Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes

Burrage, L.C., Reynolds, J.J., Baratang, N.V. et al. (57 more authors) (2019) Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes. American Journal of Human Genetics. ISSN 0002-9297

Abstract

Metadata

Authors/Creators:
  • Burrage, L.C.
  • Reynolds, J.J.
  • Baratang, N.V.
  • Phillips, J.B.
  • Wegner, J.
  • McFarquhar, A.
  • Higgs, M.R.
  • Christiansen, A.E.
  • Lanza, D.G.
  • Seavitt, J.R.
  • Jain, M.
  • Li, X.
  • Parry, D.A.
  • Raman, V.
  • Chitayat, D.
  • Chinn, I.K.
  • Bertuch, A.A.
  • Karaviti, L.
  • Schlesinger, A.E.
  • Earl, D.
  • Bamshad, M.
  • Savarirayan, R.
  • Doddapaneni, H.
  • Muzny, D.
  • Jhangiani, S.N.
  • Eng, C.M.
  • Gibbs, R.A.
  • Bi, W.
  • Emrick, L.
  • Rosenfeld, J.A.
  • Postlethwait, J.
  • Westerfield, M.
  • Dickinson, M.E.
  • Beaudet, A.L.
  • Ranza, E.
  • Huber, C.
  • Cormier-Daire, V.
  • Shen, W.
  • Mao, R.
  • Heaney, J.D.
  • Orange, J.S.
  • University of Washington Center for Mendelian Genomics,
  • Undiagnosed Diseases Network,
  • Bertola, D.
  • Yamamoto, G.L.
  • Baratela, W.A.R.
  • Butler, M.G.
  • Ali, A.
  • Adeli, M.
  • Cohn, D.H.
  • Krakow, D.
  • Jackson, A.P.
  • Lees, M.
  • Offiah, A.C. https://orcid.org/0000-0001-8991-5036
  • Carlston, C.M.
  • Carey, J.C.
  • Stewart, G.S.
  • Bacino, C.A.
  • Campeau, P.M.
  • Lee, B.
Copyright, Publisher and Additional Information: © 2019 American Society of Human Genetics. This is an author produced version of a paper subsequently published in American Journal of Human Genetics. Uploaded in accordance with the publisher's self-archiving policy. Article available under the terms of the CC-BY-NC-ND licence (https://creativecommons.org/licenses/by-nc-nd/4.0/).
Keywords: DNA repair; DNA replication; SPONASTRIME dysplasia; TONSL; exome sequencing; skeletal dysplasia
Dates:
  • Accepted: 17 January 2019
  • Published (online): 14 February 2019
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 21 Feb 2019 12:59
Last Modified: 14 Aug 2019 00:43
Published Version: https://doi.org/10.1016/j.ajhg.2019.01.007
Status: Published online
Publisher: Elsevier
Refereed: Yes
Identification Number: https://doi.org/10.1016/j.ajhg.2019.01.007
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