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Issue Date
Title
Author(s)
2012
A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability
Huang, L.
;
Poke, G.
;
Gecz, J.
;
Gibson, K.
2010
ARX spectrum disorders: Making inroads into the molecular pathology
Shoubridge, C.
;
Fullston, T.
;
Gecz, J.
2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity
Hirata, H.
;
McMichael, G.
;
Haan, E.
;
MacLennan, A.
;
Yap, T.
;
Nguyen, L.
;
Shaw, M.
;
Gecz, J.
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.
2012
BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down Syndrome patients
Tlili, A.
;
Hoischen, A.
;
Ripoll, C.
;
Benabou, E.
;
Badel, A.
;
Ronan, A.
;
Touraine, R.
;
Grattau, Y.
;
Stora, S.
;
Van Bon, B.
;
de Vries, B.
;
Menten, B.
;
Bockaert, N.
;
Gecz, J.
;
Antonarakis, S.
;
Campion, D.
;
Potier, M.
;
Blehaut, H.
;
Delabar, J.
;
Janel, N.
2012
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1
Barnett, C.
;
Mencel, J.
;
Gecz, J.
;
Kirwin, S.
;
Waters, W.
;
Vinette, K.
;
Uppill, M.
;
Nicholl, J.
2011
Inherited Balanced Translocation t(9;17)(q33.2;q25.3) Concomitant With a 16p13.1 Duplication in a Patient With Schizophrenia
Fullston, T.
;
Gabb, B.
;
Callen, D.
;
Ullmann, R.
;
Woollatt, E.
;
Bain, S.
;
Ropers, H.
;
Cooper, M.
;
Chandler, D.
;
Carter, K.
;
Jablensky, A.
;
Kalaydjieva, L.
;
Gecz, J.
2015
Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability
Grozeva, D.
;
Carss, K.
;
Spasic-Boskovic, O.
;
Tejada, M.
;
Gecz, J.
;
Shaw, M.
;
Corbett, M.
;
Haan, E.
;
Thompson, E.
;
Friend, K.
;
Hussain, Z.
;
Hackett, A.
;
Field, M.
;
Renieri, A.
;
Stevenson, R.
;
Schwartz, C.
;
Floyd, J.
;
Bentham, J.
;
Cosgrove, C.
;
Keavney, B.
;
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.
2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Jolly, L.
;
Nguyen, L.
;
Domingo, D.
;
Sun, Y.
;
Barry, S.
;
Hancarova, M.
;
Plevova, P.
;
Vlckova, M.
;
Havlovicova, M.
;
Kalscheuer, V.
;
Graziano, C.
;
Pippucci, T.
;
Bonora, E.
;
Sedlacek, Z.
;
Gecz, J.
Discover
Author
13
Shoubridge, C.
12
Haan, E.
11
Hackett, A.
10
Corbett, M.
10
Nguyen, L.
8
Field, M.
8
Shaw, M.
7
et al.
7
Raynaud, M.
6
Chelly, J.
.
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Subject
33
Humans
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22
Female
18
Mutation
15
Animals
13
Intellectual Disability
12
Mice
11
Child
10
Phenotype
9
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