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  • Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program

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Diagnostics
Original research
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program

Authors

  • Thomas Cloney Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Lyndon Gallacher Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Lynn S Pais Center for Mendelian Genomics, Eli and Edythe L Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Natalie B Tan Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Alison Yeung Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Zornitza Stark Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Natasha J Brown Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • George McGillivray Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Martin B Delatycki Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Michelle G de Silva Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Lilian Downie Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Chloe A Stutterd Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Justine Elliott Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Alison G Compton Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Alysia Lovgren Center for Mendelian Genomics, Eli and Edythe L Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA Analytic and Translational Genomics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Ralph Oertel Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • David Francis Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Katrina M Bell Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Bioinformatics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Simon Sadedin Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Sze Chern Lim Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Guy Helman Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Cas Simons Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Translational Bioinformatics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Daniel G Macarthur Center for Mendelian Genomics, Eli and Edythe L Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA Centre for Population Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • David R Thorburn Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Anne H O'Donnell-Luria Center for Mendelian Genomics, Eli and Edythe L Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • John Christodoulou Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia Neurodevelopmental Genomics Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Susan M White Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Tiong Yang Tan Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  1. Correspondence to Professor Tiong Yang Tan, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; tiong.tan{at}vcgs.org.au
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Citation

Cloney T, Gallacher L, Pais LS, et al
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria’s Undiagnosed Diseases Program
Journal of Medical Genetics 2022;59:748-758.

Publication history

  • Received May 2, 2021
  • Accepted September 14, 2021
  • First published November 5, 2021.
Online issue publication 
July 21, 2022

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© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.