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Protocol
A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort

Authors

  • Lilian Downie Victorian Clinical Genetics Services, Victoria, Melbourne, Australia Murdoch Children’s Research Institute, Victoria, Melbourne, Australia Royal Children’s Hospital, Victoria, Melbourne, Australia Department of Paediatrics, University of Melbourne, Victoria, Melbourne, Australia PubMed articlesGoogle scholar articles
  • Jane L Halliday Murdoch Children’s Research Institute, Victoria, Melbourne, Australia Department of Paediatrics, University of Melbourne, Victoria, Melbourne, Australia PubMed articlesGoogle scholar articles
  • Rachel A Burt Murdoch Children’s Research Institute, Victoria, Melbourne, Australia Department of Paediatrics, University of Melbourne, Victoria, Melbourne, Australia PubMed articlesGoogle scholar articles
  • Sebastian Lunke Victorian Clinical Genetics Services, Victoria, Melbourne, Australia Murdoch Children’s Research Institute, Victoria, Melbourne, Australia Department of Paediatrics, University of Melbourne, Victoria, Melbourne, Australia PubMed articlesGoogle scholar articles
  • Elly Lynch Melbourne Genomics Health Alliance, Victoria, Melbourne, Australia Austin Health, Victoria, Melbourne, Australia PubMed articlesGoogle scholar articles
  • Melissa Martyn Murdoch Children’s Research Institute, Victoria, Melbourne, Australia Melbourne Genomics Health Alliance, Victoria, Melbourne, Australia PubMed articlesGoogle scholar articles
  • Zeffie Poulakis Murdoch Children’s Research Institute, Victoria, Melbourne, Australia Royal Children’s Hospital, Victoria, Melbourne, Australia Department of Paediatrics, University of Melbourne, Victoria, Melbourne, Australia PubMed articlesGoogle scholar articles
  • Clara Gaff Department of Paediatrics, University of Melbourne, Victoria, Melbourne, Australia Melbourne Genomics Health Alliance, Victoria, Melbourne, Australia PubMed articlesGoogle scholar articles
  • Valerie Sung Murdoch Children’s Research Institute, Victoria, Melbourne, Australia Royal Children’s Hospital, Victoria, Melbourne, Australia Department of Paediatrics, University of Melbourne, Victoria, Melbourne, Australia PubMed articlesGoogle scholar articles
  • Melissa Wake Murdoch Children’s Research Institute, Victoria, Melbourne, Australia Department of Paediatrics, University of Melbourne, Victoria, Melbourne, Australia University of Auckland, Auckland, New Zealand PubMed articlesGoogle scholar articles
  • Matthew Hunter Monash Health, Victoria, Melbourne, Australia Monash University, Victoria, Melbourne, Australia PubMed articlesGoogle scholar articles
  • Kerryn Saunders Monash Health, Victoria, Melbourne, Australia Monash University, Victoria, Melbourne, Australia PubMed articlesGoogle scholar articles
  • Elizabeth Rose Murdoch Children’s Research Institute, Victoria, Melbourne, Australia Royal Children’s Hospital, Victoria, Melbourne, Australia Department of Paediatrics, University of Melbourne, Victoria, Melbourne, Australia PubMed articlesGoogle scholar articles
  • Heidi L Rehm Brigham and Women’s Hospital and Harvard Medical School, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • David J Amor Victorian Clinical Genetics Services, Victoria, Melbourne, Australia Murdoch Children’s Research Institute, Victoria, Melbourne, Australia Royal Children’s Hospital, Victoria, Melbourne, Australia Department of Paediatrics, University of Melbourne, Victoria, Melbourne, Australia PubMed articlesGoogle scholar articles
  1. Correspondence to Professor David J Amor; david.amor{at}mcri.edu.au
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Citation

Downie L, Halliday JL, Burt RA, et al
A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort
BMJ Paediatrics Open 2017;1:e000119. doi: 10.1136/bmjpo-2017-000119

Publication history

  • Received May 30, 2017
  • Revised July 31, 2017
  • Accepted August 2, 2017
  • First published September 14, 2017.
Online issue publication 
August 20, 2020
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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted. This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/