Cheryl Shoubridge
Cheryl Shoubridge
Associate Professor, Intellectual Disability Research Laboratory, University of Adelaide
Verified email at adelaide.edu.au - Homepage
TitleCited byYear
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
5012009
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
2932008
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
1962007
The genetic landscape of intellectual disability arising from chromosome X
J Gécz, C Shoubridge, M Corbett
Trends in Genetics 25 (7), 308-316, 2009
1822009
ARX spectrum disorders: making inroads into the molecular pathology
C Shoubridge, T Fullston, J Gécz
Human mutation 31 (8), 889-900, 2010
1112010
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
1062010
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
891995
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
812010
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
672012
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
662012
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
632007
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
561997
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
462007
Enhancement of intestinal growth and repair by growth factors
GS Howarth, CA Shoubridge
Current opinion in pharmacology 1 (6), 568-574, 2001
372001
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
322015
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
322007
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
292010
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
272016
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
252016
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
252016
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Articles 1–20