Richard Leventer
Richard Leventer
Professor of Neurology, Royal Children's Hospital, Melbourne
Verified email at rch.org.au
Title
Cited by
Cited by
Year
14-3-3ε is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller–Dieker syndrome
K Toyo-Oka, A Shionoya, MJ Gambello, C Cardoso, R Leventer, HL Ward, ...
Nature genetics 34 (3), 274-285, 2003
4012003
Somatic mutations in cerebral cortical malformations
SS Jamuar, ATN Lam, M Kircher, AM D’Gama, J Wang, BJ Barry, X Zhang, ...
New England Journal of Medicine 371 (8), 733-743, 2014
2902014
Developmental trajectories of executive functions across the lifespan.
CR De Luca, RJ Leventer
Taylor & Francis, 2008
2862008
Childhood brain insult: can age at insult help us predict outcome?
V Anderson, M Spencer-Smith, R Leventer, L Coleman, P Anderson, ...
Brain 132 (1), 45-56, 2009
2772009
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh, A Yeung, H Peters, ...
Genetics in Medicine 18 (11), 1090-1096, 2016
2742016
Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of …
C Cardoso, RJ Leventer, HL Ward, K Toyo-Oka, J Chung, A Gross, ...
The American Journal of Human Genetics 72 (4), 918-930, 2003
2562003
Malformations of cortical development and epilepsy
RJ Leventer, R Guerrini, WB Dobyns
Dialogues in clinical neuroscience 10 (1), 47, 2008
2232008
Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis
S Ramanathan, K Prelog, EH Barnes, EM Tantsis, SW Reddel, ...
Multiple Sclerosis Journal 22 (4), 470-482, 2016
2192016
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients
RJ Leventer, A Jansen, DT Pilz, N Stoodley, C Marini, F Dubeau, ...
Brain 133 (5), 1415-1427, 2010
2142010
Clinical and imaging features of cortical malformations in childhood
RJ Leventer, EM Phelan, LT Coleman, MJ Kean, GD Jackson, AS Harvey
Neurology 53 (4), 715-715, 1999
1881999
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome
VL Sheen, A Jansen, MH Chen, E Parrini, T Morgan, R Ravenscroft, ...
Neurology 64 (2), 254-262, 2005
1792005
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
1752014
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity
RJ Taft, A Vanderver, RJ Leventer, SA Damiani, C Simons, SM Grimmond, ...
The American Journal of Human Genetics 92 (5), 774-780, 2013
1542013
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
N Matsumoto, RJ Leventer, JA Kuc, SK Mewborn, LL Dudlicek, ...
European Journal of Human Genetics 9 (1), 5-12, 2001
1512001
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
S Parikh, G Bernard, RJ Leventer, MS van der Knaap, J van Hove, ...
Molecular genetics and metabolism 114 (4), 501-515, 2015
1472015
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
D Lessel, B Vaz, S Halder, PJ Lockhart, I Marinovic-Terzic, ...
Nature genetics 46 (11), 1239-1244, 2014
1472014
Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures
GL Carvill, JM McMahon, A Schneider, M Zemel, CT Myers, J Saykally, ...
The American Journal of Human Genetics 96 (5), 808-815, 2015
1412015
Polymicrogyria and deletion 22q11. 2 syndrome: window to the etiology of a common cortical malformation
NH Robin, CJ Taylor, DM McDonald‐McGinn, EH Zackai, P Bingham, ...
American Journal of Medical Genetics Part A 140 (22), 2416-2425, 2006
1362006
Children's executive functions: are they poorer after very early brain insult
V Anderson, M Spencer-Smith, L Coleman, P Anderson, J Williams, ...
Neuropsychologia 48 (7), 2041-2050, 2010
1342010
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ...
Journal of medical genetics 54 (7), 460-470, 2017
1292017
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