Journal article

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child

Rocio Rius, Lisa G Riley, Yiran Guo, Minal Menezes, Alison G Compton, Nicole J Van Bergen, Velimir Gayevskiy, Mark J Cowley, Beryl B Cummings, Louisa Adams, Carolyn Ellaway, David R Thorburn, Hakon Hakonarson, John Christodoulou

Molecular Genetics and Metabolism | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2019


Awarded by NHMRC

Funding Acknowledgements

This research was supported by a New South Wales Office of Health and Medical Research Council Sydney Genomics Collaborative grant (JC), NHMRC project grant 1026891 (JC), NHMRC research fellowship 1102896 (DRT) and a NSW Health Early-Mid Career Fellowship (MJC). Whole exome sequencing, data analysis was done in the Center for Applied Genomics at the Children's Hospital of Philadelphia through research funding from Aevi Genomic Medicine Inc. We are grateful to the Crane and Perkins families for their generous financial support. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program.