| Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia A Cortese, R Simone, R Sullivan, J Vandrovcova, H Tariq, WY Yau, ... Nature genetics 51 (4), 649-658, 2019 | 493 | 2019 |
| Spinocerebellar ataxia: an update R Sullivan, WY Yau, E O’Connor, H Houlden Journal of neurology 266, 533-544, 2019 | 340 | 2019 |
| Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion A Cortese, S Tozza, WY Yau, S Rossi, SJ Beecroft, Z Jaunmuktane, ... Brain 143 (2), 480-490, 2020 | 211 | 2020 |
| A novel cell-type deconvolution algorithm reveals substantial contamination by immune cells in saliva, buccal and cervix SC Zheng, AP Webster, D Dong, A Feber, DG Graham, R Sullivan, ... Epigenomics 10 (7), 925-940, 2018 | 140 | 2018 |
| A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families CK Scriba, SJ Beecroft, JS Clayton, A Cortese, R Sullivan, WY Yau, ... Brain 143 (10), 2904-2910, 2020 | 83 | 2020 |
| PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation V Chelban, MP Wilson, J Warman Chardon, J Vandrovcova, MN Zanetti, ... Annals of neurology 86 (2), 225-240, 2019 | 75 | 2019 |
| A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele SJ Beecroft, A Cortese, R Sullivan, WY Yau, Z Dyer, TY Wu, E Mulroy, ... Brain 143 (9), 2673-2680, 2020 | 71 | 2020 |
| Neuronal intranuclear inclusion disease is genetically heterogeneous Z Chen, W Yan Yau, Z Jaunmuktane, A Tucci, P Sivakumar, ... Annals of Clinical and Translational Neurology 7 (9), 1716-1725, 2020 | 54 | 2020 |
| De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects A Manole, S Efthymiou, E O’Connor, MI Mendes, M Jennings, ... The American Journal of Human Genetics 107 (2), 311-324, 2020 | 53 | 2020 |
| Genome‐wide association study identifies risk loci for cluster headache E O'Connor, C Fourier, C Ran, P Sivakumar, F Liesecke, L Southgate, ... Annals of neurology 90 (2), 193-202, 2021 | 51 | 2021 |
| Cerebellar dizziness and vertigo: etiologies, diagnostic assessment, and treatment A Zwergal, K Feil, R Schniepp, M Strupp Seminars in Neurology 40 (01), 087-096, 2020 | 37 | 2020 |
| RFC1-related ataxia is a mimic of early multiple system atrophy R Sullivan, WY Yau, V Chelban, S Rossi, N Dominik, E O'Connor, J Hardy, ... Journal of Neurology, Neurosurgery & Psychiatry 92 (4), 444-446, 2021 | 36 | 2021 |
| Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders WY Yau, J Vandrovcova, R Sullivan, Z Chen, A Zecchinelli, R Cilia, ... Movement Disorders 36 (1), 251-255, 2021 | 31 | 2021 |
| RFC1 Intronic Repeat Expansions Absent in Pathologically Confirmed Multiple Systems Atrophy R Sullivan, WY Yau, V Chelban, S Rossi, E O'Connor, NW Wood, ... Movement Disorders 35 (7), 1277-1279, 2020 | 29 | 2020 |
| An optimised saliva collection method to produce high-yield, high-quality RNA for translational research R Sullivan, S Heavey, DG Graham, R Wellman, S Khan, S Thrumurthy, ... PloS one 15 (3), e0229791, 2020 | 29 | 2020 |
| GGC repeat expansion in NOTCH2NLC is rare in European leukoencephalopathy WY Yau, R Sullivan, Z Chen, DS Lynch, J Vandrovcova, NW Wood, ... Annals of neurology 88 (3), 641-642, 2020 | 18 | 2020 |
| DNA repair in trinucleotide repeat ataxias WY Yau, E O'Connor, R Sullivan, L Akijian, NW Wood The FEBS Journal 285 (19), 3669-3682, 2018 | 17 | 2018 |
| Pathophysiology of Dyt1-Tor1a dystonia in mice is mediated by spinal neural circuit dysfunction AM Pocratsky, F Nascimento, MG Özyurt, IJ White, R Sullivan, ... Science translational medicine 15 (694), eadg3904, 2023 | 14 | 2023 |
| Cerebellar ataxia, neuropathy, vestibular areflexia syndrome: genetic and clinical insights R Sullivan, R Kaiyrzhanov, H Houlden Current Opinion in Neurology 34 (4), 556-564, 2021 | 13 | 2021 |
| Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease R Currò, N Dominik, S Facchini, E Vegezzi, R Sullivan, V Galassi Deforie, ... Brain 147 (5), 1887-1898, 2024 | 12 | 2024 |
