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| 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), 776-781, 2008 | 514 | 2008 |
| Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation PS Tarpey, F Lucy Raymond, LS Nguyen, J Rodriguez, A Hackett, ... Nature genetics 39 (9), 1127-1133, 2007 | 312 | 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 | 226 | 2009 |
| ARX spectrum disorders: making inroads into the molecular pathology C Shoubridge, T Fullston, J Gécz Human mutation 31 (8), 889-900, 2010 | 182 | 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), 486-488, 2010 | 181 | 2010 |
| 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), 767-776, 2010 | 146 | 2010 |
| 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 | 131 | 2016 |
| 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), 1103-1115, 2012 | 126 | 2012 |
| 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 | 120 | 2012 |
| 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 | 98 | 1995 |
| 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 | 97 | 2015 |
| Diagnostic yield of whole genome sequencing after nondiagnostic exome sequencing or gene panel in developmental and epileptic encephalopathies EE Palmer, R Sachdev, R Macintosh, US Melo, S Mundlos, S Righetti, ... Neurology 96 (13), e1770-e1782, 2021 | 92 | 2021 |
| 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 | 77 | 2007 |
| 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 | 66 | 2016 |
| 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 | 66 | 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 | 60 | 1997 |
| 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), 373-380, 2016 | 59 | 2016 |
| 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 | 56 | 2007 |
| IQSEC2 mutation update and review of the female‐specific phenotype spectrum including intellectual disability and epilepsy C Shoubridge, RJ Harvey, T Dudding‐Byth Human Mutation 40 (1), 5-24, 2019 | 51 | 2019 |
