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Issue Date
Title
Author(s)
2019
Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females
Jackson, M.R.
;
Loring, K.E.
;
Homan, C.C.
;
Thai, H.N.
;
Määttänen, L.
;
Arvio, M.
;
Jarvela, I.
;
Shaw, M.
;
Gardner, A.
;
Gecz, J.
;
Shoubridge, C.
2015
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene
Ishibashi, M.
;
Manning, E.
;
Shoubridge, C.
;
Krecsmarik, M.
;
Hawkins, T.
;
Giacomotto, J.
;
Zhao, T.
;
Mueller, T.
;
Bader, P.
;
Cheung, S.
;
Stankiewicz, P.
;
Bain, N.
;
Hackett, A.
;
Reddy, C.
;
Mechaly, A.
;
Peers, B.
;
Wilson, S.
;
Lenhard, B.
;
Bally-Cuif, L.
;
Gecz, J.
;
et al.
2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Huang, L.
;
Jolly, L.
;
Willis-Owen, S.
;
Gardner, A.
;
Sharma, R.
;
Douglas, E.
;
Shoubridge, C.
;
Wieczorek, D.
;
Tzschach, A.
;
Cohen, M.
;
Hackett, A.
;
Field, M.
;
Froyen, G.
;
Hu, H.
;
Haas, S.
;
Ropers, H.
;
Kalscheuer, V.
;
Corbett, M.
;
Gecz, J.
2014
Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation
Lee, K.
;
Mattiske, T.
;
Kitamura, K.
;
Gecz, J.
;
Shoubridge, C.
2016
Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders
Moey, C.
;
Hinze, S.
;
Brueton, L.
;
Morton, J.
;
McMullan, D.
;
Kamien, B.
;
Barnett, C.
;
Brunetti-Pierri, N.
;
Nicholl, J.
;
Gecz, J.
;
Shoubridge, C.
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Author
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Gardner, A.
2
Hackett, A.
1
Arvio, M.
1
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1
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1
Bally-Cuif, L.
1
Barnett, C.
1
Brueton, L.
1
Brunetti-Pierri, N.
1
Cheung, S.
.
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Intellectual Disability
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3
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3
Transcription Factors
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Brain
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Gene Expression Regulation, Devel...
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Guanine Nucleotide Exchange Factors
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