Richard Jacob Leventer
Affiliation: Royal Children's Hospital
- Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTORRichard J Leventer
From the Departments of Neurology R J L, A S H, Neurosurgery W M, and Anatomical Pathology D M, The Royal Children s Hospital, Melbourne Department of Pediatrics R J L, A S H, M B D, D J A, P J L, The University of Melbourne Bioinformatics Division T S, M B, The Walter and Eliza Hall Institute of Medical Research, Melbourne Bruce Lefroy Centre for Genetic Health Research A P L M, K P, G G, M B D, D J A, P J L, Murdoch Childrens Research Institute R J L, A S H, Melbourne Clinical Genetics M B D, Austin Health, Melbourne, Australia and Shriners Hospital Pediatric Research Center P C, Temple University, Philadelphia, PA
Neurology 84:2029-32. 2015..To define causative somatic mutations in resected brain tissue from an infant with intractable epilepsy secondary to hemispheric cortical dysplasia...
- Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypesKatherine R Smith
Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia
Genome Biol 12:R85. 2011..We demonstrate that accurate genetic linkage mapping can be performed using SNP genotypes extracted from exome data, removing the need for separate array-based genotyping. We provide software to facilitate such analyses...
- Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answeredRichard Jacob Leventer
Department of Neurology, Royal Children s Hospital, Murdoch Children s Research Institute, University of Melbourne, Australia
J Child Neurol 20:307-12. 2005..This review answers some of the key questions regarding the genotype-phenotype correlation for lissencephaly and subcortical band heterotopia...
- Malformations of cortical development and epilepsyRichard J Leventer
Children s Neuroscience Centre and Murdoch Children s Research Institute, Royal Children s Hospital, Melbourne, Australia
Dialogues Clin Neurosci 10:47-62. 2008..The malformations tuberous sclerosis, focal cortical dysplasia, hemimegalencephaly, classical lissencephaly, subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented...
- Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patientsRichard J Leventer
Children s Neuroscience Centre, Royal Children s Hospital, Flemington Road, Parkville, Melbourne 3052, Australia
Brain 133:1415-27. 2010..Progression from describing imaging patterns to defining anatomoclinical syndromes will improve the accuracy of prognostic counselling and will aid identification of the aetiologies of polymicrogyria, including genetic causes...