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Page 1
Copy number variation across European populations.
Chen W, Hayward C, Wright AF, Hicks AA, Vitart V, Knott S, Wild SH, Pramstaller PP, Wilson JF, Rudan I, Porteous DJ. Chen W, et al. PLoS One. 2011;6(8):e23087. doi: 10.1371/journal.pone.0023087. Epub 2011 Aug 4. PLoS One. 2011. PMID: 21829696 Free PMC article.
Genetic copy number variation and general cognitive ability.
MacLeod AK, Davies G, Payton A, Tenesa A, Harris SE, Liewald D, Ke X, Luciano M, Lopez LM, Gow AJ, Corley J, Redmond P, McNeill G, Pickles A, Ollier W, Horan M, Starr JM, Pendleton N, Thomson PA, Porteous DJ, Deary IJ. MacLeod AK, et al. Among authors: porteous dj. PLoS One. 2012;7(12):e37385. doi: 10.1371/journal.pone.0037385. Epub 2012 Dec 26. PLoS One. 2012. PMID: 23300510 Free PMC article.
The UK10K project identifies rare variants in health and disease.
UK10K Consortium; Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R, Soranzo N. UK10K Consortium, et al. Nature. 2015 Oct 1;526(7571):82-90. doi: 10.1038/nature14962. Epub 2015 Sep 14. Nature. 2015. PMID: 26367797 Free PMC article.
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits.
Macé A, Tuke MA, Deelen P, Kristiansson K, Mattsson H, Nõukas M, Sapkota Y, Schick U, Porcu E, Rüeger S, McDaid AF, Porteous D, Winkler TW, Salvi E, Shrine N, Liu X, Ang WQ, Zhang W, Feitosa MF, Venturini C, van der Most PJ, Rosengren A, Wood AR, Beaumont RN, Jones SE, Ruth KS, Yaghootkar H, Tyrrell J, Havulinna AS, Boers H, Mägi R, Kriebel J, Müller-Nurasyid M, Perola M, Nieminen M, Lokki ML, Kähönen M, Viikari JS, Geller F, Lahti J, Palotie A, Koponen P, Lundqvist A, Rissanen H, Bottinger EP, Afaq S, Wojczynski MK, Lenzini P, Nolte IM, Sparsø T, Schupf N, Christensen K, Perls TT, Newman AB, Werge T, Snieder H, Spector TD, Chambers JC, Koskinen S, Melbye M, Raitakari OT, Lehtimäki T, Tobin MD, Wain LV, Sinisalo J, Peters A, Meitinger T, Martin NG, Wray NR, Montgomery GW, Medland SE, Swertz MA, Vartiainen E, Borodulin K, Männistö S, Murray A, Bochud M, Jacquemont S, Rivadeneira F, Hansen TF, Oldehinkel AJ, Mangino M, Province MA, Deloukas P, Kooner JS, Freathy RM, Pennell C, Feenstra B, Strachan DP, Lettre G, Hirschhorn J, Cusi D, Heid IM, Hayward C, Männik K, Beckmann JS, Loos RJF, Nyholt DR, Metspalu A, Eriksson JG, Weedon MN, Salomaa V, Franke L, Reymond A, Frayling TM, … See abstract for full author list ➔ Macé A, et al. Among authors: porteous d. Nat Commun. 2017 Sep 29;8(1):744. doi: 10.1038/s41467-017-00556-x. Nat Commun. 2017. PMID: 28963451 Free PMC article.
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ; UK10K consortium; Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bønnelykke K, Bisgaard H, Pennell CE, Jaddoe VWV, Dedoussis G, Timpson N, Zeggini E, Vitart V, St Pourcain B. Haworth S, et al. Nat Commun. 2019 Jan 21;10(1):357. doi: 10.1038/s41467-018-07863-x. Nat Commun. 2019. PMID: 30664637 Free PMC article.
Genome-wide analysis of gene dosage in 24,092 individuals estimates that 10,000 genes modulate cognitive ability.
Huguet G, Schramm C, Douard E, Tamer P, Main A, Monin P, England J, Jizi K, Renne T, Poirier M, Nowak S, Martin CO, Younis N, Knoth IS, Jean-Louis M, Saci Z, Auger M, Tihy F, Mathonnet G, Maftei C, Léveillé F, Porteous D, Davies G, Redmond P, Harris SE, Hill WD, Lemyre E, Schumann G, Bourgeron T, Pausova Z, Paus T, Karama S, Lippe S, Deary IJ, Almasy L, Labbe A, Glahn D, Greenwood CMT, Jacquemont S. Huguet G, et al. Among authors: porteous d. Mol Psychiatry. 2021 Jun;26(6):2663-2676. doi: 10.1038/s41380-020-00985-z. Epub 2021 Jan 7. Mol Psychiatry. 2021. PMID: 33414497 Free PMC article.
Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes.
Huguet G, Renne T, Poulain C, Dubuc A, Kumar K, Kazem S, Engchuan W, Shanta O, Douard E, Proulx C, Jean-Louis M, Saci Z, Mollon J, Schultz LM, Knowles EEM, Cox SR, Porteous D, Davies G, Redmond P, Harris SE, Schumann G, Dumas G, Labbe A, Pausova Z, Paus T, Scherer SW, Sebat J, Almasy L, Glahn DC, Jacquemont S. Huguet G, et al. Among authors: porteous d. Cell Genom. 2024 Dec 11;4(12):100721. doi: 10.1016/j.xgen.2024.100721. Cell Genom. 2024. PMID: 39667348 Free PMC article.
665 results