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Results 1-10 of 10 (Search time: 0.004 seconds).
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Issue Date
Title
Author(s)
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.
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.
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.
2015
Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal
Haines, B.
;
Hughes, J.
;
Corbett, M.
;
Shaw, M.
;
Innes, J.
;
Patel, L.
;
Gecz, J.
;
Clayton-Smith, J.
;
Thomas, P.
2015
Developmental disorders: deciphering exomes on a grand scale
Gecz, J.
;
Corbett, M.
2013
TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation
Afawi, Z.
;
Mandelstam, S.
;
Korczyn, A.
;
Kivity, S.
;
Walid, S.
;
Shalata, A.
;
Oliver, K.
;
Corbett, M.
;
Gecz, J.
;
Berkovic, S.
;
Jackson, G.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
2010
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
Hackett, A.
;
Tarpey, P.
;
Licata, A.
;
Cox, J.
;
Whibley, A.
;
Boyle, J.
;
Rogers, C.
;
Grigg, J.
;
Partington, M.
;
Stevenson, R.
;
Tolmie, J.
;
Yates, J.
;
Turner, G.
;
Wilson, M.
;
Futreal, P.
;
Corbett, M.
;
Shaw, M.
;
Gecz, J.
;
Raymond, F.
;
Stratton, M.
2012
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
Field, M.
;
Scheffer, I.
;
Gill, D.
;
Wilson, M.
;
Christie, L.
;
Shaw, M.
;
Gardner, A.
;
Glubb, G.
;
Hobson, L.
;
Corbett, M.
;
Friend, K.
;
Willis-Owen, S.
;
Gecz, J.
2011
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay
Bruno, I.
;
Karam, R.
;
Huang, L.
;
Bhardwaj, A.
;
Lou, C.
;
Shum, E.
;
Song, H.
;
Corbett, M.
;
Gifford, W.
;
Gecz, J.
;
Pfaff, S.
;
Wilkinson, M.
Discover
Author
4
Gardner, A.
4
Shaw, M.
3
Field, M.
3
Haan, E.
3
Hackett, A.
2
Afawi, Z.
2
et al.
2
Friend, K.
2
Huang, L.
2
Hughes, J.
.
next >
Subject
5
Humans
4
Animals
4
Male
3
Mice
2
Brain
2
Child, Preschool
2
Female
2
Infant
2
Molecular Sequence Data
2
Mutation
.
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