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Issue Date
Title
Author(s)
2017
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations
Corbett, M.
;
Turner, S.
;
Gardner, A.
;
Silver, J.
;
Stankovich, J.
;
Leventer, R.
;
Derry, C.
;
Carroll, R.
;
Ha, T.
;
Scheffer, I.
;
Bahlo, M.
;
Jackson, G.
;
Mackey, D.
;
Berkovic, S.
;
Gecz, J.
2020
Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion
Carroll, R.
;
Shaw, M.
;
Arvio, M.
;
Gardner, A.
;
Kumar, R.
;
Hodgson, B.
;
Heron, S.
;
McKenzie, F.
;
Järvelä, I.
;
Gecz, J.
2020
Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaics
Gecz, J.
;
Thomas, P.Q.
2013
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders
Nguyen, L.
;
Kim, H.
;
Rosenfeld, J.
;
Shen, Y.
;
Gusella, J.
;
Lacassie, Y.
;
Layman, L.
;
Shaffer, L.
;
Gecz, J.
2010
Great expectations: using massively parallel sequencing to solve inherited disorders
Corbett, M.
;
Gecz, J.
2018
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Jansen, S.
;
Hoischen, A.
;
Coe, B.
;
Carvill, G.
;
van Esch, H.
;
Bosch, D.
;
Andersen, U.
;
Baker, C.
;
Bauters, M.
;
Bernier, R.
;
van Bon, B.
;
Claahsen-van der Grinten, H.
;
Gecz, J.
;
Gilissen, C.
;
Grillo, L.
;
Hackett, A.
;
Kleefstra, T.
;
Koolen, D.
;
Kvarnung, M.
;
Larsen, M.
;
et al.
2018
Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism
Van Eyk, C.
;
Corbett, M.
;
Gardner, A.
;
Van Bon, B.
;
Broadbent, J.
;
Harper, K.
;
MacLennan, A.
;
Gecz, J.
Discover
Author
3
Corbett, M.
3
Gardner, A.
2
Carroll, R.
1
Andersen, U.
1
Arvio, M.
1
Bahlo, M.
1
Baker, C.
1
Bauters, M.
1
Berkovic, S.
1
Bernier, R.
.
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Subject
1
Animals
1
Autism Spectrum Disorder
1
Cadherins
1
Case-Control Studies
1
Cell Line
1
Cerebral Palsy
1
Codon, Nonsense
1
Cohort Studies
1
COL18A1
1
Computational Biology
.
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