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Research

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

  • Aaron R. Jeffries
  • Reza Maroofian
  • Claire G. Salter
  • Barry A. Chioza
  • Harold E. Cross
  • Michael A. Patton Emma Dempster I. Karen Temple Deborah J.G. Mackay Faisal I. Rezwan Lise Aksglaede Diana Baralle Tabib Dabir Matthew F. Hunter Arveen Kamath Ajith Kumar Ruth Newbury-Ecob Angelo Selicorni Amanda Springer Lionel Van Maldergem Vinod Varghese Naomi Yachelevich
  • ... [+17 authors] ...,
  • Katrina Tatton-Brown
  • Jonathan Mill
  • Andrew H. Crosby
  • Emma L. Baple
  • First Published June 3, 2019
Research

Pathogenicity and selective constraint on variation near splice sites

  • Jenny Lord
  • Giuseppe Gallone
  • Patrick J. Short
  • Jeremy F. McRae
  • Holly Ironfield
  • Elizabeth H. Wynn Sebastian S. Gerety Liu He Bronwyn Kerr Diana S. Johnson Emma McCann Esther Kinning Frances Flinter I. Karen Temple Jill Clayton-Smith Meriel McEntagart Sally Ann Lynch Shelagh Joss Sofia Douzgou Tabib Dabir Virginia Clowes Vivienne P.M. McConnell Wayne Lam Caroline F. Wright
  • ... [+19 authors] ...,
  • David R. FitzPatrick
  • Helen V. Firth
  • Jeffrey C. Barrett
  • Matthew E. Hurles
  • First Published December 26, 2018
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