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Investigating the role of somatic sequencing platforms for phaeochromocytoma and paraganglioma in a large UK cohort.
Winzeler B, Tufton N, S Lim E, Challis BG, Park SM, Izatt L, Carroll PV, Velusamy A, Hulse T, Whitelaw BC, Martin E, Rodger F, Maranian M, Clark GR, A Akker S, Maher ER, Casey RT. Winzeler B, et al. Among authors: martin e. Clin Endocrinol (Oxf). 2022 Oct;97(4):448-459. doi: 10.1111/cen.14639. Epub 2021 Dec 6. Clin Endocrinol (Oxf). 2022. PMID: 34870338 Free PMC article. Review.
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: martin e. Hum Mol Genet. 2022 Aug 23;31(16):2728-2737. doi: 10.1093/hmg/ddac066. Hum Mol Genet. 2022. PMID: 35323939 Free PMC article.
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Lee S, Menzies L, Hay E, Ochoa E, Docquier F, Rodger F, Deshpande C, Foulds NC, Jacquemont S, Jizi K, Kiep H, Kraus A, Löhner K, Morrison PJ, Popp B, Richardson R, van Haeringen A, Martin E, Toribio A, Li F, Jones WD, Sansbury FH, Maher ER. Lee S, et al. Among authors: martin e. Hum Mol Genet. 2023 Nov 3;32(22):3123-3134. doi: 10.1093/hmg/ddad079. Hum Mol Genet. 2023. PMID: 37166351 Free PMC article. Review.
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome.
Lee S, Ochoa E, Badura-Stronka M, Donnelly D, Lederer D, Lynch SA, Gardham A, Morton J, Stewart H, Docquier F, Rodger F, Martin E, Toribio A, Maher ER, Balasubramanian M. Lee S, et al. Among authors: martin e. Eur J Hum Genet. 2023 Sep;31(9):1040-1047. doi: 10.1038/s41431-023-01422-9. Epub 2023 Jul 5. Eur J Hum Genet. 2023. PMID: 37407733 Free PMC article.
Assessment and mitigation of bias in influenza and COVID-19 vaccine effectiveness analyses - IVY Network, September 1, 2022-March 30, 2023.
Lewis NM, Harker EJ, Leis A, Zhu Y, Talbot HK, Grijalva CG, Halasa N, Chappell JD, Johnson CA, Rice TW, Casey JD, Lauring AS, Gaglani M, Ghamande S, Columbus C, Steingrub JS, Shapiro NI, Duggal A, Felzer J, Prekker ME, Peltan ID, Brown SM, Hager DN, Gong MN, Mohamed A, Exline MC, Khan A, Wilson JG, Mosier J, Qadir N, Chang SY, Ginde AA, Mohr NM, Mallow C, Harris ES, Johnson NJ, Srinivasan V, Gibbs KW, Kwon JH, Vaughn IA, Ramesh M, Safdar B, DeCuir J, Surie D, Dawood FS, Ellington S, Self WH, Martin ET. Lewis NM, et al. Vaccine. 2024 Nov 7;43(Pt 2):126492. doi: 10.1016/j.vaccine.2024.126492. Online ahead of print. Vaccine. 2024. PMID: 39515195
6,291 results