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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
Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia
Gorman, K.M.
;
Meyer, E.
;
Grozeva, D.
;
Spinelli, E.
;
McTague, A.
;
Sanchis-Juan, A.
;
Carss, K.J.
;
Bryant, E.
;
Reich, A.
;
Schneider, A.L.
;
Pressler, R.M.
;
Simpson, M.A.
;
Debelle, G.D.
;
Wassmer, E.
;
Morton, J.
;
Sieciechowicz, D.
;
Jan-Kamsteeg, E.
;
Paciorkowski, A.R.
;
King, M.D.
;
Cross, J.H.
;
et al.
2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
Whalen, S.
;
Shaw, M.
;
Mignot, C.
;
Héron, D.
;
Bastaraud, S.C.
;
Walti, C.C.
;
Liebelt, J.
;
Elmslie, F.
;
Yap, P.
;
Hurst, J.
;
Forsythe, E.
;
Kirmse, B.
;
Ozmore, J.
;
Spinelli, A.M.
;
Calabrese, O.
;
de Villemeur, T.B.
;
Tabet, A.C.
;
Levy, J.
;
Guet, A.
;
Kossorotoff, M.
;
et al.
2020
Genome sequencing in persistently unsolved white matter disorders
Helman, G.
;
Lajoie, B.R.
;
Crawford, J.
;
Takanohashi, A.
;
Walkiewicz, M.
;
Dolzhenko, E.
;
Gross, A.M.
;
Gainullin, V.G.
;
Bent, S.J.
;
Jenkinson, E.M.
;
Ferdinandusse, S.
;
Waterham, H.R.
;
Dorboz, I.
;
Bertini, E.
;
Miyake, N.
;
Wolf, N.I.
;
Abbink, T.E.M.
;
Kirwin, S.M.
;
Tan, C.M.
;
Hobson, G.M.
;
et al.
Discover
Author
2
Schneider, A.L.
1
Abbink, T.E.M.
1
Bastaraud, S.C.
1
Bennett, M.F.
1
Bent, S.J.
1
Bertini, E.
1
Bryant, E.
1
Calabrese, O.
1
Carss, K.J.
1
Coppola, A.
.
next >
Subject
5
Female
2
Adult
2
Phenotype
2
Synaptic Transmission
2
Young Adult
1
Animals
1
Autistic Disorder
1
Calcium
1
Calcium Channels, N-Type
1
Care4Rare Canada Consortium
.
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Date issued
1
2021
1
2020
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2019