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Issue Date
Title
Author(s)
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.
2004
Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia
Shaw, M.
;
Gecz, J.
;
McDonough, B.
;
Hodess, A.
;
Harter, D.
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.
2009
A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations
Reish, O.
;
Fullston, T.
;
Regev, M.
;
Heyman, E.
;
Gecz, 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.
2009
A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family
Burdon, K.
;
Durkin, S.
;
Burke, M.
;
Edwards, M.
;
Pater, J.
;
Straga, T.
;
Gecz, J.
;
Liebelt, J.
;
Craig, 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.
Discover
Author
18
Shoubridge, C.
15
Haan, E.
15
Ropers, H.
15
Turner, G.
14
Chelly, J.
14
et al.
14
Kalscheuer, V.
14
Shaw, M.
13
Fryns, J.
13
Schwartz, C.
.
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Subject
88
Humans
54
Male
48
Mutation
44
Female
29
Intellectual Disability
29
Pedigree
28
Animals
26
Molecular Sequence Data
22
Chromosomes, Human, X
21
Transcription Factors
.
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