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Homologous recombination deficiency in newly diagnosed FIGO stage III/IV high-grade epithelial ovarian cancer: a multi-national observational study.
Int J Gynecol Cancer. 2023 Aug 7;33(8):1253-1259. doi: 10.1136/ijgc-2022-004211.
Int J Gynecol Cancer. 2023.
PMID: 37072323
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
Loong L, Huntley C, McRonald F, Santaniello F, Pethick J, Torr B, Allen S, Tulloch O, Goel S, Shand B, Rahman T, Luchtenborg M, Garrett A, Barber R, Bedenham T, Bourn D, Bradshaw K, Brooks C, Bruty J, Burghel GJ, Butler S, Buxton C, Callaway A, Callaway J, Drummond J, Durkie M, Field J, Jenkins L, McVeigh TP, Mountford R, Nyanhete R, Petrides E, Robinson R, Scott T, Stinton V, Tellez J, Wallace AJ, Yarram-Smith L, Sahan K, Hallowell N, Eccles DM, Pharoah P, Tischkowitz M, Antoniou AC, Evans DG, Lalloo F, Norbury G, Morris E, Burn J, Hardy S, Turnbull C.
Loong L, et al. Among authors: yarram smith l.
J Med Genet. 2023 Jul;60(7):669-678. doi: 10.1136/jmg-2022-108800. Epub 2022 Dec 26.
J Med Genet. 2023.
PMID: 36572524
Free PMC article.
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Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.
Sen ES, Dean P, Yarram-Smith L, Bierzynska A, Woodward G, Buxton C, Dennis G, Welsh GI, Williams M, Saleem MA.
Sen ES, et al. Among authors: yarram smith l.
J Med Genet. 2017 Dec;54(12):795-804. doi: 10.1136/jmedgenet-2017-104811. Epub 2017 Aug 5.
J Med Genet. 2017.
PMID: 28780565
Free PMC article.
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Extent of investigation and management of cases of 'unexplained' mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus.
McVeigh TP, Monahan KJ, Christopher J, West N, Scott M, Murray J, Hanson H; UKCGG dMMR Consensus Meeting Attendees.
McVeigh TP, et al.
J Med Genet. 2024 Apr 6:jmg-2024-109886. doi: 10.1136/jmg-2024-109886. Online ahead of print.
J Med Genet. 2024.
PMID: 38531626
Free article.
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Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
Rhodes HL, Yarram-Smith L, Rice SJ, Tabaksert A, Edwards N, Hartley A, Woodward MN, Smithson SL, Tomson C, Welsh GI, Williams M, Thwaites DT, Sayer JA, Coward RJ.
Rhodes HL, et al. Among authors: yarram smith l.
Clin J Am Soc Nephrol. 2015 Jul 7;10(7):1235-45. doi: 10.2215/CJN.10981114. Epub 2015 May 11.
Clin J Am Soc Nephrol. 2015.
PMID: 25964309
Free PMC article.
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