| Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy G McMichael, MN Bainbridge, E Haan, M Corbett, A Gardner, ... Molecular psychiatry 20 (2), 176-182, 2015 | 241 | 2015 |
| Mutations disrupting neuritogenesis genes confer risk for cerebral palsy SC Jin, SA Lewis, S Bakhtiari, X Zeng, MC Sierant, S Shetty, SM Nordlie, ... Nature genetics 52 (10), 1046-1056, 2020 | 123 | 2020 |
| Genetic or other causation should not change the clinical diagnosis of cerebral palsy AH MacLennan, S Lewis, A Moreno-De-Luca, M Fahey, RJ Leventer, ... Journal of child neurology 34 (8), 472-476, 2019 | 105 | 2019 |
| Double-stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases KT Lawlor, LV O'Keefe, SE Samaraweera, CL van Eyk, CJ McLeod, ... Human Molecular Genetics 20 (19), 3757-3768, 2011 | 58 | 2011 |
| Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy MA Corbett, CL van Eyk, DL Webber, SJ Bent, M Newman, K Harper, ... NPJ genomic medicine 3 (1), 33, 2018 | 46 | 2018 |
| The emerging genetic landscape of cerebral palsy CL Van Eyk, MA Corbett, AH Maclennan Handbook of clinical neurology 147, 331-342, 2018 | 35 | 2018 |
| Perturbation of the Akt/Gsk3-β signalling pathway is common to Drosophila expressing expanded untranslated CAG, CUG and AUUCU repeat RNAs CL Van Eyk, LV O'Keefe, KT Lawlor, SE Samaraweera, CJ McLeod, ... Human molecular genetics 20 (14), 2783-2794, 2011 | 35 | 2011 |
| Definition and diagnosis of cerebral palsy in genetic studies: a systematic review R Pham, BW Mol, J Gecz, AH MacLennan, SC MacLennan, MA Corbett, ... Developmental Medicine & Child Neurology 62 (9), 1024-1030, 2020 | 29 | 2020 |
| Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism CL Van Eyk, MA Corbett, A Gardner, BW Van Bon, JL Broadbent, ... Translational psychiatry 8 (1), 88, 2018 | 29 | 2018 |
| Comparative toxicity of polyglutamine, polyalanine and polyleucine tracts in Drosophila models of expanded repeat disease CL van Eyk, CJ McLeod, LV O'Keefe, RI Richards Human molecular genetics 21 (3), 536-547, 2012 | 25 | 2012 |
| Targeted resequencing identifies genes with recurrent variation in cerebral palsy CL Van Eyk, MA Corbett, MSB Frank, DL Webber, M Newman, JG Berry, ... NPJ Genomic Medicine 4 (1), 27, 2019 | 22 | 2019 |
| Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing CL van Eyk, DL Webber, AE Minoche, LA Pérez-Jurado, MA Corbett, ... NPJ genomic medicine 6 (1), 74, 2021 | 18 | 2021 |
| Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss EM Richard, S Bakhtiari, APL Marsh, R Kaiyrzhanov, M Wagner, S Shetty, ... The American Journal of Human Genetics 108 (10), 2006-2016, 2021 | 16 | 2021 |
| Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants S Kayumi, LA Pérez-Jurado, M Palomares, S Rangu, SE Sheppard, ... Genetics in Medicine 24 (11), 2351-2366, 2022 | 15 | 2022 |
| RNA pathogenesis via Toll-like receptor-activated inflammation in expanded repeat neurodegenerative diseases RI Richards, SE Samaraweera, CL Eyk, LV O’Keefe, CM Suter Frontiers in molecular neuroscience 6, 25, 2013 | 14 | 2013 |
| Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity A Kurolap, F Kreuder, C Gonzaga-Jauregui, MP Duvdevani, T Harel, ... The American Journal of Human Genetics 109 (3), 518-532, 2022 | 12 | 2022 |
| Ubiquitous expression of CUG or CAG trinucleotide repeat RNA causes common morphological defects in a Drosophila model of RNA-mediated pathology KT Lawlor, LV O’Keefe, SE Samaraweera, CL Van Eyk, RI Richards PLoS One 7 (6), e38516, 2012 | 12 | 2012 |
| Dynamic mutations: where are they now? CL van Eyk, RI Richards Tandem Repeat Polymorphisms: Genetic Plasticity, Neural Diversity and …, 2012 | 11 | 2012 |
| Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology CL van Eyk, MC Fahey, J Gecz Nature Reviews Neurology 19 (9), 542-555, 2023 | 7 | 2023 |
| All patients with a cerebral palsy diagnosis merit genomic sequencing C van Eyk, SC MacLennan, AH MacLennan JAMA pediatrics 177 (5), 455-456, 2023 | 6 | 2023 |
Jozef GeczThe University of AdelaideVerified email at adelaide.edu.au
