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918 results

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Page 1
Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease.
Andreou A, Yngvadottir B, Bassaganyas L, Clark G, Martin E, Whitworth J, Cornish AJ; Genomics England Research Consortium; Houlston RS, Rich P, Egan C, Hodgson SV, Warren AY, Snape K, Maher ER. Andreou A, et al. Among authors: whitworth j. Hum Mol Genet. 2022 Aug 23;31(16):2728-2737. doi: 10.1093/hmg/ddac066. Hum Mol Genet. 2022. PMID: 35323939 Free PMC article.
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma.
Jafri M, Whitworth J, Rattenberry E, Vialard L, Kilby G, Kumar AV, Izatt L, Lalloo F, Brennan P, Cook J, Morrison PJ, Canham N, Armstrong R, Brewer C, Tomkins S, Donaldson A, Barwell J, Cole TR, Atkinson AB, Aylwin S, Ball SG, Srirangalingam U, Chew SL, Evans DG, Hodgson SV, Irving R, Woodward E, Macdonald F, Maher ER. Jafri M, et al. Among authors: whitworth j. Clin Endocrinol (Oxf). 2013 Jun;78(6):898-906. doi: 10.1111/cen.12074. Epub 2013 Apr 6. Clin Endocrinol (Oxf). 2013. PMID: 23072324
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. 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: whitworth j. 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: whitworth j. 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. 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: whitworth j. 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. Among authors: whitworth j. 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.
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett A, Callaway A, Durkie M, Cubuk C, Alikian M, Burghel GJ, Robinson R, Izatt L, Talukdar S, Side L, Cranston T, Palmer-Smith S, Baralle D, Berry IR, Drummond J, Wallace AJ, Norbury G, Eccles DM, Ellard S, Lalloo F, Evans DG, Woodward E, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. J Med Genet. 2020 Dec;57(12):829-834. doi: 10.1136/jmedgenet-2019-106759. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170000 Free PMC article.
918 results