Julie Maynard

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

• Madi, A. et al. 2018. Common and rare DPYD variants are predictive for 5FU/capecitabine (5FU) toxicity: The MRC COIN and COIN-B trials. Presented at: 43rd ESMO Congress 2018, Munich, Germany, 19-23 October 2018, Vol. 29. Vol. Supple. Oxford University Press pp. VIII22., (10.1093/annonc/mdy269.072)
• Madi, A. et al. 2018. Pharmacogenetic analyses of 2,183 patients with advanced colorectal cancer; Potential role for common dihydropyrimidine dehydrogenase variants in toxicity to chemotherapy.. European Journal of Cancer 102, pp. 31-39. (10.1016/j.ejca.2018.07.009)

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)

2016

• 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)

2008

• 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)

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)
• 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)

2004

• 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

• 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)
• Gill, H. et al. 2003. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. Journal of Medical Genetics 40(5), pp. 380-384. (10.1136/jmg.40.5.380)
• 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)

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)
• 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

• 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)
• 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)

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

• Upadhyaya, M. et al. 1998. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Human Genetics 102(5), pp. 591-597. (10.1007/s004390050746)

1997

• Upadhyaya, M., Osborn, M. J., Maynard, J. H., Kim, M. R., Tamanoi, F. and Cooper, D. N. 1997. Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. Human Genetics -Berlin- 99(1), pp. 88-92. (10.1007/s004390050317)