Richard Jacob Leventer

Summary

Affiliation: Royal Children's Hospital
Country: Australia

Publications

  1. ncbi 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
  2. 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
  3. ncbi 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
  4. ncbi 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

Publications4

  1. ncbi 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...
  2. 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...
  3. ncbi 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...
  4. ncbi 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...