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Paper Details

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
J Med Genet
10
2022
RNA, Undiagnosed Diseases, Undiagnosed diseases, chromosomal microarray, disease genes, family ES, monogenic rare diseases, paediatric rare diseases
Author NameAffiliation
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute
Zornitza StarkThe University of Melbourne
Alison G ComptonThe University of Melbourne
Alison G ComptonMurdoch Children's Research Institute
Daniel G MacArthurCenter for Mendelian Genomics, Eli and Edythe L Broad Institute of Harvard and MIT
Daniel G MacArthurMurdoch Children's Research Institute
Daniel G MacArthurGarvan Institute of Medical Research
Daniel G MacArthurCenter for Mendelian Genomics, Eli and Edythe L Broad Institute of Harvard and MIT
Daniel G MacArthurGarvan Institute of Medical Research
Daniel G MacArthurMurdoch Children's Research Institute
David R ThorburnVictorian Clinical Genetics Services, Murdoch Children's Research Institute
David R ThorburnMurdoch Children's Research Institute
David R ThorburnThe University of Melbourne
Anne O'Donnell-LuriaCenter for Mendelian Genomics, Eli and Edythe L Broad Institute of Harvard and MIT
Anne O'Donnell-LuriaMassachusetts General Hospital
Anne O'Donnell-LuriaBoston Children's Hospital
Anne O'Donnell-LuriaCenter for Mendelian Genomics, Eli and Edythe L Broad Institute of Harvard and MIT
Anne O'Donnell-LuriaBoston Children's Hospital
Anne O'Donnell-LuriaMassachusetts General Hospital
John ChristodoulouVictorian Clinical Genetics Services, Murdoch Children's Research Institute
John ChristodoulouThe University of Melbourne
John ChristodoulouMurdoch Children's Research Institute
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Datasets

Release 1.2