Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Bochukova, E."'
Akademický článek
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Autor:
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, Al Turki, S, Anderson, CA, Anney, R, Antony, D, Artigas, MS, Ayub, M, Bala, S, Barrett, JC, Barroso, I, Beales, P, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, PF, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Charlton, R, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, DA, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Curtis, D, Daly, A, Danecek, P, Day, INM, Day-Williams, A, Dominiczak, A, Down, T, Du, Y, Dunham, I, Durbin, R, Edkins, S, Ekong, R, Ellis, P, Evans, DM, Farooqi, IS, Fitzpatrick, DR, Flicek, P, Floyd, J, Foley, AR, Franklin, CS, Futema, M, Gallagher, L, Gaunt, TR, Geihs, M, Geschwind, D, Greenwood, CMT, Griffin, H, Grozeva, D, Guo, X, Gurling, H, Hart, D, Hendricks, AE, Holmans, P, Howie, B, Huang, J, Huang, L, Hubbard, T, Humphries, SE, Hurles, ME, Hysi, P, Jackson, DK, Jamshidi, Y, Joyce, C, Karczewski, KJ, Kaye, J, Keane, T, Kemp, JP, Kennedy, K, Kent, A, Keogh, J, Khawaja, F, van Kogelenberg, M, Kolb-Kokocinski, A, Lachance, G, Langford, C, Lawson, D, Lee, I, Lek, M, Li, R, Li, Y, Liang, J, Lin, H, Liu, R, Lonnqvist, J, Lopes, LR, Lopes, M, MacArthur, DG, Mangino, M, Marchini, J, Marenne, G, Maslen, J, Mathieson, I, McCarthy, S, McGuffin, P, McIntosh, AM, McKechanie, AG, McQuillin, A, Memari, Y, Metrustry, S, Migone, N, Mitchison, HM, Moayyeri, A, Morris, A, Morris, J, Muddyman, D, Muntoni, F, Northstone, K, O'Donovan, MC, O'Rahilly, S, Onoufriadis, A, Oualkacha, K, Owen, MJ, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, JR, Paternoster, L, Paunio, T, Payne, F, Payne, SJ, Perry, JRB, Pietilainen, O, Plagnol, V, Pollitt, RC, Porteous, DJ, Povey, S, Quail, MA, Quaye, L, Raymond, FL, Rehnstrom, K, Richards, JB, Ridout, CK, Ring, S, Ritchie, GRS, Roberts, N, Robinson, RL, Savage, DB, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Scott, RH, Semple, RK, Serra, E, Sharp, SI, Shaw, A, Shihab, HA, Shin, S-Y, Skuse, D, Small, KS, Smee, C, Smith, BH, Soranzo, N, Southam, L, Spasic-Boskovic, O, Spector, TD, St Clair, D, Stalker, J, Stevens, E, Sun, J, Surdulescu, G, Suvisaari, J, Syrris, P, Taylor, R, Tian, J, Tobin, MD, Valdes, AM, Vandersteen, AM, Vijayarangakannan, P, Visscher, PM, Wain, LV, Walters, JTR, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whyte, T, Williams, HJ, Williamson, KA, Wilson, C, Wilson, SG, Wong, K, Xu, C, Yang, J, Zhang, F, Zhang, P, Zheng, H-F, Smith, GD, Fisher, SE, Wilson, JF, Cole, TJ, Fernandez-Orth, D, Bonnelykke, K, Bisgaard, H, Pennell, CE, Jaddoe, VWV, Dedoussis, G, Timpson, N, Zeggini, E, Vitart, V, St Pourcain, B, UK10K Consortium
Publikováno v:
Nature Communications, 10:357. Nature Publishing Group
Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences shaping these traits during the transition from childhood to adul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6520f507a01a43d0aeb27c426c74275b
https://orca.cardiff.ac.uk/id/eprint/128295/1/s41467-018-07863-x.pdf
https://orca.cardiff.ac.uk/id/eprint/128295/1/s41467-018-07863-x.pdf
Akademický článek
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Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity
Autor:
Hendricks, A., Bochukova, E., Marenne, G., Keogh, ., Atanassova, N., Bounds, R., Wheeler, E., Mistry, V., Henning, E., Körner, A., Muddyman, D., McCarthy, S., Hinney, A., Hebebrand, J., Scott, R., Langenberg, C., Wareham, N., Surendran, P., Howson, J., Butterworth, A., Danesh, J., Børge G , N., Nielse, S., Afzal, S., Papadia, S., Ashford, S., Garg, S., Palomino, R., Kwasniewska, A., Tachmazidou, I., O’Rahilly, S., Zeggini, E., Barroso, I., Farooqi, I.
Publikováno v:
Scientific Reports
Obesity is a genetically heterogeneous disorder. Using targeted and whole-exome sequencing, we studied 32 human and 87 rodent obesity genes in 2,548 severely obese children and 1,117 controls. We identified 52 variants contributing to obesity in 2% o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1874::7f09c8849bc468821a977875d1dd0f4a
https://hdl.handle.net/11858/00-001M-0000-002E-7A04-711858/00-001M-0000-002E-7A56-F
https://hdl.handle.net/11858/00-001M-0000-002E-7A04-711858/00-001M-0000-002E-7A56-F
Autor:
Huang, J, Howie, B, Mccarthy, S, Memari, Y, Walter, K, Min, Jl, Danecek, P, Malerba, Giovanni, Trabetti, Elisabetta, Zheng, Hf, Gambaro, G, Richards, Jb, Durbin, R, Timpson, Nj, Marchini, J, Soranzo, N, Al Turki, S, Amuzu, A, Anderson, Ca, Anney, R, Antony, D, Artigas, Ms, Ayub, M, Bala, S, Barrett, Jc, Barroso, I, Beales, P, Benn, M, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, Pf, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Casas, Jp, Chambers, Jc, Charlton, R, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, Da, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Curtis, D, Daly, A, Day, In, Day Williams, A, Dedoussis, G, Down, T, Du, Y, van Duijn, Cm, Dunham, I, Edkins, S, Ekong, R, Ellis, P, Evans, Dm, Farooqi, Is, Fitzpatrick, Dr, Flicek, P, Floyd, J, Foley, Ar, Franklin, Cs, Futema, M, Gallagher, L, Gasparini, P, Gaunt, Tr, Geihs, M, Geschwind, D, Greenwood, C, Griffin, H, Grozeva, D, Guo, X, Gurling, H, Hart, D, Hendricks, Ae, Holmans, P, Huang, L, Hubbard, T, Humphries, Se, Hurles, Me, Hysi, P, Iotchkova, V, Isaacs, A, Jackson, Dk, Jamshidi, Y, Johnson, J, Joyce, C, Karczewski, Kj, Kaye, J, Keane, T, Kemp, Jp, Kennedy, K, Kent, A, Keogh, J, Khawaja, F, Kleber, Me, van Kogelenberg, M, Kolb Kokocinski, A, Kooner, Js, Lachance, G, Langenberg, C, Langford, C, Lawson, D, Lee, I, van Leeuwen, Em, Lek, M, Li, R, Li, Y, Liang, J, Lin, H, Liu, R, Lönnqvist, J, Lopes, Lr, Lopes, M, Luan, J, Macarthur, Dg, Mangino, M, Marenne, G, März, W, Maslen, J, Matchan, A, Mathieson, I, Mcguffin, P, Mcintosh, Am, Mckechanie, Ag, Mcquillin, A, Metrustry, S, Migone, N, Mitchison, Hm, Moayyeri, A, Morris, J, Morris, R, Muddyman, D, Muntoni, F, Nordestgaard, Bg, Northstone, K, O'Donovan, Mc, O'Rahilly, S, Onoufriadis, A, Oualkacha, K, Owen, Mj, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, Jr, Paternoster, L, Paunio, T, Payne, F, Payne, Sj, Perry, Jr, Pietilainen, O, Plagnol, V, Pollitt, Rc, Povey, S, Quail, Ma, Quaye, L, Raymond, L, Rehnström, K, Ridout, Ck, Ring, S, Ritchie, Gr, Roberts, N, Robinson, Rl, Savage, Db, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Scott, Rh, Scott, Ra, Semple, Rk, Serra, E, Sharp, Si, Shaw, A, Shihab, Ha, Shin, Sy, Skuse, D, Small, Ks, Smee, C, Smith, Gd, Southam, L, Spasic Boskovic, O, Spector, Td, St Clair, D, St Pourcain, B, Stalker, J, Stevens, E, Sun, J, Surdulescu, G, Suvisaari, J, Syrris, P, Tachmazidou, I, Taylor, R, Tian, J, Tobin, Md, Toniolo, D, Traglia, M, Tybjaerg Hansen, A, Valdes, Am, Vandersteen, Am, Varbo, A, Vijayarangakannan, P, Visscher, Pm, Wain, Lv, Walters, Jt, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whincup, P, Whyte, T, Williams, Hj, Williamson, Ka, Wilson, C, Wilson, Sg, Wong, K, Xu, C, Yang, J, Zaza, Gianluigi, Zeggini, E, Zhang, F, Zhang, P, Zhang, W.
Publikováno v:
Nature Communications, 6, 8111
Nature Communications, 6, pp. 8111
Nature Communications
Huang, J, Howie, B, McCarthy, S, Memari, Y, Walter, K, Min, J L, Danecek, P, Malerba, G, Trabetti, E, Zheng, H-F, Gambaro, G, Richards, J B, Durbin, R, Timpson, N J & Marchini, J & Soranzo, N 2015, ' Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel ', Nature Communications, vol. 6, pp. 8111 . https://doi.org/10.1038/ncomms9111
Huang, J, Howie, B, Mccarthy, S, Memari, Y, Walter, K, Min, J L, Danecek, P, Malerba, G, Trabetti, E, Zheng, H, Al Turki, S, Amuzu, A, Anderson, C A, Anney, R, Antony, D, Artigas, M S, Ayub, M, Bala, S, Barrett, J C, Barroso, I, Beales, P, Benn, M, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, P F, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Pablo Casas, J, Chambers, J C, Charlton, R, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, D A, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Curtis, D, Daly, A, Day, I N M, Day-williams, A, Dedoussis, G, Down, T, Du, Y, Van Duijn, C M, Dunham, I, Edkins, S, Ekong, R, Ellis, P, Evans, D M, Farooqi, I S, Fitzpatrick, D R, Flicek, P, Floyd, J, Foley, A R, Franklin, C S, Futema, M, Gallagher, L, Gasparini, P, Gaunt, T R, Geihs, M, Geschwind, D, Greenwood, C, Griffin, H, Grozeva, D, Guo, X, Guo, X, Gurling, H, Hart, D, Hendricks, A E, Holmans, P, Huang, L, Hubbard, T, Humphries, S E, Hurles, M E, Hysi, P, Iotchkova, V, Isaacs, A, Jackson, D K, Jamshidi, Y, Johnson, J, Joyce, C, Karczewski, K J, Kaye, J, Keane, T, Kemp, J P, Kennedy, K, Kent, A, Keogh, J, Khawaja, F, Kleber, M E, Van Kogelenberg, M, Kolb-kokocinski, A, Kooner, J S, Lachance, G, Langenberg, C, Langford, C, Lawson, D, Lee, I, Van Leeuwen, E M, Lek, M, Li, R, Li, Y, Liang, J, Lin, H, Liu, R, Lönnqvist, J, Lopes, L R, Lopes, M, Luan, J, Macarthur, D G, Mangino, M, Marenne, G, März, W, Maslen, J, Matchan, A, Mathieson, I, Mcguffin, P, Mcintosh, A M, Mckechanie, A G, Mcquillin, A, Metrustry, S, Migone, N, Mitchison, H M, Moayyeri, A, Morris, J, Morris, R, Muddyman, D, Muntoni, F, Nordestgaard, B, Northstone, K, O'donovan, M C, O'rahilly, S, Onoufriadis, A, Oualkacha, K, Owen, M J, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, J R, Paternoster, L, Paunio, T, Payne, F, Payne, S J, Perry, J R B, Pietilainen, O, Plagnol, V, Pollitt, R C, Povey, S, Quail, M A, Quaye, L, Raymond, L, Rehnström, K, Ridout, C K, Ring, S, Ritchie, G R S, Roberts, N, Robinson, R L, Savage, D B, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Scott, R H, Scott, R A, Semple, R K, Serra, E, Sharp, S I, Shaw, A, Shihab, H A, Shin, S, Skuse, D, Small, K S, Smee, C, Smith, G D, Southam, L, Spasic-boskovic, O, Spector, T D, St Clair, D, St Pourcain, B, Stalker, J, Stevens, E, Sun, J, Surdulescu, G, Suvisaari, J, Syrris, P, Tachmazidou, I, Taylor, R, Tian, J, Tobin, M D, Toniolo, D, Traglia, M, Tybjærg-Hansen, A, Valdes, A M, Vandersteen, A M, Varbo, A, Vijayarangakannan, P, Visscher, P M, Wain, L V, Walters, J T R, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whincup, P, Whyte, T, Williams, H J, Williamson, K A, Wilson, C, Wilson, S G, Wong, K, Xu, C, Yang, J, Zaza, G, Zeggini, E, Zhang, F, Zhang, P, Zhang, W, Gambaro, G, Richards, J B, Durbin, R, Timpson, N J, Marchini, J & Soranzo, N 2015, ' Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel ', Nature Communications, vol. 6, 8111 . https://doi.org/10.1038/ncomms9111
Nature Communications, 6, pp. 8111
Nature Communications
Huang, J, Howie, B, McCarthy, S, Memari, Y, Walter, K, Min, J L, Danecek, P, Malerba, G, Trabetti, E, Zheng, H-F, Gambaro, G, Richards, J B, Durbin, R, Timpson, N J & Marchini, J & Soranzo, N 2015, ' Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel ', Nature Communications, vol. 6, pp. 8111 . https://doi.org/10.1038/ncomms9111
Huang, J, Howie, B, Mccarthy, S, Memari, Y, Walter, K, Min, J L, Danecek, P, Malerba, G, Trabetti, E, Zheng, H, Al Turki, S, Amuzu, A, Anderson, C A, Anney, R, Antony, D, Artigas, M S, Ayub, M, Bala, S, Barrett, J C, Barroso, I, Beales, P, Benn, M, Bentham, J, Bhattacharya, S, Birney, E, Blackwood, D, Bobrow, M, Bochukova, E, Bolton, P F, Bounds, R, Boustred, C, Breen, G, Calissano, M, Carss, K, Pablo Casas, J, Chambers, J C, Charlton, R, Chatterjee, K, Chen, L, Ciampi, A, Cirak, S, Clapham, P, Clement, G, Coates, G, Cocca, M, Collier, D A, Cosgrove, C, Cox, T, Craddock, N, Crooks, L, Curran, S, Curtis, D, Daly, A, Day, I N M, Day-williams, A, Dedoussis, G, Down, T, Du, Y, Van Duijn, C M, Dunham, I, Edkins, S, Ekong, R, Ellis, P, Evans, D M, Farooqi, I S, Fitzpatrick, D R, Flicek, P, Floyd, J, Foley, A R, Franklin, C S, Futema, M, Gallagher, L, Gasparini, P, Gaunt, T R, Geihs, M, Geschwind, D, Greenwood, C, Griffin, H, Grozeva, D, Guo, X, Guo, X, Gurling, H, Hart, D, Hendricks, A E, Holmans, P, Huang, L, Hubbard, T, Humphries, S E, Hurles, M E, Hysi, P, Iotchkova, V, Isaacs, A, Jackson, D K, Jamshidi, Y, Johnson, J, Joyce, C, Karczewski, K J, Kaye, J, Keane, T, Kemp, J P, Kennedy, K, Kent, A, Keogh, J, Khawaja, F, Kleber, M E, Van Kogelenberg, M, Kolb-kokocinski, A, Kooner, J S, Lachance, G, Langenberg, C, Langford, C, Lawson, D, Lee, I, Van Leeuwen, E M, Lek, M, Li, R, Li, Y, Liang, J, Lin, H, Liu, R, Lönnqvist, J, Lopes, L R, Lopes, M, Luan, J, Macarthur, D G, Mangino, M, Marenne, G, März, W, Maslen, J, Matchan, A, Mathieson, I, Mcguffin, P, Mcintosh, A M, Mckechanie, A G, Mcquillin, A, Metrustry, S, Migone, N, Mitchison, H M, Moayyeri, A, Morris, J, Morris, R, Muddyman, D, Muntoni, F, Nordestgaard, B, Northstone, K, O'donovan, M C, O'rahilly, S, Onoufriadis, A, Oualkacha, K, Owen, M J, Palotie, A, Panoutsopoulou, K, Parker, V, Parr, J R, Paternoster, L, Paunio, T, Payne, F, Payne, S J, Perry, J R B, Pietilainen, O, Plagnol, V, Pollitt, R C, Povey, S, Quail, M A, Quaye, L, Raymond, L, Rehnström, K, Ridout, C K, Ring, S, Ritchie, G R S, Roberts, N, Robinson, R L, Savage, D B, Scambler, P, Schiffels, S, Schmidts, M, Schoenmakers, N, Scott, R H, Scott, R A, Semple, R K, Serra, E, Sharp, S I, Shaw, A, Shihab, H A, Shin, S, Skuse, D, Small, K S, Smee, C, Smith, G D, Southam, L, Spasic-boskovic, O, Spector, T D, St Clair, D, St Pourcain, B, Stalker, J, Stevens, E, Sun, J, Surdulescu, G, Suvisaari, J, Syrris, P, Tachmazidou, I, Taylor, R, Tian, J, Tobin, M D, Toniolo, D, Traglia, M, Tybjærg-Hansen, A, Valdes, A M, Vandersteen, A M, Varbo, A, Vijayarangakannan, P, Visscher, P M, Wain, L V, Walters, J T R, Wang, G, Wang, J, Wang, Y, Ward, K, Wheeler, E, Whincup, P, Whyte, T, Williams, H J, Williamson, K A, Wilson, C, Wilson, S G, Wong, K, Xu, C, Yang, J, Zaza, G, Zeggini, E, Zhang, F, Zhang, P, Zhang, W, Gambaro, G, Richards, J B, Durbin, R, Timpson, N J, Marchini, J & Soranzo, N 2015, ' Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel ', Nature Communications, vol. 6, 8111 . https://doi.org/10.1038/ncomms9111
Imputing genotypes from reference panels created by whole-genome sequencing (WGS) provides a cost-effective strategy for augmenting the single-nucleotide polymorphism (SNP) content of genome-wide arrays. The UK10K Cohorts project has generated a data
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f95b9da2183aba8a33d77fef6e097ebb
http://hdl.handle.net/2066/153109
http://hdl.handle.net/2066/153109
Akademický článek
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Autor:
Wilkie, A, Bochukova, E, Hansen, R, Taylor, I, Rannan-Eliya, S, Byren, J, Wall, SA, Ramos, L, Venâncio, M, Hurst, J, O'Rourke, A, Williams, L, Seller, A, Lester, T
Publikováno v:
American Journal of Medical Genetics, Part A. 143(16)
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