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Page 1
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: smith ps. 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: smith ps. 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.
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: smith ps. 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.
SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice.
Casey RT, Ten Hoopen R, Ochoa E, Challis BG, Whitworth J, Smith PS, Martin JE, Clark GR, Rodger F, Maranian M, Allinson K, Madhu B, Roberts T, Campos L, Anstee J, Park SM, Marker A, Watts C, Bulusu VR, Giger OT, Maher ER. Casey RT, et al. Among authors: smith ps. Sci Rep. 2019 Jul 15;9(1):10244. doi: 10.1038/s41598-019-46124-9. Sci Rep. 2019. PMID: 31308404 Free PMC article.
Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing.
Smith PS, Whitworth J, West H, Cook J, Gardiner C, Lim DHK, Morrison PJ, Hislop RG, Murray E; NIHR Rare Disease BioResource; Tischkowitz M, Warren AY, Woodward ER, Maher ER. Smith PS, et al. Genes Chromosomes Cancer. 2020 Jun;59(6):333-347. doi: 10.1002/gcc.22833. Epub 2020 Feb 5. Genes Chromosomes Cancer. 2020. PMID: 31943436 Free PMC article. Review.
Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.
Yngvadottir B, Andreou A, Bassaganyas L, Larionov A, Cornish AJ, Chubb D, Saunders CN, Smith PS, Zhang H, Cole Y, Research Consortium GE, Larkin J, Browning L, Turajlic S, Litchfield K, Houlston RS, Maher ER. Yngvadottir B, et al. Among authors: smith ps. Hum Mol Genet. 2022 Aug 25;31(17):3001-3011. doi: 10.1093/hmg/ddac089. Hum Mol Genet. 2022. PMID: 35441217 Free PMC article.
Erratum: Erratum.
Jones RS, Smith PS, Berg PH, de la Peña A, Cook PP, Shawa I, Kioussopoulos KM, Hu Y, Schott RJ. Jones RS, et al. Among authors: smith ps. Clin Med Insights Circ Respir Pulm Med. 2022 Dec 13;16:11795484221127555. doi: 10.1177/11795484221127555. eCollection 2022. Clin Med Insights Circ Respir Pulm Med. 2022. PMID: 36531909 Free PMC article.
117 results