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Murdoch Children'S Research Institute

2 ARTICLES PUBLISHED IN JoVE

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

¹University of Florence, ²INSERM INMED, ³Aix-Marseille University, ⁴Plateforme Biologie Moléculaire et Cellulaire INMED, ⁵Royal Children's Hospital, ⁶Murdoch Children's Research Institute, ⁷University of Melbourne, ⁸Plateforme postgenomique INMED, ⁹University of Pavia, ¹⁰Wellcome Trust Centre for Human Genetics, ¹¹Oxford Radcliffe NHS Trust, ¹²IRCCS Casimiro Mondino Foundation, ¹³Research Institute of Molecular Pathology, ¹⁴IRCCS Stella Maris, ¹⁵Columbia University

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.

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

¹Murdoch Children's Research Institute, ²Department of Paediatrics, University of Melbourne, ³School of Chemistry and Molecular Bioscience, University of Queensland, ⁴London School of Hygiene and Tropical Medicine

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.