Paper Details

Paper Title

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Paper Journal Title

Nat Med

Paper Citation Count

Paper Publication Year

2023

Bio Mention

children, chromosomal abnormalities, critically, genetic conditions, infants, intronic retrotransposon, patients, rare, rare disease

Mesh Descriptor

Author Name	Affiliation
Karin S Kassahn
Karin S Kassahn	Adelaide Medical School, The University of Adelaide
Stefanie Eggers	Victorian Clinical Genetics Services, Murdoch Children's Research Institute
Alison G Compton	Victorian Clinical Genetics Services, Murdoch Children's Research Institute
Alison G Compton	Murdoch Children's Research Institute
Alison G Compton	University of Melbourne
David R Thorburn	Victorian Clinical Genetics Services, Murdoch Children's Research Institute
David R Thorburn	Murdoch Children's Research Institute
David R Thorburn	University of Melbourne
Kathryn N North	University of Melbourne
Kathryn N North
Kathryn N North	Murdoch Children's Research Institute
John Christodoulou	University of Melbourne
John Christodoulou
John Christodoulou	Children's Hospital Westmead Clinical School, University of Sydney
John Christodoulou	Murdoch Children's Research Institute
Zornitza Stark	Victorian Clinical Genetics Services, Murdoch Children's Research Institute
Zornitza Stark	University of Melbourne
Zornitza Stark

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