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Page 1
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.
de Vries PS, Chasman DI, Sabater-Lleal M, Chen MH, Huffman JE, Steri M, Tang W, Teumer A, Marioni RE, Grossmann V, Hottenga JJ, Trompet S, Müller-Nurasyid M, Zhao JH, Brody JA, Kleber ME, Guo X, Wang JJ, Auer PL, Attia JR, Yanek LR, Ahluwalia TS, Lahti J, Venturini C, Tanaka T, Bielak LF, Joshi PK, Rocanin-Arjo A, Kolcic I, Navarro P, Rose LM, Oldmeadow C, Riess H, Mazur J, Basu S, Goel A, Yang Q, Ghanbari M, Willemsen G, Rumley A, Fiorillo E, de Craen AJ, Grotevendt A, Scott R, Taylor KD, Delgado GE, Yao J, Kifley A, Kooperberg C, Qayyum R, Lopez LM, Berentzen TL, Räikkönen K, Mangino M, Bandinelli S, Peyser PA, Wild S, Trégouët DA, Wright AF, Marten J, Zemunik T, Morrison AC, Sennblad B, Tofler G, de Maat MP, de Geus EJ, Lowe GD, Zoledziewska M, Sattar N, Binder H, Völker U, Waldenberger M, Khaw KT, Mcknight B, Huang J, Jenny NS, Holliday EG, Qi L, Mcevoy MG, Becker DM, Starr JM, Sarin AP, Hysi PG, Hernandez DG, Jhun MA, Campbell H, Hamsten A, Rivadeneira F, Mcardle WL, Slagboom PE, Zeller T, Koenig W, Psaty BM, Haritunians T, Liu J, Palotie A, Uitterlinden AG, Stott DJ, Hofman A, Franco OH, Polasek O, Rudan I, Morange PE, Wilson JF, Kardia SL, Ferrucci L, Spector TD, Eri… See abstract for full author list ➔ de Vries PS, et al. Among authors: venturini c. Hum Mol Genet. 2016 Jan 15;25(2):358-70. doi: 10.1093/hmg/ddv454. Epub 2015 Nov 10. Hum Mol Genet. 2016. PMID: 26561523 Free PMC article.
Genomic investigations of unexplained acute hepatitis in children.
Morfopoulou S, Buddle S, Torres Montaguth OE, Atkinson L, Guerra-Assunção JA, Moradi Marjaneh M, Zennezini Chiozzi R, Storey N, Campos L, Hutchinson JC, Counsell JR, Pollara G, Roy S, Venturini C, Antinao Diaz JF, Siam A, Tappouni LJ, Asgarian Z, Ng J, Hanlon KS, Lennon A, McArdle A, Czap A, Rosenheim J, Andrade C, Anderson G, Lee JCD, Williams R, Williams CA, Tutill H, Bayzid N, Martin Bernal LM, Macpherson H, Montgomery KA, Moore C, Templeton K, Neill C, Holden M, Gunson R, Shepherd SJ, Shah P, Cooray S, Voice M, Steele M, Fink C, Whittaker TE, Santilli G, Gissen P, Kaufer BB, Reich J, Andreani J, Simmonds P, Alrabiah DK, Castellano S, Chikowore P, Odam M, Rampling T, Houlihan C, Hoschler K, Talts T, Celma C, Gonzalez S, Gallagher E, Simmons R, Watson C, Mandal S, Zambon M, Chand M, Hatcher J, De S, Baillie K, Semple MG; DIAMONDS Consortium; PERFORM Consortium; ISARIC 4C Investigators; Martin J, Ushiro-Lumb I, Noursadeghi M, Deheragoda M, Hadzic N, Grammatikopoulos T, Brown R, Kelgeri C, Thalassinos K, Waddington SN, Jacques TS, Thomson E, Levin M, Brown JR, Breuer J. Morfopoulou S, et al. Among authors: venturini c. Nature. 2023 May;617(7961):564-573. doi: 10.1038/s41586-023-06003-w. Epub 2023 Mar 30. Nature. 2023. PMID: 36996872 Free PMC article.
Association mapping of the high-grade myopia MYP3 locus reveals novel candidates UHRF1BP1L, PTPRR, and PPFIA2.
Hawthorne F, Feng S, Metlapally R, Li YJ, Tran-Viet KN, Guggenheim JA, Malecaze F, Calvas P, Rosenberg T, Mackey DA, Venturini C, Hysi PG, Hammond CJ, Young TL. Hawthorne F, et al. Among authors: venturini c. Invest Ophthalmol Vis Sci. 2013 Mar 21;54(3):2076-86. doi: 10.1167/iovs.12-11102. Invest Ophthalmol Vis Sci. 2013. PMID: 23422819 Free PMC article.
Age of myopia onset in a British population-based twin cohort.
Williams KM, Hysi PG, Nag A, Yonova-Doing E, Venturini C, Hammond CJ. Williams KM, et al. Among authors: venturini c. Ophthalmic Physiol Opt. 2013 May;33(3):339-45. doi: 10.1111/opo.12042. Epub 2013 Mar 20. Ophthalmic Physiol Opt. 2013. PMID: 23510367
Copy number variation at chromosome 5q21.2 is associated with intraocular pressure.
Nag A, Venturini C, Hysi PG, Arno M, Aldecoa-Otalora Astarloa E, Macgregor S, Hewitt AW, Young TL, Mitchell P, Viswanathan AC, Mackey DA, Hammond CJ. Nag A, et al. Among authors: venturini c. Invest Ophthalmol Vis Sci. 2013 May 1;54(5):3607-12. doi: 10.1167/iovs.13-11952. Invest Ophthalmol Vis Sci. 2013. PMID: 23599335 Free PMC article.
Candidate gene study of macular response to supplemental lutein and zeaxanthin.
Yonova-Doing E, Hysi PG, Venturini C, Williams KM, Nag A, Beatty S, Liew SH, Gilbert CE, Hammond CJ. Yonova-Doing E, et al. Among authors: venturini c. Exp Eye Res. 2013 Oct;115:172-7. doi: 10.1016/j.exer.2013.07.020. Epub 2013 Jul 25. Exp Eye Res. 2013. PMID: 23891863 Free PMC article.
Clarifying the role of ATOH7 in glaucoma endophenotypes.
Venturini C, Nag A, Hysi PG, Wang JJ, Wong TY, Healey PR, Mitchell P, Hammond CJ, Viswanathan AC; Wellcome Trust Case Control Consortium 2, BMES GWAS Group. Venturini C, et al. Br J Ophthalmol. 2014 Apr;98(4):562-6. doi: 10.1136/bjophthalmol-2013-304080. Epub 2014 Jan 23. Br J Ophthalmol. 2014. PMID: 24457358
Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.
Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, Ruddle JB, Ali H, Carnt N, Gardner JC, Hassan H, Gade E, Kearns L, Jelsig AM, Restori M, Webb TR, Laws D, Cosgrove M, Hertz JM, Russell-Eggitt I, Pilz DT, Hammond CJ, Tuft SJ, Hardcastle AJ. Davidson AE, et al. Among authors: venturini c. PLoS One. 2014 Aug 5;9(8):e104163. doi: 10.1371/journal.pone.0104163. eCollection 2014. PLoS One. 2014. PMID: 25093588 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. Among authors: venturini c. 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.
169 results