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Discovery of genomic loci associated with sleep apnea risk through multi-trait GWAS analysis with snoring.
Campos AI, Ingold N, Huang Y, Mitchell BL, Kho PF, Han X, García-Marín LM, Ong JS; 23andMe Research Team; Law MH, Yokoyama JS, Martin NG, Dong X, Cuellar-Partida G, MacGregor S, Aslibekyan S, Rentería ME. Campos AI, et al. Among authors: cuellar partida g. Sleep. 2023 Mar 9;46(3):zsac308. doi: 10.1093/sleep/zsac308. Sleep. 2023. PMID: 36525587 Free PMC article.
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
Hysi PG, Cheng CY, Springelkamp H, Macgregor S, Bailey JNC, Wojciechowski R, Vitart V, Nag A, Hewitt AW, Höhn R, Venturini C, Mirshahi A, Ramdas WD, Thorleifsson G, Vithana E, Khor CC, Stefansson AB, Liao J, Haines JL, Amin N, Wang YX, Wild PS, Ozel AB, Li JZ, Fleck BW, Zeller T, Staffieri SE, Teo YY, Cuellar-Partida G, Luo X, Allingham RR, Richards JE, Senft A, Karssen LC, Zheng Y, Bellenguez C, Xu L, Iglesias AI, Wilson JF, Kang JH, van Leeuwen EM, Jonsson V, Thorsteinsdottir U, Despriet DDG, Ennis S, Moroi SE, Martin NG, Jansonius NM, Yazar S, Tai ES, Amouyel P, Kirwan J, van Koolwijk LME, Hauser MA, Jonasson F, Leo P, Loomis SJ, Fogarty R, Rivadeneira F, Kearns L, Lackner KJ, de Jong PTVM, Simpson CL, Pennell CE, Oostra BA, Uitterlinden AG, Saw SM, Lotery AJ, Bailey-Wilson JE, Hofman A, Vingerling JR, Maubaret C, Pfeiffer N, Wolfs RCW, Lemij HG, Young TL, Pasquale LR, Delcourt C, Spector TD, Klaver CCW, Small KS, Burdon KP, Stefansson K, Wong TY; BMES GWAS Group; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2; Viswanathan A, Mackey DA, Craig JE, Wiggs JL, van Duijn CM, Hammond CJ, Aung T. Hysi PG, et al. Nat Genet. 2014 Oct;46(10):1126-1130. doi: 10.1038/ng.3087. Epub 2014 Aug 31. Nat Genet. 2014. PMID: 25173106 Free PMC article.
Genetic and environmental factors in conjunctival UV autofluorescence.
Yazar S, Cuellar-Partida G, McKnight CM, Quach-Thanissorn P, Mountain JA, Coroneo MT, Pennell CE, Hewitt AW, MacGregor S, Mackey DA. Yazar S, et al. JAMA Ophthalmol. 2015 Apr;133(4):406-12. doi: 10.1001/jamaophthalmol.2014.5627. JAMA Ophthalmol. 2015. PMID: 25590795 Free PMC article.
Common genetic variants influence human subcortical brain structures.
Hibar DP, Stein JL, Renteria ME, Arias-Vasquez A, Desrivières S, Jahanshad N, Toro R, Wittfeld K, Abramovic L, Andersson M, Aribisala BS, Armstrong NJ, Bernard M, Bohlken MM, Boks MP, Bralten J, Brown AA, Chakravarty MM, Chen Q, Ching CR, Cuellar-Partida G, den Braber A, Giddaluru S, Goldman AL, Grimm O, Guadalupe T, Hass J, Woldehawariat G, Holmes AJ, Hoogman M, Janowitz D, Jia T, Kim S, Klein M, Kraemer B, Lee PH, Olde Loohuis LM, Luciano M, Macare C, Mather KA, Mattheisen M, Milaneschi Y, Nho K, Papmeyer M, Ramasamy A, Risacher SL, Roiz-Santiañez R, Rose EJ, Salami A, Sämann PG, Schmaal L, Schork AJ, Shin J, Strike LT, Teumer A, van Donkelaar MM, van Eijk KR, Walters RK, Westlye LT, Whelan CD, Winkler AM, Zwiers MP, Alhusaini S, Athanasiu L, Ehrlich S, Hakobjan MM, Hartberg CB, Haukvik UK, Heister AJ, Hoehn D, Kasperaviciute D, Liewald DC, Lopez LM, Makkinje RR, Matarin M, Naber MA, McKay DR, Needham M, Nugent AC, Pütz B, Royle NA, Shen L, Sprooten E, Trabzuni D, van der Marel SS, van Hulzen KJ, Walton E, Wolf C, Almasy L, Ames D, Arepalli S, Assareh AA, Bastin ME, Brodaty H, Bulayeva KB, Carless MA, Cichon S, Corvin A, Curran JE, Czisch M, de Zubicaray GI, Dillman A, Duggirala… See abstract for full author list ➔ Hibar DP, et al. Nature. 2015 Apr 9;520(7546):224-9. doi: 10.1038/nature14101. Epub 2015 Jan 21. Nature. 2015. PMID: 25607358 Free PMC article.
ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.
Springelkamp H, Iglesias AI, Cuellar-Partida G, Amin N, Burdon KP, van Leeuwen EM, Gharahkhani P, Mishra A, van der Lee SJ, Hewitt AW, Rivadeneira F, Viswanathan AC, Wolfs RC, Martin NG, Ramdas WD, van Koolwijk LM, Pennell CE, Vingerling JR, Mountain JE, Uitterlinden AG, Hofman A, Mitchell P, Lemij HG, Wang JJ, Klaver CC, Mackey DA, Craig JE, van Duijn CM, MacGregor S. Springelkamp H, et al. Hum Mol Genet. 2015 May 1;24(9):2689-99. doi: 10.1093/hmg/ddv027. Epub 2015 Jan 30. Hum Mol Genet. 2015. PMID: 25637523 Free article.
WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness.
Cuellar-Partida G, Springelkamp H, Lucas SE, Yazar S, Hewitt AW, Iglesias AI, Montgomery GW, Martin NG, Pennell CE, van Leeuwen EM, Verhoeven VJ, Hofman A, Uitterlinden AG, Ramdas WD, Wolfs RC, Vingerling JR, Brown MA, Mills RA, Craig JE, Klaver CC, van Duijn CM, Burdon KP, MacGregor S, Mackey DA. Cuellar-Partida G, et al. Hum Mol Genet. 2015 Sep 1;24(17):5060-8. doi: 10.1093/hmg/ddv211. Epub 2015 Jun 5. Hum Mol Genet. 2015. PMID: 26049155 Free article.
Shared genetics underlying epidemiological association between endometriosis and ovarian cancer.
Lu Y, Cuellar-Partida G, Painter JN, Nyholt DR; Australian Ovarian Cancer Study; International Endogene Consortium (IEC); Morris AP, Fasching PA, Hein A, Burghaus S, Beckmann MW, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Vanderstichele A, Doherty JA, Rossing MA, Wicklund KG, Chang-Claude J, Eilber U, Rudolph A, Wang-Gohrke S, Goodman MT, Bogdanova N, Dörk T, Dürst M, Hillemanns P, Runnebaum IB, Antonenkova N, Butzow R, Leminen A, Nevanlinna H, Pelttari LM, Edwards RP, Kelley JL, Modugno F, Moysich KB, Ness RB, Cannioto R, Høgdall E, Jensen A, Giles GG, Bruinsma F, Kjaer SK, Hildebrandt MA, Liang D, Lu KH, Wu X, Bisogna M, Dao F, Levine DA, Cramer DW, Terry KL, Tworoger SS, Missmer S, Bjorge L, Salvesen HB, Kopperud RK, Bischof K, Aben KK, Kiemeney LA, Massuger LF, Brooks-Wilson A, Olson SH, McGuire V, Rothstein JH, Sieh W, Whittemore AS, Cook LS, Le ND, Gilks CB, Gronwald J, Jakubowska A, Lubiński J, Gawełko J, Song H, Tyrer JP, Wentzensen N, Brinton L, Trabert B, Lissowska J, Mclaughlin JR, Narod SA, Phelan C, Anton-Culver H, Ziogas A, Eccles D, Gayther SA, Gentry-Maharaj A, Menon U, Ramus SJ, Wu AH, Dansonka-Mieszkowska A, Kupryjanczyk J, Timorek A, Szafron L, Cunningham JM,… See abstract for full author list ➔ Lu Y, et al. Hum Mol Genet. 2015 Oct 15;24(20):5955-64. doi: 10.1093/hmg/ddv306. Epub 2015 Jul 30. Hum Mol Genet. 2015. PMID: 26231222 Free PMC article.
Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept.
Franke B, Stein JL, Ripke S, Anttila V, Hibar DP, van Hulzen KJE, Arias-Vasquez A, Smoller JW, Nichols TE, Neale MC, McIntosh AM, Lee P, McMahon FJ, Meyer-Lindenberg A, Mattheisen M, Andreassen OA, Gruber O, Sachdev PS, Roiz-Santiañez R, Saykin AJ, Ehrlich S, Mather KA, Turner JA, Schwarz E, Thalamuthu A, Shugart YY, Ho YY, Martin NG, Wright MJ; Schizophrenia Working Group of the Psychiatric Genomics Consortium; ENIGMA Consortium; O'Donovan MC, Thompson PM, Neale BM, Medland SE, Sullivan PF. Franke B, et al. Nat Neurosci. 2016 Mar;19(3):420-431. doi: 10.1038/nn.4228. Epub 2016 Feb 1. Nat Neurosci. 2016. PMID: 26854805 Free PMC article.
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