Quantifying the contribution of recessive coding variation to developmental disorders

Martin, H.C., Jones, W.D., McIntyre, R. et al. (37 more authors) (2018) Quantifying the contribution of recessive coding variation to developmental disorders. Science, 362 (6419). pp. 1161-1164. ISSN 0036-8075

Abstract

Metadata

Authors/Creators:
  • Martin, H.C.
  • Jones, W.D.
  • McIntyre, R.
  • Sanchez-Andrade, G.
  • Sanderson, M.
  • Stephenson, J.D.
  • Jones, C.P.
  • Handsaker, J.
  • Gallone, G.
  • Bruntraeger, M.
  • McRae, J.F.
  • Prigmore, E.
  • Short, P.
  • Niemi, M.
  • Kaplanis, J.
  • Radford, E.J.
  • Akavvi, N.
  • Balasubramanian, M. https://orcid.org/0000-0003-1488-3695
  • Dean, J.
  • Horton, R.
  • Hulbert, A.
  • Johnson, D.S.
  • Johnson, K.
  • Kumar, D.
  • Lynch, S.A.
  • Mehta, S.G.
  • Morton, J.
  • Parker, M.J.
  • Splitt, M.
  • Turnpenny, P.D.
  • Vasudevan, P.C.
  • Wright, M.
  • Bassett, A.
  • Gerety, S.S.
  • Wright, C.F.
  • FitzPatrick, D.R.
  • Firth, H.V.
  • Hurles, M.E.
  • Barrett, J.C.
  • Study, D.D.D.
Copyright, Publisher and Additional Information: © 2018 The Authors.
Dates:
  • Published (online): 7 December 2018
  • Published: 7 December 2018
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Human Metabolism (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 11 Feb 2019 12:00
Last Modified: 11 Feb 2019 12:00
Published Version: https://doi.org/10.1126/science.aar6731
Status: Published
Publisher: American Association for the Advancement of Science
Refereed: Yes
Identification Number: https://doi.org/10.1126/science.aar6731
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