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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
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
Child Health CheckPoint: cohort summary and methodology of a physical health and biospecimen module for the Longitudinal Study of Australian Children
Clifford, S.A.
;
Davies, S.
;
Wake, M.
;
Azzopardi, P.S.
;
Baur, L.A.
;
Burgner, D.P.
;
Carlin, J.B.
;
Cheung, M.
;
Dwyer, T.
;
Edwards, B.
;
Ellul, S.
;
Gillespie, A.N.
;
Gold, L.
;
Grobler, A.C.
;
Kerr, J.A.
;
Lycett, K.
;
Lange, K.
;
Mensah, F.K.
;
Olds, T.S.
;
Ranganathan, S.
;
et al.
2019
GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI
Alves, A.C.
;
De Silva, N.M.G.
;
Karhunen, V.
;
Sovio, U.
;
Das, S.
;
Rob Taal, H.
;
Warrington, N.M.
;
Lewin, A.M.
;
Kaakinen, M.
;
Cousminer, D.L.
;
Thiering, E.
;
Timpson, N.J.
;
Bond, T.A.
;
Lowry, E.
;
Brown, C.D.
;
Estivill, X.
;
Lindi, V.
;
Bradfield, J.P.
;
Geller, F.
;
Speed, D.
;
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.
2018
Maternal smoking during pregnancy and offspring overweight: is there a dose-response relationship? An individual patient data meta-analysis
Albers, L.
;
Sobotzki, C.
;
Kuß, O.
;
Ajslev, T.
;
Batista, R.
;
Bettiol, H.
;
Brabin, B.
;
Buka, S.
;
Cardoso, V.
;
Clifton, V.
;
Devereux, G.
;
Gilman, S.
;
Grzeskowiak, L.
;
Heinrich, J.
;
Hummel, S.
;
Jacobsen, G.
;
Jones, G.
;
Koshy, G.
;
Morgen, C.
;
Oken, E.
;
et al.
2015
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M.
;
Montani, C.
;
Lebrun, N.
;
Gritti, L.
;
Martin, C.
;
Seminatore-Nole, C.
;
Toussaint, A.
;
Moreno, S.
;
Poirier, K.
;
Dorseuil, O.
;
Chelly, J.
;
Hackett, A.
;
Gecz, J.
;
Bieth, E.
;
Faudet, A.
;
Heron, D.
;
Kooy, R.
;
Loeys, B.
;
Humeau, Y.
;
Sala, C.
;
et al.
2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
Friez, M.
;
Brooks, S.
;
Stevenson, R.
;
Field, M.
;
Basehore, M.
;
Adès, L.
;
Sebold, C.
;
Mcgee, S.
;
Saxon, S.
;
Skinner, C.
;
Craig, M.
;
Murray, L.
;
Simensen, R.
;
Yap, Y.
;
Shaw, M.
;
Gardner, A.
;
Corbett, M.
;
Kumar, R.
;
Bosshard, M.
;
Van Loon, B.
;
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.
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.
Discover
Author
4
Gecz, J.
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.
.
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Subject
20
Female
16
Adolescent
15
Child, Preschool
14
Young Adult
13
Middle Aged
10
Infant
9
Infant, Newborn
7
Mutation
6
Aged
5
Intellectual Disability
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