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Structural variation and missense mutation in SBDSassociated with Shwachman-Diamond syndrome

  • Claudia M B Carvalho1, 2,
  • Luciana W Zuccherato1,
  • Christopher L Williams4,
  • Nicholas J Neill1,
  • David R Murdock3,
  • Matthew Bainbridge3,
  • Shalini N Jhangiani3,
  • Donna M Muzny3,
  • Richard A Gibbs3,
  • Wan Ip6,
  • Robert Paul Guillerman5, 7,
  • James R Lupski1, 4, 5 and
  • Alison A Bertuch1, 4, 5Email author
BMC Medical Genetics201415:64

DOI: 10.1186/1471-2350-15-64

Received: 13 March 2014

Accepted: 29 May 2014

Published: 4 June 2014

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Open Peer Review reports

Pre-publication versions of this article and author comments to reviewers are available by contacting

Original Submission
13 Mar 2014 Submitted Original manuscript
Resubmission - Version 2
Submitted Manuscript version 2
27 Mar 2014 Reviewed Reviewer Report - Cesare Danesino
8 Apr 2014 Reviewed Reviewer Report - Barbara Triggs-Raine
14 May 2014 Author responded Author comments - Alison Bertuch
Resubmission - Version 3
14 May 2014 Submitted Manuscript version 3
22 May 2014 Author responded Author comments - Alison Bertuch
Resubmission - Version 4
22 May 2014 Submitted Manuscript version 4
29 May 2014 Editorially accepted
4 Jun 2014 Article published 10.1186/1471-2350-15-64

How does Open Peer Review work?

Open peer review is a system where authors know who the reviewers are, and the reviewers know who the authors are. If the manuscript is accepted, the named reviewer reports are published alongside the article.. All previous versions of the manuscript and all author responses to the reviewers are also available.

You can find further information about the peer review system here.

Authors’ Affiliations

Department of Molecular and Human Genetics, Baylor College of Medicine
Centro de Pesquisas René Rachou – FIOCRUZ
Human Genome Sequencing Center, Baylor College of Medicine
Department of Pediatrics, Baylor College of Medicine
Texas Children’s Hospital
Program in Physiology and Experimental Medicine, The Research Institute, The Hospital for Sick Children
Department of Radiology, Baylor College of Medicine