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Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.
Harrison WJ, Andrici J, Maclean F, Madadi-Ghahan R, Farzin M, Sioson L, Toon CW, Clarkson A, Watson N, Pickett J, Field M, Crook A, Tucker K, Goodwin A, Anderson L, Srinivasan B, Grossmann P, Martinek P, Ondič O, Hes O, Trpkov K, Clifton-Bligh RJ, Dwight T, Gill AJ. Harrison WJ, et al. Among authors: field m. Am J Surg Pathol. 2016 May;40(5):599-607. doi: 10.1097/PAS.0000000000000573. Am J Surg Pathol. 2016. PMID: 26574848 Free PMC article.
NRASQ61R Mutation-specific Immunohistochemistry Also Identifies the HRASQ61R Mutation in Medullary Thyroid Cancer and May Have a Role in Triaging Genetic Testing for MEN2.
Reagh J, Bullock M, Andrici J, Turchini J, Sioson L, Clarkson A, Watson N, Sheen A, Lim G, Delbridge L, Sidhu S, Sywak M, Aniss A, Shepherd P, Ng D, Oei P, Field M, Learoyd D, Robinson BG, Clifton-Bligh RJ, Gill AJ. Reagh J, et al. Among authors: field m. Am J Surg Pathol. 2017 Jan;41(1):75-81. doi: 10.1097/PAS.0000000000000740. Am J Surg Pathol. 2017. PMID: 27635947
Bayesian approach to determining penetrance of pathogenic SDH variants.
Benn DE, Zhu Y, Andrews KA, Wilding M, Duncan EL, Dwight T, Tothill RW, Burgess J, Crook A, Gill AJ, Hicks RJ, Kim E, Luxford C, Marfan H, Richardson AL, Robinson B, Schlosberg A, Susman R, Tacon L, Trainer A, Tucker K, Maher ER, Field M, Clifton-Bligh RJ. Benn DE, et al. Among authors: field m. J Med Genet. 2018 Nov;55(11):729-734. doi: 10.1136/jmedgenet-2018-105427. Epub 2018 Sep 10. J Med Genet. 2018. PMID: 30201732 Free PMC article.
A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Pheochromocytoma and Paraganglioma.
Fuchs TL, Luxford C, Clarkson A, Sheen A, Sioson L, Elston M, Croxson MS, Dwight T, Benn DE, Tacon L, Field M, Ahadi MS, Chou A, Clifton-Bligh RJ, Gill AJ. Fuchs TL, et al. Among authors: field m. Am J Surg Pathol. 2023 Jan 1;47(1):25-36. doi: 10.1097/PAS.0000000000001945. Epub 2022 Aug 22. Am J Surg Pathol. 2023. PMID: 35993574 Free PMC article.
Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.
Inaba Y, Schwartz CE, Bui QM, Li X, Skinner C, Field M, Wotton T, Hagerman RJ, Francis D, Amor DJ, Hopper JL, Loesch DZ, Bretherton L, Slater HR, Godler DE. Inaba Y, et al. Among authors: field m. Clin Chem. 2014 Jul;60(7):963-73. doi: 10.1373/clinchem.2013.217331. Epub 2014 Apr 28. Clin Chem. 2014. PMID: 24778142
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
Tudini E, Davidson AL, Dressel U, Andrews L, Antill Y, Crook A, Field M, Gattas M, Harris R, Kirk J, Pachter N, Salmon L, Susman R, Townshend S, Trainer AH, Tucker KM, Mitchell G, James PA, Ward RL, Mar Fan H, Poplawski NK, Spurdle AB. Tudini E, et al. Among authors: field m. J Med Genet. 2021 Dec;58(12):853-858. doi: 10.1136/jmedgenet-2020-107140. Epub 2020 Nov 9. J Med Genet. 2021. PMID: 33168572
New insights into Brunner syndrome and potential for targeted therapy.
Palmer EE, Leffler M, Rogers C, Shaw M, Carroll R, Earl J, Cheung NW, Champion B, Hu H, Haas SA, Kalscheuer VM, Gecz J, Field M. Palmer EE, et al. Among authors: field m. Clin Genet. 2016 Jan;89(1):120-7. doi: 10.1111/cge.12589. Epub 2015 Apr 19. Clin Genet. 2016. PMID: 25807999
1,932 results