Murdoch Children's Research Institute

3 articles published in JoVE

• Medicine

  
  An Improved and High Throughput Respiratory Syncytial Virus (RSV) Micro-neutralization Assay Lien Anh Ha Do^1,2, Reuben Tse¹, Jordan Nathanielsz¹, Jeremy Anderson¹, Darren Suryawijaya Ong¹, Keith Chappell³, Kim Mulholland^1,2,4, Paul V. Licciardi^{1,2 1} This study describes a high throughput, imaging-based micro-neutralization assay to determine the titer of neutralizing antibodies specific for respiratory syncytial virus (RSV). This assay format has been tested on different sample types.

• Genetics

  
  Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry Sarah E. Ashley^1,2, Braydon A. Meyer^2,3, Justine A. Ellis^2,3,4, David J. Martino^{2,3,5 1}Molecular Genetics of Chronic Inflammation and Allergic Disease, Max-Delbrück Center for Molecular Medicine, ² Identification of genetic variants contributing to complex human disease allows us to identify novel mechanisms. Here, we demonstrate a multiplex genotyping approach to candidate genes or gene pathway analysis that maximizes the coverage at low cost and is amenable to cohort-based studies.

• Neuroscience

  
  A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations Valerio Conti*¹, Aurelie Carabalona*^2,3,15, Emilie Pallesi-Pocachard^2,3,4, Richard J. Leventer^5,6,7, Fabienne Schaller^2,3,8, Elena Parrini¹, Agathe A. Deparis^2,3, Françoise Watrin^2,3, Emmanuelle Buhler^2,3,8, Francesca Novara⁹, Stefano Lise¹⁰, Alistair T. Pagnamenta¹⁰, Usha Kini¹¹, Jenny C. Taylor¹⁰, Orsetta Zuffardi^9,12, Alfonso Represa^2,3, David Antony Keays¹³, Renzo Guerrini^1,14, Antonio Falace^2,3, Carlos Cardoso^{2,3 1}University of Florence, ²INSERM INMED, ³Aix-Marseille University, ⁴Plateforme Biologie Moléculaire et Cellulaire INMED, ⁵ Periventricular nodular heterotopia (PNH) is the most common form of malformation of cortical development (MCD) in adulthood but its genetic basis remains unknown in most sporadic cases. We have recently developed a strategy to identify novel candidate genes for MCDs and to directly confirm their causative role in vivo.