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Issue Date
Title
Author(s)
2012
A genome-wide association meta-analysis identifies new childhood obesity loci
Bradfield, J.
;
Taal, H.
;
Timpson, N.
;
Scherag, A.
;
Lecoeur, C.
;
Warrington, N.
;
Hypponen, E.
;
Holst, C.
;
Valcarcel, B.
;
Thiering, E.
;
Salem, R.
;
Schumacher, F.
;
Cousminer, D.
;
Sleiman, P.
;
Jianhua, Z.
;
Berkowitz, R.
;
Vimaleswaran, K.
;
Ivonne, J.
;
Pennell, C.
;
Evans, D.
;
et al.
2013
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
Braunlin, E.
;
Rosenfeld, H.
;
Kampmann, C.
;
Johnson, J.
;
Beck, M.
;
Giugliani, R.
;
Guffon, N.
;
Ketteridge, D.
;
Miranda, C.
;
Scarpa, M.
;
Schwartz, I.
;
Teles, E.
;
Wraith, J.
;
Barrios, P.
;
Dias da Silva, E.
;
Kurio, G.
;
Richardson, M.
;
Gildengorin, G.
;
Hopwood, J.
;
Imperiale, M.
;
et al.
2011
Association of genetic loci with glucose levels in childhood and adolescence: a meta-analysis of over 6,000 children
Barker, A.
;
Sharp, S.
;
Timpson, N.
;
Bouatia-Naji, N.
;
Warrington, N.
;
Kanoni, S.
;
Beilin, L.
;
Brage, S.
;
Deloukas, P.
;
Evans, D.
;
Grontved, A.
;
Hassanali, N.
;
Lawlor, D.
;
Lecoeur, C.
;
Loos, R.
;
Lye, S.
;
McCarthy, M.
;
Mori, T.
;
Coumba Ndiaye, N.
;
Newnham, J.
;
et al.
2013
Rare variants in single-minded 1 (SIM1) are associated with severe obesity
Ramachandrappa, S.
;
Raimondo, A.
;
Cali, A.
;
Keogh, J.
;
Henning, E.
;
Saeed, S.
;
Thompson, A.
;
Garg, S.
;
Bochukova, E.
;
Brage, S.
;
Trowse, V.
;
Wheeler, E.
;
Sullivan, A.
;
Dattani, M.
;
Clayton, P.
;
Datta, V.
;
Bruning, J.
;
Wareham, N.
;
O'Rahilly, S.
;
Peet, D.
;
et al.
2019
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
Volpi, S.
;
Cicalese, M.P.
;
Tuijnenburg, P.
;
Tool, A.T.J.
;
Cuadrado, E.
;
Abu-Halaweh, M.
;
Ahanchian, H.
;
Alzyoud, R.
;
Akdemir, Z.C.
;
Barzaghi, F.
;
Blank, A.
;
Boisson, B.
;
Bottino, C.
;
Brigida, I.
;
Caorsi, R.
;
Casanova, J.L.
;
Chiesa, S.
;
Chinn, I.K.
;
Dückers, G.
;
Enders, A.
;
et al.
2016
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Hu, H.
;
Haas, S.
;
Chelly, J.
;
Van Esch, H.
;
Raynaud, M.
;
De Brouwer, A.
;
Weinert, S.
;
Froyen, G.
;
Frints, S.
;
Laumonnier, F.
;
Zemojtel, T.
;
Love, M.
;
Richard, H.
;
Emde, A.
;
Bienek, M.
;
Jensen, C.
;
Hambrock, M.
;
Fischer, U.
;
Langnick, C.
;
Feldkamp, M.
;
et al.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
2010
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies
Elks, C.
;
Perry, J.
;
Sulem, P.
;
Chasman, D.
;
Franceschini, N.
;
He, C.
;
Lunetta, K.
;
Visser, J.
;
Byrne, E.
;
Cousminer, D.
;
Gudbjartsson, D.
;
Esko, T.
;
Feenstra, B.
;
Hottenga, J.
;
Koller, D.
;
Kutalik, Z.
;
Lin, P.
;
Mangino, M.
;
Marongiu, M.
;
McArdle, P.
;
et al.
2012
Death adder envenoming causes neurotoxicity not reversed by antivenom - Australian snakebite project (ASP-16)
Johnston, C.
;
O'Leary, M.
;
Brown, S.
;
Currie, B.
;
Halkidis, L.
;
Whitaker, R.
;
Close, B.
;
Isbister, G.
;
Nagree, Y.
;
Ker, F.
;
Greene, S.
;
Taylor, M.
;
Macrokanis, C.
;
Wilke, G.
;
Coulson, A.
;
Barnes, C.
;
Bonni, R.
;
Whitake, R.
;
Halkidis, L.
;
Isbiste, G.
;
et al.
;
de Silva, J.
2015
TIDEL-II: first-line use of imatinib in CML with early switch to nilotinib for failure to achieve time-dependent molecular targets
Yeung, D.
;
Osborn, M.
;
White, D.
;
Branford, S.
;
Braley, J.
;
Herschtal, A.
;
Kornhauser, M.
;
Issa, S.
;
Hiwase, D.
;
Hertzberg, M.
;
Schwarer, A.
;
Filshie, R.
;
Arthur, C.
;
Kwan, Y.
;
Trotman, J.
;
Forsyth, C.
;
Taper, J.
;
Ross, D.
;
Beresford, J.
;
Tam, C.
;
et al.
Discover
Author
5
Vos, T.
3
Aboyans, V.
3
Anderson, H.
3
Andrews, K.
3
Cousminer, D.
3
Flaxman, A.
3
Naghavi, M.
3
Shibuya, K.
3
Timpson, N.
3
Warrington, N.
.
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Subject
49
Humans
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Female
41
Male
39
Adult
35
Young Adult
28
Child
27
Middle Aged
21
Child, Preschool
14
Infant
13
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