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Page 1
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH. Watson LM, et al. Among authors: wallis y. Am J Hum Genet. 2017 Sep 7;101(3):451-458. doi: 10.1016/j.ajhg.2017.08.005. Am J Hum Genet. 2017. PMID: 28886343 Free PMC article.
Homologous recombination deficiency in newly diagnosed FIGO stage III/IV high-grade epithelial ovarian cancer: a multi-national observational study.
Morgan RD, Clamp AR, Barnes BM, Timms K, Schlecht H, Yarram-Smith L, Wallis Y, Valganon-Petrizan M, MacMahon S, White R, Morgan S, McKenna S, Hudson E, Tookman L, George A, Manchanda R, Sundar SS, Nicum S, Brenton JD, Kristeleit RS, Banerjee S, McNeish IA, Ledermann JA, Taylor SS, Evans DGR, Jayson GC. Morgan RD, et al. Among authors: wallis y. Int J Gynecol Cancer. 2023 Aug 7;33(8):1253-1259. doi: 10.1136/ijgc-2022-004211. Int J Gynecol Cancer. 2023. PMID: 37072323
British Gynaecological Cancer Society/British Association of Gynaecological Pathology consensus for genetic testing in epithelial ovarian cancer in the United Kingdom.
Leung EY, Nicum S, Morrison J, Brenton JD, Funingana IG, Morgan RD, Ghaem-Maghami S, Miles T, Manchanda R, Bowen R, Andreou A, Loughborough W, Freeman S, Gajjar K, Coleridge S, Jimenez-Linan M, Balega J, Frost J, Keightley A, Wallis Y, Sundar S, Ganesan R. Leung EY, et al. Among authors: wallis y. Int J Gynecol Cancer. 2024 Sep 2;34(9):1334-1343. doi: 10.1136/ijgc-2024-005756. Int J Gynecol Cancer. 2024. PMID: 39222974
Multiplex PCR and Next Generation Sequencing for the Non-Invasive Detection of Bladder Cancer.
Ward DG, Baxter L, Gordon NS, Ott S, Savage RS, Beggs AD, James JD, Lickiss J, Green S, Wallis Y, Wei W, James ND, Zeegers MP, Cheng KK, Mathews GM, Patel P, Griffiths M, Bryan RT. Ward DG, et al. Among authors: wallis y. PLoS One. 2016 Feb 22;11(2):e0149756. doi: 10.1371/journal.pone.0149756. eCollection 2016. PLoS One. 2016. PMID: 26901314 Free PMC article.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Jayawant S, Lickiss J, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH. Watson LM, et al. Among authors: wallis y. Am J Hum Genet. 2017 Oct 5;101(4):638. doi: 10.1016/j.ajhg.2017.09.006. Am J Hum Genet. 2017. PMID: 28985497 Free PMC article. No abstract available.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH. Watson LM, et al. Among authors: wallis y. Am J Hum Genet. 2017 Nov 2;101(5):866. doi: 10.1016/j.ajhg.2017.10.008. Am J Hum Genet. 2017. PMID: 29100096 Free PMC article. No abstract available.
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Ceroni F, Aguilera-Garcia D, Chassaing N, Bax DA, Blanco-Kelly F, Ramos P, Tarilonte M, Villaverde C, da Silva LRJ, Ballesta-Martínez MJ, Sanchez-Soler MJ, Holt RJ, Cooper-Charles L, Bruty J, Wallis Y, McMullan D, Hoffman J, Bunyan D, Stewart A, Stewart H, Lachlan K; DDD Study; Fryer A, McKay V, Roume J, Dureau P, Saggar A, Griffiths M, Calvas P, Ayuso C, Corton M, Ragge NK. Ceroni F, et al. Among authors: wallis y. Hum Genet. 2019 Sep;138(8-9):1027-1042. doi: 10.1007/s00439-018-1875-2. Epub 2018 Feb 20. Hum Genet. 2019. PMID: 29464339
Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.
Smith J, Read ML, Hoffman J, Brown R, Bradshaw B, Campbell C, Cole T, Navas JD, Eatock F, Gundara JS, Lian E, Mcmullan D, Morgan NV, Mulligan L, Morrison PJ, Robledo M, Simpson MA, Smith VE, Stewart S, Trembath RC, Sidhu S, Togneri FS, Wake NC, Wallis Y, Watkinson JC, Maher ER, McCabe CJ, Woodward ER. Smith J, et al. Among authors: wallis y. Hum Mol Genet. 2016 May 1;25(9):1836-45. doi: 10.1093/hmg/ddw057. Epub 2016 Mar 3. Hum Mol Genet. 2016. PMID: 26945007
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK. Loong L, et al. Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18. Genet Med. 2022. PMID: 34906453 Free PMC article.
51 results