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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.
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.
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.
A Phase II study of neoadjuvant axitinib for reducing the extent of venous tumour thrombus in clear cell renal cell cancer with venous invasion (NAXIVA).
Stewart GD, Welsh SJ, Ursprung S, Gallagher FA, Jones JO, Shields J, Smith CG, Mitchell TJ, Warren AY, Bex A, Boleti E, Carruthers J, Eisen T, Fife K, Hamid A, Laird A, Leung S, Malik J, Mendichovszky IA, Mumtaz F, Oades G, Priest AN, Riddick ACP, Venugopal B, Welsh M, Riddle K, Hopcroft LEM; NAXIVA Trial Group; Jones RJ. Stewart GD, et al. Br J Cancer. 2022 Oct;127(6):1051-1060. doi: 10.1038/s41416-022-01883-7. Epub 2022 Jun 23. Br J Cancer. 2022. PMID: 35739300 Free PMC article. Clinical Trial.
Human-aided dispersal and population bottlenecks facilitate parasitism escape in the most invasive mosquito species.
Girard M, Martin E, Vallon L, Tran Van V, Da Silva Carvalho C, Sack J, Bontemps Z, Balteneck J, Colin F, Duval P, Malassigné S, Hennessee I, Vizcaino L, Romer Y, Dada N, Ly Huynh Kim K, Huynh Thi Thuy T, Bellet C, Lambert G, Nantenaina Raharimalala F, Jupatanakul N, Goubert C, Boulesteix M, Mavingui P, Desouhant E, Luis P, Cazabet R, Hay AE, Valiente Moro C, Minard G. Girard M, et al. Among authors: martin e. PNAS Nexus. 2024 Apr 30;3(5):pgae175. doi: 10.1093/pnasnexus/pgae175. eCollection 2024 May. PNAS Nexus. 2024. PMID: 38715727 Free PMC article.
6,123 results