to everolimus alone. Neoplasia 19(2), pp. 112-120. (10.1016/j.neo.2016.12.008)

2016

• Kingswood, C. et al. 2016. The clinical profile of tuberous sclerosis complex (TSC) in the United Kingdom: A retrospective cohort study in the Clinical Practice Research Datalink (CPRD). European Journal of Paediatric Neurology 20(2), pp. 296-308. (10.1016/j.ejpn.2015.11.011)
• Kingswood, J. C. et al. 2016. Review of the tuberous sclerosis renal guidelines from the 2012 consensus conference: current data and future study. Nephron Clinical Practice 134(2), pp. 51-58. (10.1159/000448293)
• Randell, E. et al. 2016. The use of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON): study protocol for a randomised controlled trial. Trials 17, article number: 398. (10.1186/s13063-016-1446-6)
• Kingswood, J. C. et al. 2016. The economic burden of tuberous sclerosis complex in the UK: A retrospective cohort study in the Clinical Practice Research Datalink. Journal of Medical Economics 19(11), pp. 1087-1098. (10.1080/13696998.2016.1199432)
• Iacovazzo, D. et al. 2016. Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathologica Communications 4, article number: 56. (10.1186/s40478-016-0328-1)
• Henske, E. P., Jóźwiak, S., Kingswood, J. C., Sampson, J. R. and Thiele, E. A. 2016. Tuberous sclerosis complex. Nature Reviews Disease Primers 2, article number: 16035. (10.1038/nrdp.2016.35)
• Rodd, C. et al. 2016. Somatic GPR101 duplication causing X-Linked acrogigantism (XLAG)- diagnosis and management. Journal of Clinical Endocrinology & Metabolism 101(5), pp. 1927-1930. (10.1210/jc.2015-4366)
• Tee, A., Sampson, J. R., Pal, D. K. and Bateman, J. M. 2016. The role of mTOR signalling in neurogenesis, insights from tuberous sclerosis complex. Seminars in Cell and Developmental Biology 52, pp. 12-20. (10.1016/j.semcdb.2016.01.040)
• Rashid, M. et al. 2016. Adenoma development in familial adenomatous polyposis andMUTYH-associated polyposis: somatic landscape and driver genes. Journal of Pathology 238(1), pp. 98-108. (10.1002/path.4643)

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)
• Wong, H. T., McCartney, D., Lewis, J. C., Sampson, J. R., Howe, C. J. and de Vries, P. J. 2015. Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins. Journal of Medical Genetics 52(12), pp. 815-822. (10.1136/jmedgenet-2015-103154)
• Sampson, J. R. and Saxena, A. 2015. Epilepsy in tuberous sclerosis: phenotypes, mechanisms, and treatments. Seminars in Neurology 35(3), pp. 269-276. (10.1055/s-0035-1552616)
• Dodd, K. M., Yang, J., Shen, M. H., Sampson, J. R. and Tee, A. R. 2015. mTORC1 drives HIF-1α and VEGF-A signalling via multiple mechanisms involving 4E-BP1, S6K1 and STAT3. Oncogene 34(17), pp. 2239-2250. (10.1038/onc.2014.164)
• Kwiatkowski, D. J. et al. 2015. Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. European Journal of Human Genetics 23(12), pp. 1665-1672. (10.1038/ejhg.2015.47)
• Yang, J. et al. 2015. Renal tumours in a Tsc2+/- mouse model do not show feedback inhibition of Akt and are effectively prevented by rapamycin. Oncogene 34, pp. 922-931. (10.1038/onc.2014.17)
• Kmoch, S. et al. 2015. Mutations in ​PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. Nature Communications 6, article number: 5614. (10.1038/ncomms6614)

2014

• Saxena, A. and Sampson, J. 2014. Phenotypes associated with inherited and developmental somatic mutations in genes encoding mTOR pathway components. Seminars in Cell and Developmental Biology 36, pp. 140-146. (10.1016/j.semcdb.2014.09.018)
• Johnson, C. et al. 2014. Endoplasmic reticulum stress and cell death in mTORC1-overactive cells is induced by nelfinavir and enhanced by chloroquine. Molecular Oncology 9(3), pp. 675-688. (10.1016/j.molonc.2014.11.005)
• Siroky, B. J. et al. 2014. Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy. American Journal of Physiology-Renal Physiology 307(5), pp. F560-F570. (10.1152/ajprenal.00569.2013)
• Maughan, T. et al. 2014. A feasibility study testing four hypotheses with phase II outcomes in advanced colorectal cancer (MRC FOCUS3): A model for randomised controlled trials in the era of personalised medicine?. British Journal of Cancer 110, pp. 2178-2186. (10.1038/bjc.2014.182)

2013

• Roger, L., Jones, R. E., Heppel, N., Williams, G. T., Sampson, J. R. and Baird, D. M. 2013. Extensive telomere erosion in the initiation of colorectal adenomas and its association with chromosomal instability. Journal of the National Cancer Institute 105(16), pp. 1202-1211. (10.1093/jnci/djt191)
• Vasen, H. F. A. et al. 2013. Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut 62(6), pp. 812-823. (10.1136/gutjnl-2012-304356)
• Yang, J., Kalogerou, M., Gallacher, J., Sampson, J. and Shen, M. 2013. Renal tumours in a Tsc1+/- mouse model show epigenetic suppression of organic cation transporters Slc22a1, Slc22a2 and Slc22a3, and do not respond to metformin. European Journal of Cancer 49(6), pp. 1479-1490. (10.1016/j.ejca.2012.10.027)

2012

• Kalogerou, M. et al. 2012. T2 weighted MRI for assessing renal lesions in transgenic mouse models of tuberous sclerosis. European Journal of Radiology 81(9), pp. 2069-2074. (10.1016/j.ejrad.2011.06.054)
• Gribouval, O. et al. 2012. Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Human Mutation 33(2), pp. 316-326. (10.1002/humu.21661)

2011

• Wong, H. T., McCartney, D. L., Lewis, J., Sampson, J. R., Howe, C. J. and De Vries, P. J. 2011. Individuals with TSC1 and TSC2 mutations show distinct patterns of intellectual abilities [Oral presentation abstract]. Journal of Intellectual Disability Research 55(10), pp. 955-955. (10.1111/j.1365-2788.2011.01474_2.x)
• Nieuwenhuis, M. H. et al. 2011. Evidence for accelerated colorectal adenoma-carcinoma progression in MUTYH-associated polyposis?. Gut 61(5), pp. 734-738. (10.1136/gut.2010.229104)
• Davies, D. M. et al. 2011. Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial. Clinical Cancer Research 17(12), pp. 4071-4081. (10.1158/1078-0432.CCR-11-0445)
• Hoogeveen-Westerveld, M. et al. 2011. Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex. Human Mutation 32(4), pp. 424-435. (10.1002/humu.21451)
• Sampson, J. R. 2011. Genomics, individuals and public health: a view from clinical genetics: Comment on Dr R.L. Zimmern's Genomics and individuals in public health practice: are we luddites or can we meet the challenge?. Journal of Public Health 33(4), pp. 485-286. (10.1093/pubmed/fdr083)
• Yates, J. R. W. et al. 2011. The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management. Archives of Disease in Childhood 96(11), pp. 1020-1025. (10.1136/adc.2011.211995)
• Dunlop, E. A. et al. 2011. Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence. European Journal of Human Genetics 19(7), pp. 789-795. (10.1038/ejhg.2011.38)
• Winney, B. et al. 2011. People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population. European Journal of Human Genetics 20(2), pp. 203-210. (10.1038/ejhg.2011.127)

2010

• Out, A. A. et al. 2010. Leiden open variation database of the MUTYH gene. Human Mutation 31(11), pp. 1205-1215. (10.1002/humu.21343)
• Nielsen, M. et al. 2010. Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients. Journal of the National Cancer Institute 102(22), pp. 1724-1730. (10.1093/jnci/djq370)
• Beggs, A. D. et al. 2010. Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 59(7), pp. 975-986. (10.1136/gut.2009.198499)
• Davies, D. M. and Sampson, J. R. 2010. Small-molecule signal-transduction inhibitors: targeted therapeutic agents for single-gene disorders. Journal of Medical Genetics 47(3), pp. 145-149. (10.1136/jmg.2008.064113)
• Grindedal, E. M. et al. 2010. Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. Journal of Medical Genetics 47(2), pp. 99-102. (10.1136/jmg.2009.068130)

2009

• Dallosso, A. R. et al. 2009. The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations. Human Mutation 30(10), pp. 1412-1418. (10.1002/humu.21089)
• Jones, N. et al. 2009. Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH. Gastroenterology 137(2), pp. 489-494. (10.1053/j.gastro.2009.04.047)
• Nielsen, M. et al. 2009. Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis. Gastroenterology 136(2), pp. 471-476. (10.1053/j.gastro.2008.10.056)
• Vasen, H. F. A. et al. 2009. Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Familial Cancer 9(2), pp. 109-115. (10.1007/s10689-009-9291-3)
• Tee, A., Sampson, J. R. and Cheadle, J. P. 2009. Tuberous sclerosis complex. In: Schwab, M. ed. Encyclopedia of Cancer. 2nd ed. Springer
• Vogt, S. et al. 2009. Expanded Extracolonic Tumor Spectrum in MUTYH-Associated Polyposis. Gastroenterology 137(6), pp. 1976-1985. (10.1053/j.gastro.2009.08.052)
• Mozaffari, M. et al. 2009. Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex. BMC Medical Genetics 10, pp. 1-12., article number: 88. (10.1186/1471-2350-10-88)

2008

• Sampson, J. R. and Cheadle, J. P. 2008. Screening methods and sequences relating thereto. US7393940B2 [Patent].
• Gaspar, C. et al. 2008. Cross-species comparison of human and mouse intestinal polyps reveals conserved mechanisms in adenomatous polyposis coli (APC)-driven tumorigenesis. American Journal of Pathology 172(5), pp. 1363-1380. (10.2353/ajpath.2008.070851)
• Azzopardi, D. L. et al. 2008. Multiple rare nonsynonymous variants in the 'adenomatous polyposis coli' gene predispose to colorectal adenomas. Cancer Research 68(2), pp. 358-363. (10.1158/0008-5472.CAN-07-5733)
• Davies, D. M. et al. 2008. Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis [Letter]. New England Journal of Medicine 358(2), pp. 200-203. (10.1056/NEJMc072500)
• Vasen, H. F. A. et al. 2008. Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 57(5), pp. 704-713. (10.1136/gut.2007.136127)
• Dallosso, A. R. et al. 2008. Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3. Gut 57(9), pp. 1252-1255. (10.1136/gut.2007.145748)
• Consugar, M. B. et al. 2008. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Kidney International 74(11), pp. 1468-1479. (10.1038/ki.2008.485)

2007

• Vasen, H. F. A. et al. 2007. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). Journal of Medical Genetics 44(6), pp. 353-362. (10.1136/jmg.2007.048991)
• Cheadle, J. P. and Sampson, J. R. 2007. MUTYH-associated polyposis - From defect in base excision repair to clinical genetic testing. DNA Repair 6(3), pp. 274-279. (10.1016/j.dnarep.2006.11.001)
• Dolwani, S. et al. 2007. Analysis of inherited MYH (MUTYH) mutations in British Asian patients with colorectal cancer [Letter]. Gut 56(4), pp. 593. (10.1136/gut.2006.094532)

2006

• Wilson, C. H. et al. 2006. Tsc1 Haploinsufficiency without Mammalian Target of Rapamycin Activation Is Sufficient for Renal Cyst Formation in Tsc1+/- Mice. Cancer Research 66(16), pp. 7934-8. (10.1158/0008-5472.CAN-06-1740)

2005

• Wilson, C. H. et al. 2005. Induction of renal tumorigenesis with elevated levels of somatic loss of heterozygosity in Tsc1+/- mice on a Blm-deficient background. Cancer Research 65(22), pp. 10179-10182. (10.1158/0008-5472.CAN-05-2688)
• Brain, K. E. et al. 2005. An exploratory comparison of genetic counselling protocols for HNPCC predictive testing. Clinical Genetics 68(3), pp. 255-261. (10.1111/j.1399-0004.2005.00491.x)
• Colley, J. et al. 2005. Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic NavigatorTM software. Human Mutation 26(2), pp. 165. (10.1002/humu.9354)
• Evans, J. C. et al. 2005. Early onset seizures and Rett-like features associated with mutations in CDKL5. European Journal of Human Genetics 13(10), pp. 1113-1120. (10.1038/sj.ejhg.5201451)
• Wilson, C. H. et al. 2005. A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma. Human Molecular Genetics 14(13), pp. 1839-1850. (10.1093/hmg/ddi190)
• Sampson, J. R., Jones, S., Dolwani, S. and Cheadle, J. P. 2005. MutYH (MYH) and colorectal cancer. Biochemical Society Transactions 33(4), pp. 679-683. (10.1042/BST0330679)
• Bai, H., Jones, S., Guan, X., Wilson, T. M., Sampson, J. R., Cheadle, J. P. and Lu, A. 2005. Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis. Nucleic Acids Research 33(2), pp. 597-604. (10.1093/nar/gki209)
• Archer, H. L. et al. 2005. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Journal of Medical Genetics 43(5), pp. 451-456. (10.1136/jmg.2005.033464)

2004

• Fleischmann, C., Peto, J., Cheadle, J. P., Shah, B., Sampson, J. R. and Houlston, R. S. 2004. Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. International Journal of Cancer 109(4), pp. 554-558. (10.1002/ijc.20020)
• Jones, S., Lambert, S., Williams, G. T., Best, J. M., Sampson, J. R. and Cheadle, J. P. 2004. Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas. British Journal of Cancer 90(8), pp. 1591-1593. (10.1038/sj.bjc.6601747)
• Al-Tassan, N. et al. 2004. Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma. Human Genetics 114(2), pp. 207-210. (10.1007/s00439-003-1033-2)

2003

• Kwiatkowski, D., Reeve, M. P., Cheadle, J. P. and Sampson, J. R. 2003. Molecular genetics. In: Curatolo, P. ed. Tuberous Sclerosis Complex: From Basic Science to Clinical Phenotypes. International Review of Child Neurology (Mac Keith Press) Cambridge: Cambridge University Press, pp. 228-263.
• Cheadle, J. P. and Sampson, J. R. 2003. Exposing the MYtH about base excision repair and human inherited disease. Human Molecular Genetics 12(s2), pp. R159-R165. (10.1093/hmg/ddg259)
• Sampson, J. R. et al. 2003. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH. The Lancet 362(9377), pp. 39-41. (10.1016/S0140-6736(03)13805-6)
• Cheadle, J. P., Dolwani, S. and Sampson, J. R. 2003. Inherited defects in the DNA glycosylase MYH cause multiple colorectal adenoma and carcinoma [Letter]. Carcinogenesis 24(7), pp. 1281-1282. (10.1093/carcin/bgg068)
• Brain, K. E., Soldan, J., Sampson, J. R. and Gray, J. 2003. Genetic counselling protocols for hereditary non-polyposis colorectal cancer: a survey of UK regional genetics centres.. Clinical Genetics 63(3), pp. 198-204. (10.1034/j.1399-0004.2003.00039.x)
• Emmerson, P., Maynard, J. H., Jones, S., Butler, R., Sampson, J. R. and Cheadle, J. P. 2003. Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes. Human Mutation 21(2), pp. 112-115. (10.1002/humu.10159)

2002

• Jones, S. et al. 2002. Biallelic germline mutations in MYH predispose to multiple colorectal ademona and somatic G:C to T:A mutations. Human Molecular Genetics 11(23), pp. 2961-2967. (10.1093/hmg/11.23.2961)
• Al-Tassan, N. et al. 2002. Inherited variants of MYH associated with somatic G:C to T:A mutations in colorectal tumors. Nature Genetics 30(2), pp. 227-32. (10.1038/ng828)
• Cheadle, J. P., Krawczak, M., Thomas, M. W., Hodges, A. K., Al-Tassan, N., Fleming, N. and Sampson, J. R. 2002. Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours. Cancer Research 62, pp. 363-366.
• Cheadle, J. P., Krawczak, M., Thomas, M. W., Hodges, A. K., Al-Tassan, N., Fleming, N. and Sampson, J. R. 2002. Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours. Cancer Research 62(2), pp. 363-366.
• Antonarakis, E. S., Sampson, J. R. and Cheadle, J. P. 2002. Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2. Journal of Biochemical and Biophysical Methods 51(2), pp. 161-164. (10.1016/S0165-022X(02)00011-8)

2001

• Hodges, A. K. et al. 2001. Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin. Human Molecular Genetics 10(25), pp. 2899-9205. (10.1093/hmg/10.25.2899)
• Parry, L. et al. 2001. Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas. British Journal of Cancer 85, pp. 1226-1230. (10.1054/bjoc.2001.2072)
• Soucek, T., Rosner, M., Miloloza, A., Kubista, M., Cheadle, J. P., Sampson, J. R. and Hengstschläger, M. 2001. Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression. Oncogene 20(35), pp. 4904-4909.
• Jones, A. C., Sampson, J. R. and Cheadle, J. P. 2001. Low level mosaicism detectable by DHPLC but not by direct sequencing. Human Mutation 17(3), pp. 233-234. (10.1002/humu.8)
• Fleming, N., Maynard, J. H., Tzitzis, L., Sampson, J. R. and Cheadle, J. P. 2001. LD-PCR coupled to long-read direct sequencing: an approach for mutation detection in genes with compact genomic structures. Journal of Biochemical and Biophysical Methods 47(1-2), pp. 131-136. (10.1016/S0165-022X(00)00159-7)

2000

• Benvenuto, G. et al. 2000. The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. Oncogene 19(54), pp. 6306-6316. (10.1038/sj.onc.1204009)
• Cheadle, J. P., Dobbie, L., Idziaszczyk, S., Hodges, A. K., Smith, A. J., Sampson, J. R. and Young, J. 2000. Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus. Mammalian Genome 11(12), pp. 1135-1138. (10.1007/s003350010203)
• Lamlum, H. et al. 2000. Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q. Human Molecular Genetics 9(15), pp. 2215-2221.
• Brain, K. E. et al. 2000. Randomized trial of a specialist genetic assessment service for familial breast cancer. Journal of the National Cancer Institute 92(16), pp. 1345-1351. (10.1093/jnci/92.16.1345)
• Cheadle, J. P., Reeve, M. P., Sampson, J. R. and Kwiatkowski, D. J. 2000. Molecular genetic advances in tuberous sclerosis. Human Genetics 107(2), pp. 97-114. (10.1007/s004390000348)
• Jones, A. C., Sampson, J. R., Hoogendoorn, B., Cohen, D. and Cheadle, J. P. 2000. Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis. Human Genetics 106(6), pp. 663-668. (10.1007/s004390000316)
• Gray, J. et al. 2000. A model protocol evaluating the introduction of genetic assessment for women with a family history of breast cancer. Journal of Medical Genetics 37(3), pp. 192-196. (10.1136/jmg.37.3.192)
• Parry, L., Maynard, J. H., Patel, A., Hodges, A., von Deimling, A., Sampson, J. R. and Cheadle, J. P. 2000. Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours. Human Genetics 107(4), pp. 350-356. (10.1007/s004390000390)
• Cheadle, J. P. et al. 2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Human Molecular Genetics 9(7), pp. 1119-1129. (10.1093/hmg/9.7.1119)

1999

• Jones, A. C. et al. 1999. Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis. American Journal of Human Genetics 64(5), pp. 1305-1315. (10.1086/302381)

1998

• van Slegtenhorst, M. et al. 1998. Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Human Molecular Genetics 7(6), pp. 1053-1057. (10.1093/hmg/7.6.1053)

1997

• Jones, A. C. et al. 1997. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Human Molecular Genetics 6(12), pp. 2155-2161. (10.1093/hmg/6.12.2155)
• Sampson, J. R. et al. 1997. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. American Journal of Human Genetics 61(4), pp. 843-851. (10.1086/514888)
• Maheshwar, M. M., Cheadle, J. P., Jones, A. C., Myring, J., Fryer, A. E., Harris, P. C. and Sampson, J. R. 1997. The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. Human Molecular Genetics 6(11), pp. 1991-1996. (10.1093/hmg/6.11.1991)
• Kobayashi, T., Urakami, S., Cheadle, J. P., Aspinwall, R., Harris, P., Sampson, J. R. and Hino, O. 1997. Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog. Mammalian Genome 8(8), pp. 554-558. (10.1007/s003359900502)
• van Slegtenhorst, M. et al. 1997. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 277(5327), pp. 805-808. (10.1126/science.277.5327.805)
• Aspinwall, R. et al. 1997. Cloning and characterization of a functional human homolog of Escherichia coli endonuclease  III. Proceedings of the National Academy of Sciences of the United States of America 94(1), pp. 109-114.

1996

• Maheshwar, M. M., Sandford, R., Nellist, M., Cheadle, J. P., Sgotto, B., Vaudin, M. and Sampson, J. R. 1996. Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish. Human Molecular Genetics 5(1), pp. 131-137. (10.1093/hmg/5.1.131)

1993

• Nellist, M. et al. 1993. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75(7), pp. 1305-1315. (10.1016/0092-8674(93)90618-Z)