| Cytokine receptor signaling through the Jak–Stat–Socs pathway in disease LA O'Sullivan, C Liongue, RS Lewis, SEM Stephenson, AC Ward Molecular immunology 44 (10), 2497-2506, 2007 | 416 | 2007 |
| 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 | 243 | 2014 |
| An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels EM Yiu, G Tai, RE Peverill, KJ Lee, KD Croft, TA Mori, ... Journal of neurology 262, 1344-1353, 2015 | 118 | 2015 |
| 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), 511-514, 2017 | 103 | 2017 |
| Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA WS Lee, SEM Stephenson, KB Howell, K Pope, G Gillies, A Wray, ... Annals of clinical and translational neurology 6 (7), 1338-1344, 2019 | 66 | 2019 |
| The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease Y Gao, GR Wilson, SEM Stephenson, K Bozaoglu, MJ Farrer, PJ Lockhart Movement Disorders 33 (2), 196-207, 2018 | 57 | 2018 |
| Constitutive activation of zebrafish Stat5 expands hematopoietic cell populations in vivo RS Lewis, SEM Stephenson, AC Ward Experimental Hematology 34 (2), 179-187, 2006 | 49 | 2006 |
| A single PDZ domain protein interacts with the Menkes copper ATPase, ATP7A: a new protein implicated in copper homeostasis SEM Stephenson, D Dubach, CM Lim, JFB Mercer, S La Fontaine Journal of Biological Chemistry 280 (39), 33270-33279, 2005 | 46 | 2005 |
| Genetic characterization identifies bottom-of-sulcus dysplasia as an mTORopathy WS Lee, SEM Stephenson, K Pope, G Gillies, W Maixner, ... Neurology 95 (18), e2542-e2551, 2020 | 37 | 2020 |
| Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia WS Lee, S Baldassari, M Chipaux, H Adle‐Biassette, SEM Stephenson, ... Annals of Clinical and Translational Neurology 8 (2), 485-490, 2021 | 33 | 2021 |
| Pathogenic variants in GPC4 cause Keipert syndrome DJ Amor, SEM Stephenson, M Mustapha, MA Mensah, CW Ockeloen, ... The American Journal of Human Genetics 104 (5), 914-924, 2019 | 31 | 2019 |
| The kids are OK: It is discrimination, not same-sex parents, that harms children F Oberklaid, MH Little, GC Patton, SM Sawyer, SR Skinner, MM Telfer, ... | 30 | 2017 |
| Cortical dysplasia and the mTOR pathway: How the study of human brain tissue has led to insights into epileptogenesis WS Lee, S Baldassari, SEM Stephenson, PJ Lockhart, S Baulac, ... International Journal of Molecular Sciences 23 (3), 1344, 2022 | 29 | 2022 |
| Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14 C Stutterd, P Diakumis, M Bahlo, M Fanjul Fernandez, RJ Leventer, ... Annals of Clinical and Translational Neurology 4 (12), 859-864, 2017 | 22 | 2017 |
| Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome SEM Stephenson, G Costain, LER Blok, MA Silk, TB Nguyen, X Dong, ... The American Journal of Human Genetics 109 (4), 601-617, 2022 | 21 | 2022 |
| Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line SEM Stephenson, TD Aumann, JM Taylor, JR Riseley, R Li, JR Mann, ... Scientific reports 8 (1), 7528, 2018 | 20 | 2018 |
| 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 | 18 | 2020 |
| ironXS: high-school screening for hereditary haemochromatosis is acceptable and feasible MB Delatycki, M Wolthuizen, V Collins, E Varley, J Craven, KJ Allen, ... European journal of human genetics 20 (5), 505-509, 2012 | 14 | 2012 |
| 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 | 13 | 2017 |
| Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort Y Gao, GR Wilson, N Salce, A Romano, GD Mellick, SEM Stephenson, ... Frontiers in Neurology 11, 523, 2020 | 12 | 2020 |
Paul J LockhartMurdoch Childrens Research Institute在 mcri.edu.au 的电子邮件经过验证
