| Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology GR Wilson, JCH Sim, C McLean, M Giannandrea, CA Galea, JR Riseley, ... The American Journal of Human Genetics 95 (6), 729-735, 2014 | 240 | 2014 |
| The energetic brain–A review from students to students MP Bordone, MM Salman, HE Titus, E Amini, JV Andersen, B Chakraborti, ... Journal of neurochemistry 151 (2), 139-165, 2019 | 176 | 2019 |
| Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance APL Marsh, D Heron, TJ Edwards, A Quartier, C Galea, C Nava, ... Nature Genetics 49 (4), 511, 2017 | 98 | 2017 |
| Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR RJ Leventer, T Scerri, APL Marsh, K Pope, G Gillies, W Maixner, ... Neurology 84 (20), 2029-2032, 2015 | 77 | 2015 |
| DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome APL Marsh, TJ Edwards, C Galea, HM Cooper, EC Engle, SS Jamuar, ... Human Mutation 39 (1), 23-39, 2018 | 65 | 2018 |
| Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development C Chung, X Yang, T Bae, KI Vong, S Mittal, C Donkels, H Westley Phillips, ... Nature genetics 55 (2), 209-220, 2023 | 47 | 2023 |
| Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss APL Marsh, V Lukic, K Pope, C Bromhead, R Tankard, MM Ryan, EM Yiu, ... Neurology: Genetics 1 (2), e16, 2015 | 36 | 2015 |
| DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans RV da Silva, HC Johannssen, MT Wyss, RB Roome, FB Bourojeni, ... Cell Reports 22 (5), 1105-1114, 2018 | 26 | 2018 |
| Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency DJ Amor, APL Marsh, E Storey, R Tankard, G Gillies, MB Delatycki, ... Neurology: Genetics 2 (6), e114, 2016 | 24 | 2016 |
| 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 | 18 | 2021 |
| Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations M Spencer‐Smith, JL Knight, E Lacaze, Irc5 Consortium, C Depienne, ... Developmental Medicine & Child Neurology 62 (6), 758-762, 2020 | 17 | 2020 |
| A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9 AP Marsh, P Yap, T Tan, K Pope, SM White, B Chong, G Mcgillivray, ... Am J Med Genet A 173 (03), 820-823, 2017 | 12 | 2017 |
| DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation L Morcom, I Gobius, APL Marsh, R Suárez, JWC Lim, C Bridges, Y Ye, ... Elife 10, e61769, 2021 | 8 | 2021 |
| CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63 APL Marsh, G Novarino, PJ Lockhart, RJ Leventer European Journal of Human Genetics 27 (1), 161-166, 2019 | 6 | 2019 |
| Teaching NeuroImages: Imaging features of DCC-mediated mirror movements and isolated agenesis of the corpus callosum TJ Edwards, APL Marsh, PJ Lockhart, LJ Richards, RJ Leventer Neurology 91 (9), e886-e887, 2018 | 3 | 2018 |
Paul J LockhartMurdoch Childrens Research Institute在 mcri.edu.au 的电子邮件经过验证
