Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

Sabir, A.H., Morley, E., Sheikh, J. et al. (11 more authors) (2021) Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era. BMC Medical Genomics, 14 (1). 148.



  • Sabir, A.H.
  • Morley, E.
  • Sheikh, J.
  • Calder, A.D.
  • Beleza-Meireles, A.
  • Cheung, M.S.
  • Cocca, A.
  • Jansson, M.
  • Lillis, S.
  • Patel, Y.
  • Yau, S.
  • Hall, C.M.
  • Offiah, A.C. ORCID logo https://orcid.org/0000-0001-8991-5036
  • Irving, M.
Copyright, Publisher and Additional Information: © The Author(s) 2021. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
Keywords: Mendelian; Molecular genetic test; Monogenic; Next-generation sequencing; Skeletal dysplasia; Exome sequencing; Genome sequencing; Yield
  • Accepted: 28 May 2021
  • Published (online): 6 June 2021
  • Published: 6 June 2021
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 15 Jul 2021 07:12
Last Modified: 15 Jul 2021 07:12
Status: Published
Publisher: BioMed Central
Refereed: Yes
Identification Number: https://doi.org/10.1186/s12920-021-00993-0
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