Journal article

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

Stefanie Eggers, Katherine R Smith, Melanie Bahlo, Leendert HJ Looijenga, Stenvert LS Drop, Zulfa A Juniarto, Vincent R Harley, Peter Koopman, Sultana MH Faradz, Andrew H Sinclair

European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2015


Awarded by Australian National Health and Medical Research Council

Awarded by Helen Macpherson Smith Trust

Awarded by Australian Research Council

Funding Acknowledgements

We thank the family for their participation in this study and the staff at the Center for Biomedical Research in Semarang, Indonesia, for sample and data collection. We thank Craig Smith for critical proof reading of the manuscript and the Ian Potter Centre for Personalised Genomics for use of equipment. This work was supported by the Australian National Health and Medical Research Council (Program grant number 546517 to AS, PK VRH and IRIISS, Program grant number 490037 to MB), the Helen Macpherson Smith Trust (Partnership grant 6846 to AS), the Australian Research Council (Future Fellowship 100100764 to MB), The Pratt Foundation (KRS), The University of Melbourne (MIRS to SE), The Australian Government, Department of Innovation, Industry, Science and Research (IPRS to SE), and the Victorian Government's Operational Infrastructure Support Program.