|A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation|
PS Tarpey, R Smith, E Pleasance, A Whibley, S Edkins, C Hardy, ...
Nature genetics 41 (5), 535, 2009
|X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment|
LM Dibbens, PS Tarpey, K Hynes, MA Bayly, IE Scheffer, R Smith, ...
Nature genetics 40 (6), 776, 2008
|Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation|
PS Tarpey, FL Raymond, LS Nguyen, J Rodriguez, A Hackett, ...
Nature genetics 39 (9), 1127, 2007
|The genetic landscape of intellectual disability arising from chromosome X|
J Gécz, C Shoubridge, M Corbett
Trends in Genetics 25 (7), 308-316, 2009
|ARX spectrum disorders: making inroads into the molecular pathology|
C Shoubridge, T Fullston, J Gécz
Human mutation 31 (8), 889-900, 2010
|Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability|
C Shoubridge, PS Tarpey, F Abidi, SL Ramsden, S Rujirabanjerd, ...
Nature genetics 42 (6), 486, 2010
|Degradation of IGF-I in the adult rat gastrointestinal tract is limited by a specific antiserum or the dietary protein casein|
CJ Xian, CA Shoubridge, LC Read
Journal of Endocrinology 146 (2), 215-225, 1995
|Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism|
F Laumonnier, C Shoubridge, C Antar, LS Nguyen, H Van Esch, ...
Molecular psychiatry 15 (7), 767, 2010
|A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability|
L Huang, LA Jolly, S Willis-Owen, A Gardner, R Kumar, E Douglas, ...
The American Journal of Human Genetics 91 (4), 694-702, 2012
|Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability|
LS Nguyen, L Jolly, C Shoubridge, WK Chan, L Huang, F Laumonnier, ...
Molecular psychiatry 17 (11), 1103, 2012
|Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor|
O McKenzie, I Ponte, M Mangelsdorf, M Finnis, G Colasante, ...
Neuroscience 146 (1), 236-247, 2007
|Systemic infusion of IGF-I or LR (3) IGF-I stimulates visceral organ growth and proliferation of gut tissues in suckling rats|
CB Steeb, CA Shoubridge, DR Tivey, LC Read
American Journal of Physiology-Gastrointestinal and Liver Physiology 272 (3 …, 1997
|Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene|
C Shoubridge, D Cloosterman, E Parkinson–Lawerence, D Brooks, ...
Genomics 90 (1), 59-71, 2007
|Enhancement of intestinal growth and repair by growth factors|
GS Howarth, CA Shoubridge
Current opinion in pharmacology 1 (6), 568-574, 2001
|Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency|
C Tan, C Shard, E Ranieri, K Hynes, DH Pham, D Leach, G Buchanan, ...
Human molecular genetics 24 (18), 5250-5259, 2015
|Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson–Forssman–Lehmann Syndrome of intellectual disability and obesity|
AK Voss, R Gamble, C Collin, C Shoubridge, M Corbett, J Gécz, ...
Gene Expression Patterns 7 (8), 858-871, 2007
|Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the …|
C Shoubridge, MH Tan, T Fullston, D Cloosterman, D Coman, ...
Pathogenetics 3 (1), 1, 2010
|Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders|
C Moey, SJ Hinze, L Brueton, J Morton, DJ McMullan, B Kamien, ...
European Journal of Human Genetics 24 (3), 373, 2016
|The molecular and phenotypic spectrum of IQSEC2‐related epilepsy|
A Zerem, K Haginoya, D Lev, L Blumkin, S Kivity, I Linder, C Shoubridge, ...
Epilepsia 57 (11), 1858-1869, 2016
|Large scale gene expression meta-analysis reveals tissue-specific, sex-biased gene expression in humans|
BT Mayne, T Bianco-Miotto, S Buckberry, J Breen, V Clifton, C Shoubridge, ...
Frontiers in genetics 7, 183, 2016