Richard Jacob Leventer

Summary

Affiliation: Royal Children's Hospital
Country: Australia

Publications

  1. pmc Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR
    Richard 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
  2. pmc Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes
    Katherine 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
  3. ncbi Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered
    Richard 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
  4. pmc Malformations of cortical development and epilepsy
    Richard 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
  5. pmc Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients
    Richard J Leventer
    Children s Neuroscience Centre, Royal Children s Hospital, Flemington Road, Parkville, Melbourne 3052, Australia
    Brain 133:1415-27. 2010

Collaborators

Detail Information

Publications5

  1. pmc Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR
    Richard 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...
  2. pmc Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes
    Katherine 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...
  3. ncbi Genotype-phenotype correlation in lissencephaly and subcortical band heterotopia: the key questions answered
    Richard 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...
  4. pmc Malformations of cortical development and epilepsy
    Richard 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...
  5. pmc Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients
    Richard 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...