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595 results

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Page 1
Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility.
Casey RT, McLean MA, Madhu B, Challis BG, Ten Hoopen R, Roberts T, Clark GR, Pittfield D, Simpson HL, Bulusu VR, Allinson K, Happerfield L, Park SM, Marker A, Giger O, Maher ER, Gallagher FA. Casey RT, et al. Among authors: maher er. JCO Precis Oncol. 2018 Mar 29;2:1-12. doi: 10.1200/PO.17.00191. JCO Precis Oncol. 2018. PMID: 30949620 Free PMC article.
Germline FH mutations presenting with pheochromocytoma.
Clark GR, Sciacovelli M, Gaude E, Walsh DM, Kirby G, Simpson MA, Trembath RC, Berg JN, Woodward ER, Kinning E, Morrison PJ, Frezza C, Maher ER. Clark GR, et al. Among authors: maher er. J Clin Endocrinol Metab. 2014 Oct;99(10):E2046-50. doi: 10.1210/jc.2014-1659. Epub 2014 Jul 8. J Clin Endocrinol Metab. 2014. PMID: 25004247
Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.
Whitworth J, Skytte AB, Sunde L, Lim DH, Arends MJ, Happerfield L, Frayling IM, van Minkelen R, Woodward ER, Tischkowitz MD, Maher ER. Whitworth J, et al. Among authors: maher er. JAMA Oncol. 2016 Mar;2(3):373-9. doi: 10.1001/jamaoncol.2015.4771. JAMA Oncol. 2016. PMID: 26659639 Review.
SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.
Casey RT, Ascher DB, Rattenberry E, Izatt L, Andrews KA, Simpson HL, Challis B, Park SM, Bulusu VR, Lalloo F, Pires DEV, West H, Clark GR, Smith PS, Whitworth J, Papathomas TG, Taniere P, Savisaar R, Hurst LD, Woodward ER, Maher ER. Casey RT, et al. Among authors: maher er. Mol Genet Genomic Med. 2017 Mar 2;5(3):237-250. doi: 10.1002/mgg3.279. eCollection 2017 May. Mol Genet Genomic Med. 2017. PMID: 28546994 Free PMC article.
Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.
Casey RT, Warren AY, Martin JE, Challis BG, Rattenberry E, Whitworth J, Andrews KA, Roberts T, Clark GR, West H, Smith PS, Docquier FM, Rodger F, Murray V, Simpson HL, Wallis Y, Giger O, Tran M, Tomkins S, Stewart GD, Park SM, Woodward ER, Maher ER. Casey RT, et al. Among authors: maher er. J Clin Endocrinol Metab. 2017 Nov 1;102(11):4013-4022. doi: 10.1210/jc.2017-00562. J Clin Endocrinol Metab. 2017. PMID: 28973655 Free PMC article. Review.
Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.
Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER. Andrews KA, et al. Among authors: maher er. J Med Genet. 2018 Jun;55(6):384-394. doi: 10.1136/jmedgenet-2017-105127. Epub 2018 Jan 31. J Med Genet. 2018. PMID: 29386252 Free PMC article.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium; Tischkowitz MD, Maher ER. Whitworth J, et al. Among authors: maher er. Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14. Am J Hum Genet. 2018. PMID: 29909963 Free PMC article.
Rapid disease progression in a patient with mismatch repair-deficient and cortisol secreting adrenocortical carcinoma treated with pembrolizumab.
Casey RT, Giger O, Seetho I, Marker A, Pitfield D, Boyle LH, Gurnell M, Shaw A, Tischkowitz M, Maher ER, Chatterjee VK, Janowitz T, Mells G, Corrie P, Challis BG. Casey RT, et al. Among authors: maher er. Semin Oncol. 2018 Jun;45(3):151-155. doi: 10.1053/j.seminoncol.2018.06.001. Epub 2018 Jun 21. Semin Oncol. 2018. PMID: 30262398 Free PMC article.
MethylCal: Bayesian calibration of methylation levels.
Ochoa E, Zuber V, Fernandez-Jimenez N, Bilbao JR, Clark GR, Maher ER, Bottolo L. Ochoa E, et al. Among authors: maher er. Nucleic Acids Res. 2019 Aug 22;47(14):e81. doi: 10.1093/nar/gkz325. Nucleic Acids Res. 2019. PMID: 31049595 Free PMC article.
595 results