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    • Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms 

      Wright, C. F.; Quaife, N. M.; Ramos-Hernández, L.; Danecek, P.; Ferla, M. P.; Samocha, K. E.; Kaplanis, J.; Gardner, E. J.; Eberhardt, R. Y.; Chao, K. R.; Karczewski, K. J.; Morales, J.; Gallone, G.; Balasubramanian, M.; Banka, S.; Gompertz, L.; Kerr, B.; Kirby, A.; Lynch, S. A.; Morton, J. E. V.; Pinz, H.; Sansbury, F. H.; Stewart, H.; Zuccarelli, B. D.; Cook, S. A.; Taylor, J. C.; Juusola, J.; Retterer, K.; Firth, H. V.; Hurles, M. E.; Lara-Pezzi, E.; Barton, P. J. R.; Whiffin, N. (Cell Press, 2021-05-21)
      Clinical genetic testing of protein-coding regions identifies a likely causative variant in only around half of developmental disorder (DD) cases. The contribution of regulatory variation in non-coding regions to rare ...