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Issue Date
Title
Author(s)
2019
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Corbett, M.A.
;
Kroes, T.
;
Veneziano, L.
;
Bennett, M.F.
;
Florian, R.
;
Schneider, A.L.
;
Coppola, A.
;
Licchetta, L.
;
Franceschetti, S.
;
Suppa, A.
;
Wenger, A.
;
Mei, D.
;
Pendziwiat, M.
;
Kaya, S.
;
Delledonne, M.
;
Straussberg, R.
;
Xumerle, L.
;
Regan, B.
;
Crompton, D.
;
van Rootselaar, A.-F.
;
et al.
2019
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
Guo, H.
;
Li, Y.
;
Shen, L.
;
Wang, T.
;
Jia, X.
;
Liu, L.
;
Xu, T.
;
Ou, M.
;
Hoekzema, K.
;
Wu, H.
;
Gillentine, M.A.
;
Liu, C.
;
Ni, H.
;
Peng, P.
;
Zhao, R.
;
Zhang, Y.
;
Phornphutkul, C.
;
Stegmann, A.P.A.
;
Prada, C.E.
;
Hopkin, R.J.
;
et al.
2019
Genomic subtyping and therapeutic targeting of acute erythroleukemia
Iacobucci, I.
;
Wen, J.
;
Meggendorfer, M.
;
Choi, J.K.
;
Shi, L.
;
Pounds, S.B.
;
Carmichael, C.L.
;
Masih, K.E.
;
Morris, S.M.
;
Lindsley, R.C.
;
Janke, L.J.
;
Alexander, T.B.
;
Song, G.
;
Qu, C.
;
Li, Y.
;
Payne-Turner, D.
;
Tomizawa, D.
;
Kiyokawa, N.
;
Valentine, M.
;
Valentine, V.
;
et al.
2019
Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelination
Tea, F.
;
Lopez, J.A.
;
Ramanathan, S.
;
Merheb, V.
;
Lee, F.X.Z.
;
Zou, A.
;
Pilli, D.
;
Patrick, E.
;
van der Walt, A.
;
Monif, M.
;
Tantsis, E.M.
;
Yiu, E.M.
;
Vucic, S.
;
Henderson, A.P.D.
;
Fok, A.
;
Fraser, C.L.
;
Lechner-Scott, J.
;
Reddel, S.W.
;
Broadley, S.
;
Barnett, M.H.
;
et al.
2011
Association between common variation at the FTO locus and changes in body mass index from infancy to late childhood: the complex nature of genetic association through growth and development
Sovio, U.
;
Mook-Kanamori, D.
;
Warrington, N.
;
Lawrence, R.
;
Briollais, L.
;
Palmer, C.
;
Cecil, J.
;
Sandling, J.
;
Syvanen, A.
;
Kaakinen, M.
;
Beilin, L.
;
Millwood, I.
;
Bennett, A.
;
Laitneen, J.
;
Pouta, A.
;
Molitor, J.
;
Smith, G.
;
Ben-Shlomo, Y.
;
Jaddoe, V.
;
Palmer, L.
;
et al.
;
Gibson, G.
2013
Identification Of KLHL41 mutations implicates BTB-Kelch-Mediated Ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy
Gupta, V.
;
Ravenscroft, G.
;
Shaheen, R.
;
Todd, E.
;
Swanson, L.
;
Shiina, M.
;
Ogata, K.
;
Hsu, C.
;
Clarke, N.
;
Darras, B.
;
Farrar, M.
;
Hashem, A.
;
Manton, N.
;
Muntoni, F.
;
North, K.
;
Sandaradura, S.
;
Nishino, I.
;
Hayashi, Y.
;
Sewry, C.
;
Thompson, E.
;
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
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.
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.
Discover
Author
4
Vos, T.
3
Anderson, H.
3
Andrews, K.
3
Flaxman, A.
3
Shibuya, K.
2
Abdalla, S.
2
Aboyans, V.
2
Abraham, J.
2
Ackerman, I.
2
Aggarwal, R.
.
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