Journal article

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy

Lisa J Ewans, Michael Field, Ying Zhu, Gillian Turner, Melanie Leffler, Marcel E Dinger, Mark J Cowley, Michael F Buckley, Ingrid E Scheffer, Matilda R Jackson, Tony Roscioli, Cheryl Shoubridge

European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2017

University of Melbourne Researchers


Awarded by Cancer Institute NSW

Awarded by Australian Research Council

Funding Acknowledgements

We thank the patients, their families and physicians for their participation in this study, in particular Dr Michael Partington for his work with this family over many years. We would like to thank Kevin Ying, Jiang Tao, Paula Morris and Kerith-Rae Dias from the Kinghorn Centre for Clinical Genomics for sequencing these patients. Whole exome sequencing and salaries for TR and MED were funded through a donation by the Kinghorn Foundation to the Garvan Institute of Medical Research. MJC is supported by Cancer Institute NSW (13/ECF/1-46). CS is supported by the Australian Research Council (Future Fellowship FT120100086).