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Issue Date
Title
Author(s)
2013
RAB40AL loss-of-function mutation does not cause X-linked intellectual disability
Kalscheuer, V.
;
Iqbal, Z.
;
Hu, H.
;
Haas, S.
;
Shaw, M.
;
Lebrun, N.
;
Seemanova, E.
;
Voesenek, K.
;
Hobson, L.
;
Ropers, H.H.
;
Townshend, S.
;
Raynaud, M.
;
van Bokhoven, H.
;
Riazuddin, S.
;
Chelly, J.
;
Gecz, J.
2013
PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox example
Tan, M.
;
Gecz, J.
;
Shoubridge, C.
;
Hatters, D.
;
Hannan, A.
2014
UPF3B gene and nonsense-mediated mRNA decay in autism spectrum disorders
Laumonnier, F.
;
Nguyen, L.
;
Jolly, L.
;
Raynaud, M.
;
Gecz, J.
;
Patel, V.
;
Preedy, P.
;
Martin, C.
2013
Challenges of 'sticky' co-immunoprecipitation: Polyalanine tract protein-protein interactions
Mattiske, T.
;
Tan, M.
;
Gecz, J.
;
Shoubridge, C.
;
Hatters, D.
;
Hannan, A.
2016
New insights into Brunner syndrome and potential for targeted therapy
Palmer, E.
;
Leffler, M.
;
Rogers, C.
;
Shaw, M.
;
Carroll, R.
;
Earl, J.
;
Cheung, N.
;
Champion, B.
;
Hu, H.
;
Haas, S.
;
Kalscheuer, V.
;
Gecz, J.
;
Field, M.
2015
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M.
;
Montani, C.
;
Lebrun, N.
;
Gritti, L.
;
Martin, C.
;
Seminatore-Nole, C.
;
Toussaint, A.
;
Moreno, S.
;
Poirier, K.
;
Dorseuil, O.
;
Chelly, J.
;
Hackett, A.
;
Gecz, J.
;
Bieth, E.
;
Faudet, A.
;
Heron, D.
;
Kooy, R.
;
Loeys, B.
;
Humeau, Y.
;
Sala, C.
;
et al.
2014
Nonsense-mediated mRNA decay: Inter-individual variability and human disease
Nguyen, L.
;
Wilkinson, M.
;
Gecz, J.
2015
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
McMichael, G.
;
Bainbridge, M.
;
Haan, E.
;
Corbett, M.
;
Gardner, A.
;
Thompson, S.
;
Van Bon, B.
;
Van Eyk, C.
;
Broadbent, J.
;
Reynolds, C.
;
O'Callaghan, M.
;
Nguyen, L.
;
Adelson, D.
;
Russo, R.
;
Jhangiani, S.
;
Doddapaneni, H.
;
Muzny, D.
;
Gibbs, R.
;
Gecz, J.
;
MacLennan, A.
2015
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity
Brookes, E.
;
Laurent, B.
;
Õunap, K.
;
Carroll, R.
;
Moeschler, J.
;
Field, M.
;
Schwartz, C.
;
Gecz, J.
;
Shi, Y.
2013
FOXP1 mutations cause intellectual disability and a recognizable phenotype
Le Fevre, A.
;
Taylor, S.
;
Malek, N.
;
Horn, D.
;
Carr, C.
;
Abdul-Rahman, O.
;
O'Donnell, S.
;
Burgess, T.
;
Shaw, M.
;
Gecz, J.
;
Bain, N.
;
Fagan, K.
;
Hunter, M.
Discover
Author
12
Shoubridge, C.
10
Corbett, M.
10
Haan, E.
10
Hackett, A.
8
Field, M.
8
Nguyen, L.
7
et al.
7
Raynaud, M.
7
Shaw, M.
6
Chelly, J.
.
next >
Subject
8
Pedigree
7
Brain
6
92 Health
6
Epilepsy
6
Molecular Sequence Data
6
Transcription Factors
5
06 Biological Sciences
5
0604 Genetics
5
9201 Clinical Health (Organs, Dis...
5
Amino Acid Sequence
.
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