| Short stature due to 15q26 microdeletion involving IGF1R: Report of an additional case and review of the literature LI Rudaks, JK Nicholl, D Bratkovic, CP Barnett American Journal of Medical Genetics Part A 155 (12), 3139-3143, 2011 | 37 | 2011 |
| Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia LI Rudaks, C Andersen, TY Khong, A Kelly, M Fietz, CP Barnett Pediatric cardiology 33, 827-830, 2012 | 19 | 2012 |
| Novel clinical features in pontine tegmental cap dysplasia LI Rudaks, S Patel, CP Barnett Pediatric neurology 46 (6), 393-396, 2012 | 17 | 2012 |
| An update on the adult-onset hereditary cerebellar ataxias: novel genetic causes and new diagnostic approaches LI Rudaks, D Yeow, K Ng, IW Deveson, ML Kennerson, KR Kumar The Cerebellum 23 (5), 2152-2168, 2024 | 10 | 2024 |
| Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4 LI Rudaks, L Moore, KL Shand, C Wilkinson, CP Barnett Pediatric neurology 45 (3), 185-188, 2011 | 10 | 2011 |
| Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review SF Siow, D Yeow, LI Rudaks, F Jia, G Wali, CM Sue, KR Kumar Genes 14 (9), 1756, 2023 | 8 | 2023 |
| Genetic testing of movements disorders: A review of clinical utility D Yeow, LI Rudaks, SF Siow, RL Davis, KR Kumar Tremor and Other Hyperkinetic Movements 14, 2, 2024 | 7 | 2024 |
| SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies LI Rudaks, D Yeow, KR Kumar Movement Disorders 39 (3), 457-461, 2024 | 6 | 2024 |
| ACBD5‐related retinal dystrophy with leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency LI Rudaks, J Triplett, K Morris, S Reddel, L Worgan American Journal of Medical Genetics Part A 194 (2), 346-350, 2024 | 4 | 2024 |
| Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with … LI Rudaks, E Watson, C Oboudiyat, KR Kumar, P Sullivan, MJ Cowley, ... American Journal of Medical Genetics Part A 188 (7), 2226-2230, 2022 | 3 | 2022 |
| Safe and correct use of peripheral intravenous devices T Dorniak‐Wall, L Rudaks, NS Solanki, J Greenwood ANZ Journal of Surgery 83 (10), 764-768, 2013 | 3 | 2013 |
| Genome sequencing reanalysis increases the diagnostic yield in dystonia A Fellner, GM Wali, N Mahant, BR Grosz, M Ellis, RK Narayanan, K Ng, ... Parkinsonism & Related Disorders 124, 107010, 2024 | 2 | 2024 |
| Expert commentary for fragile X premutation mimicking late onset hereditary spastic paraplegia LI Rudaks, D Yeow, KR Kumar Parkinsonism & Related Disorders 119, 105969, 2024 | 1 | 2024 |
| 080 The diagnostic journey of mitochondrial disease patients LI Rudaks, E Watson, M Lubomski, F Edema-Hildebrand, K Ahmad, ... BMJ Neurology Open 3 (Suppl 1), 2021 | 1 | 2021 |
| 075 Gadolinium encephalopathy presenting as status epilepticus following intrathecal injection E Sutherland, J Baird-Gunning, L Rudaks, N Palavra, M Lubomski, ... BMJ Neurology Open 3 (Suppl 1), A27-A27, 2021 | 1 | 2021 |
| Endovascular treatment for acute ischemic stroke: Experience in South Australia. LI Rudaks, I Ahangar, L Dodd, AG Milton, MA Hamilton-Bruce, J Jannes, ... International Journal of Stroke 10 (6), 2015 | 1 | 2015 |
| Monogenic Parkinson’s Disease Australia (MonoPDAus) initiative: study protocol D Yeow, LI Rudaks, LM García-Marín, V Flores-Ocampo, ... BMJ Group 6 (Supplement 1), A22-A23, 2024 | | 2024 |
| 3039 Monogenic Parkinson’s Disease Australia (MonoPDAus) initiative: study protocol D Yeow, LI Rudaks, LM García-Marín, V Flores-Ocampo, ... BMJ Neurology Open 6 (Suppl 1), 2024 | | 2024 |
| 6 SCA27B identified as a common cause of unsolved ataxia in a cohort evaluated with long-read sequencing LI Rudaks, D Yeow, S Chintalaphani, I Stevanovski, ALM Reis, VSC Fung, ... BMJ Neurology Open 6 (Suppl 1), 2024 | | 2024 |
| Reply to: Comment to “SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies” LI Rudaks, D Yeow, KR Kumar Movement Disorders 39 (6), 1078-1078, 2024 | | 2024 |
