| Early, accurate diagnosis and early intervention in cerebral palsy: advances in diagnosis and treatment I Novak, C Morgan, L Adde, J Blackman, RN Boyd, ... JAMA pediatrics 171 (9), 897-907, 2017 | 1706 | 2017 |
| State of the evidence traffic lights 2019: systematic review of interventions for preventing and treating children with cerebral palsy I Novak, C Morgan, M Fahey, M Finch-Edmondson, C Galea, A Hines, ... Current neurology and neuroscience reports 20, 1-21, 2020 | 1033 | 2020 |
| Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 636 | 2015 |
| The genetic basis of cerebral palsy MC Fahey, AH Maclennan, D Kretzschmar, J Gecz, MC Kruer Developmental Medicine & Child Neurology 59 (5), 462-469, 2017 | 237 | 2017 |
| Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C FA Wijburg, F Sedel, M Pineda, CJ Hendriksz, M Fahey, M Walterfang, ... Neurology 78 (20), 1560-1567, 2012 | 196 | 2012 |
| Preterm hypoxic–ischemic encephalopathy KR Gopagondanahalli, J Li, MC Fahey, RW Hunt, G Jenkin, SL Miller, ... Frontiers in pediatrics 4, 114, 2016 | 180 | 2016 |
| Mutations in TPM3 are a common cause of congenital fiber type disproportion NF Clarke, H Kolski, DE Dye, E Lim, RLL Smith, R Patel, MC Fahey, ... Annals of neurology 63 (3), 329-337, 2008 | 179 | 2008 |
| Ascorbic acid for Charcot–Marie–Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial J Burns, RA Ouvrier, EM Yiu, PD Joseph, AJ Kornberg, MC Fahey, ... The Lancet Neurology 8 (6), 537-544, 2009 | 176 | 2009 |
| Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system S Lunke, S Eggers, M Wilson, C Patel, CP Barnett, J Pinner, ... Jama 323 (24), 2503-2511, 2020 | 170 | 2020 |
| Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia MC Fahey, PD Cremer, ST Aw, L Millist, MJ Todd, OB White, M Halmagyi, ... Brain 131 (4), 1035-1045, 2008 | 158 | 2008 |
| 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 | 151 | 2020 |
| The neuropsychiatry of Niemann-Pick type C disease in adulthood M Walterfang, M Fietz, M Fahey, D Sullivan, P Leane, DI Lubman, ... The Journal of neuropsychiatry and clinical neurosciences 18 (2), 158-170, 2006 | 145 | 2006 |
| Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome SM White, EM Thompson, A Kidd, R Savarirayan, A Turner, D Amor, ... American Journal of Medical Genetics Part A 127 (2), 118-127, 2004 | 125 | 2004 |
| Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial EMP Knight, S Amin, N Bahi-Buisson, TA Benke, JH Cross, ST Demarest, ... The Lancet Neurology 21 (5), 417-427, 2022 | 120 | 2022 |
| 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 | 120 | 2019 |
| A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy KB Howell, S Eggers, K Dalziel, J Riseley, S Mandelstam, CT Myers, ... Epilepsia 59 (6), 1177-1187, 2018 | 120 | 2018 |
| White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study M Walterfang, M Fahey, P Desmond, A Wood, ML Seal, C Steward, ... Neurology 75 (1), 49-56, 2010 | 118 | 2010 |
| How is disease progress in Friedreich’s ataxia best measured? A study of four rating scales MC Fahey, L Corben, V Collins, AJ Churchyard, MB Delatycki Journal of Neurology, Neurosurgery & Psychiatry 78 (4), 411-413, 2007 | 113 | 2007 |
| Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation MS Hildebrand, VE Jackson, TS Scerri, O Van Reyk, M Coleman, ... Neurology 94 (20), e2148-e2167, 2020 | 112 | 2020 |
| Concise review: stem cell interventions for people with cerebral palsy: systematic review with meta-analysis I Novak, K Walker, RW Hunt, EM Wallace, M Fahey, N Badawi Stem cells translational medicine 5 (8), 1014-1025, 2016 | 110 | 2016 |
Suzanne MillerProfessor, The Ritchie Centre, Monash UniversityCorreu electrònic verificat a monash.edu
