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Page 1
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
Perry JR, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C, Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T, Cousminer DL, Feenstra B, Franceschini N, Ganna A, Johnson AD, Kjellqvist S, Lunetta KL, McMahon G, Nolte IM, Paternoster L, Porcu E, Smith AV, Stolk L, Teumer A, Tšernikova N, Tikkanen E, Ulivi S, Wagner EK, Amin N, Bierut LJ, Byrne EM, Hottenga JJ, Koller DL, Mangino M, Pers TH, Yerges-Armstrong LM, Zhao JH, Andrulis IL, Anton-Culver H, Atsma F, Bandinelli S, Beckmann MW, Benitez J, Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H, Buring JE, Chang-Claude J, Chanock S, Chen J, Chenevix-Trench G, Collée JM, Couch FJ, Couper D, Coveillo AD, Cox A, Czene K, D'adamo AP, Smith GD, De Vivo I, Demerath EW, Dennis J, Devilee P, Dieffenbach AK, Dunning AM, Eiriksdottir G, Eriksson JG, Fasching PA, Ferrucci L, Flesch-Janys D, Flyger H, Foroud T, Franke L, Garcia ME, García-Closas M, Geller F, de Geus EE, Giles GG, Gudbjartsson DF, Gudnason V, Guénel P, Guo S, Hall P, Hamann U, Haring R, Hartman CA, Heath AC, Hofman A, Hooning MJ, Hopper JL, Hu FB, Hunter DJ, Karasik D, Kiel DP, Knight JA, Kosma VM, Kutalik Z, Lai S, Lambrechts D, Lindbl… See abstract for full author list ➔ Perry JR, et al. Among authors: cousminer dl. Nature. 2014 Oct 2;514(7520):92-97. doi: 10.1038/nature13545. Epub 2014 Jul 23. Nature. 2014. PMID: 25231870 Free PMC article.
Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes.
Bradfield JP, Kember RL, Ulrich A, Balkiyarova Z, Alyass A, Aris IM, Bell JA, Broadaway KA, Chen Z, Chai JF, Davies NM, Fernandez-Orth D, Bustamante M, Fore R, Ganguli A, Heiskala A, Hottenga JJ, Íñiguez C, Kobes S, Leinonen J, Lowry E, Lyytikainen LP, Mahajan A, Pitkänen N, Schnurr TM, Have CT, Strachan DP, Thiering E, Vogelezang S, Wade KH, Wang CA, Wong A, Holm LA, Chesi A, Choong C, Cruz M, Elliott P, Franks S, Frithioff-Bøjsøe C, Gauderman WJ, Glessner JT, Gilsanz V, Griesman K, Hanson RL, Kaakinen M, Kalkwarf H, Kelly A, Kindler J, Kähönen M, Lanca C, Lappe J, Lee NR, McCormack S, Mentch FD, Mitchell JA, Mononen N, Niinikoski H, Oken E, Pahkala K, Sim X, Teo YY, Baier LJ, van Beijsterveldt T, Adair LS, Boomsma DI, de Geus E, Guxens M, Eriksson JG, Felix JF, Gilliland FD, Biobank PM, Hansen T, Hardy R, Hivert MF, Holm JC, Jaddoe VWV, Järvelin MR, Lehtimäki T, Mackey DA, Meyre D, Mohlke KL, Mykkänen J, Oberfield S, Pennell CE, Perry JRB, Raitakari O, Rivadeneira F, Saw SM, Sebert S, Shepherd JA, Standl M, Sørensen TIA, Timpson NJ, Torrent M, Willemsen G, Hypponen E, Power C; Early Growth Genetics Consortium; McCarthy MI, Freathy RM, Widén E, Hakonarson H, Prokopenko I, Voight … See abstract for full author list ➔ Bradfield JP, et al. Among authors: cousminer dl. Genome Biol. 2024 Jan 16;25(1):22. doi: 10.1186/s13059-023-03136-z. Genome Biol. 2024. PMID: 38229171 Free PMC article.
Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
Kentistou KA, Kaisinger LR, Stankovic S, Vaudel M, de Oliveira EM, Messina A, Walters RG, Liu X, Busch AS, Helgason H, Thompson DJ, Santon F, Petricek KM, Zouaghi Y, Huang-Doran I, Gudbjartsson DF, Bratland E, Lin K, Gardner EJ, Zhao Y, Jia R, Terao C, Riggan M, Bolla MK, Yazdanpanah M, Yazdanpanah N, Bradfield JP, Broer L, Campbell A, Chasman DI, Cousminer DL, Franceschini N, Franke LH, Girotto G, He C, Järvelin MR, Joshi PK, Kamatani Y, Karlsson R, Luan J, Lunetta KL, Mägi R, Mangino M, Medland SE, Meisinger C, Noordam R, Nutile T, Concas MP, Polašek O, Porcu E, Ring SM, Sala C, Smith AV, Tanaka T, van der Most PJ, Vitart V, Wang CA, Willemsen G, Zygmunt M, Ahearn TU, Andrulis IL, Anton-Culver H, Antoniou AC, Auer PL, Barnes CL, Beckmann MW, Berrington A, Bogdanova NV, Bojesen SE, Brenner H, Buring JE, Canzian F, Chang-Claude J, Couch FJ, Cox A, Crisponi L, Czene K, Daly MB, Demerath EW, Dennis J, Devilee P, Vivo I, Dörk T, Dunning AM, Dwek M, Eriksson JG, Fasching PA, Fernandez-Rhodes L, Ferreli L, Fletcher O, Gago-Dominguez M, García-Closas M, García-Sáenz JA, González-Neira A, Grallert H, Guénel P, Haiman CA, Hall P, Hamann U, Hakonarson H, Hart RJ, Hickey M, Hooning M… See abstract for full author list ➔ Kentistou KA, et al. Among authors: cousminer dl. medRxiv [Preprint]. 2023 Jun 20:2023.06.14.23291322. doi: 10.1101/2023.06.14.23291322. medRxiv. 2023. PMID: 37503126 Free PMC article. Preprint.
Using linear and natural cubic splines, SITAR, and latent trajectory models to characterise nonlinear longitudinal growth trajectories in cohort studies.
Elhakeem A, Hughes RA, Tilling K, Cousminer DL, Jackowski SA, Cole TJ, Kwong ASF, Li Z, Grant SFA, Baxter-Jones ADG, Zemel BS, Lawlor DA. Elhakeem A, et al. Among authors: cousminer dl. BMC Med Res Methodol. 2022 Mar 15;22(1):68. doi: 10.1186/s12874-022-01542-8. BMC Med Res Methodol. 2022. PMID: 35291947 Free PMC article.
Cis-regulatory architecture of human ESC-derived hypothalamic neuron differentiation aids in variant-to-gene mapping of relevant complex traits.
Pahl MC, Doege CA, Hodge KM, Littleton SH, Leonard ME, Lu S, Rausch R, Pippin JA, De Rosa MC, Basak A, Bradfield JP, Hammond RK, Boehm K, Berkowitz RI, Lasconi C, Su C, Chesi A, Johnson ME, Wells AD, Voight BF, Leibel RL, Cousminer DL, Grant SFA. Pahl MC, et al. Among authors: cousminer dl. Nat Commun. 2021 Nov 19;12(1):6749. doi: 10.1038/s41467-021-27001-4. Nat Commun. 2021. PMID: 34799566 Free PMC article.
CYP11B1 variants influence skeletal maturation via alternative splicing.
Grgic O, Gazzara MR, Chesi A, Medina-Gomez C, Cousminer DL, Mitchell JA, Prijatelj V, de Vries J, Shevroja E, McCormack SE, Kalkwarf HJ, Lappe JM, Gilsanz V, Oberfield SE, Shepherd JA, Kelly A, Mahboubi S, Faucz FR, Feelders RA, de Jong FH, Uitterlinden AG, Visser JA, Ghanem LR, Wolvius EB, Hofland LJ, Stratakis CA, Zemel BS, Barash Y, Grant SFA, Rivadeneira F. Grgic O, et al. Among authors: cousminer dl. Commun Biol. 2021 Nov 9;4(1):1274. doi: 10.1038/s42003-021-02774-y. Commun Biol. 2021. PMID: 34754074 Free PMC article.
Large trans-ethnic meta-analysis identifies AKR1C4 as a novel gene associated with age at menarche.
Sarnowski C, Cousminer DL, Franceschini N, Raffield LM, Jia G, Fernández-Rhodes L, Grant SFA, Hakonarson H, Lange LA, Long J, Sofer T, Tao R, Wallace RB, Wong Q, Zirpoli G, Boerwinkle E, Bradfield JP, Correa A, Kooperberg CL, North KE, Palmer JR, Zemel BS, Zheng W, Murabito JM, Lunetta KL. Sarnowski C, et al. Among authors: cousminer dl. Hum Reprod. 2021 Jun 18;36(7):1999-2010. doi: 10.1093/humrep/deab086. Hum Reprod. 2021. PMID: 34021356 Free PMC article.
3D promoter architecture re-organization during iPSC-derived neuronal cell differentiation implicates target genes for neurodevelopmental disorders.
Su C, Argenziano M, Lu S, Pippin JA, Pahl MC, Leonard ME, Cousminer DL, Johnson ME, Lasconi C, Wells AD, Chesi A, Grant SFA. Su C, et al. Among authors: cousminer dl. Prog Neurobiol. 2021 Jun;201:102000. doi: 10.1016/j.pneurobio.2021.102000. Epub 2021 Feb 2. Prog Neurobiol. 2021. PMID: 33545232 Free PMC article.
67 results