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Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.
Sapkota Y, Steinthorsdottir V, Morris AP, Fassbender A, Rahmioglu N, De Vivo I, Buring JE, Zhang F, Edwards TL, Jones S, O D, Peterse D, Rexrode KM, Ridker PM, Schork AJ, MacGregor S, Martin NG, Becker CM, Adachi S, Yoshihara K, Enomoto T, Takahashi A, Kamatani Y, Matsuda K, Kubo M, Thorleifsson G, Geirsson RT, Thorsteinsdottir U, Wallace LM; iPSYCH-SSI-Broad Group; Yang J, Velez Edwards DR, Nyegaard M, Low SK, Zondervan KT, Missmer SA, D'Hooghe T, Montgomery GW, Chasman DI, Stefansson K, Tung JY, Nyholt DR. Sapkota Y, et al. Nat Commun. 2017 May 24;8:15539. doi: 10.1038/ncomms15539. Nat Commun. 2017. PMID: 28537267 Free PMC article.
Polygenic Risk and Chemotherapy-Related Subsequent Malignancies in Childhood Cancer Survivors: A Childhood Cancer Survivor Study and St Jude Lifetime Cohort Study Report.
Im C, Sharafeldin N, Yuan Y, Wang Z, Sapkota Y, Lu Z, Spector LG, Howell RM, Arnold MA, Hudson MM, Ness KK, Robison LL, Bhatia S, Armstrong GT, Neglia JP, Yasui Y, Turcotte LM. Im C, et al. Among authors: sapkota y. J Clin Oncol. 2023 Sep 20;41(27):4381-4393. doi: 10.1200/JCO.23.00428. Epub 2023 Jul 17. J Clin Oncol. 2023. PMID: 37459583
Association between endometriosis and the interleukin 1A (IL1A) locus.
Sapkota Y, Low SK, Attia J, Gordon SD, Henders AK, Holliday EG, MacGregor S, Martin NG, McEvoy M, Morris AP, Takahashi A, Scott RJ, Kubo M, Zondervan KT, Montgomery GW, Nyholt DR. Sapkota Y, et al. Hum Reprod. 2015 Jan;30(1):239-48. doi: 10.1093/humrep/deu267. Epub 2014 Oct 21. Hum Reprod. 2015. PMID: 25336714 Free PMC article.
Genetic burden associated with varying degrees of disease severity in endometriosis.
Sapkota Y, Attia J, Gordon SD, Henders AK, Holliday EG, Rahmioglu N, MacGregor S, Martin NG, McEvoy M, Morris AP, Scott RJ, Zondervan KT, Montgomery GW, Nyholt DR. Sapkota Y, et al. Mol Hum Reprod. 2015 Jul;21(7):594-602. doi: 10.1093/molehr/gav021. Epub 2015 Apr 16. Mol Hum Reprod. 2015. PMID: 25882541 Free PMC article.
Endometrial vezatin and its association with endometriosis risk.
Holdsworth-Carson SJ, Fung JN, Luong HT, Sapkota Y, Bowdler LM, Wallace L, Teh WT, Powell JE, Girling JE, Healey M, Montgomery GW, Rogers PA. Holdsworth-Carson SJ, et al. Among authors: sapkota y. Hum Reprod. 2016 May;31(5):999-1013. doi: 10.1093/humrep/dew047. Epub 2016 Mar 22. Hum Reprod. 2016. PMID: 27005890
Rare and low-frequency coding variants alter human adult height.
Marouli E, Graff M, Medina-Gomez C, Lo KS, Wood AR, Kjaer TR, Fine RS, Lu Y, Schurmann C, Highland HM, Rüeger S, Thorleifsson G, Justice AE, Lamparter D, Stirrups KE, Turcot V, Young KL, Winkler TW, Esko T, Karaderi T, Locke AE, Masca NG, Ng MC, Mudgal P, Rivas MA, Vedantam S, Mahajan A, Guo X, Abecasis G, Aben KK, Adair LS, Alam DS, Albrecht E, Allin KH, Allison M, Amouyel P, Appel EV, Arveiler D, Asselbergs FW, Auer PL, Balkau B, Banas B, Bang LE, Benn M, Bergmann S, Bielak LF, Blüher M, Boeing H, Boerwinkle E, Böger CA, Bonnycastle LL, Bork-Jensen J, Bots ML, Bottinger EP, Bowden DW, Brandslund I, Breen G, Brilliant MH, Broer L, Burt AA, Butterworth AS, Carey DJ, Caulfield MJ, Chambers JC, Chasman DI, Chen YI, Chowdhury R, Christensen C, Chu AY, Cocca M, Collins FS, Cook JP, Corley J, Galbany JC, Cox AJ, Cuellar-Partida G, Danesh J, Davies G, de Bakker PI, de Borst GJ, de Denus S, de Groot MC, de Mutsert R, Deary IJ, Dedoussis G, Demerath EW, den Hollander AI, Dennis JG, Di Angelantonio E, Drenos F, Du M, Dunning AM, Easton DF, Ebeling T, Edwards TL, Ellinor PT, Elliott P, Evangelou E, Farmaki AE, Faul JD, Feitosa MF, Feng S, Ferrannini E, Ferrario MM, Ferrieres J, Florez JC, F… See abstract for full author list ➔ Marouli E, et al. Among authors: sapkota y. Nature. 2017 Feb 9;542(7640):186-190. doi: 10.1038/nature21039. Epub 2017 Feb 1. Nature. 2017. PMID: 28146470 Free PMC article.
Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339.
Powell JE, Fung JN, Shakhbazov K, Sapkota Y, Cloonan N, Hemani G, Hillman KM, Kaufmann S, Luong HT, Bowdler L, Painter JN, Holdsworth-Carson SJ, Visscher PM, Dinger ME, Healey M, Nyholt DR, French JD, Edwards SL, Rogers PA, Montgomery GW. Powell JE, et al. Among authors: sapkota y. Hum Mol Genet. 2016 Nov 15;25(22):5046-5058. doi: 10.1093/hmg/ddw320. Hum Mol Genet. 2016. PMID: 28171565
130 results