Now showing items 1-2 of 2

    • Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders 

      Gardner, E. J.; Sifrim, A.; Lindsay, S. J.; Prigmore, E.; Rajan, D.; Danecek, P.; Gallone, G.; Eberhardt, R. Y.; Martin, H. C.; Wright, C. F.; FitzPatrick, D. R.; Firth, H. V.; Hurles, M. E. (Cell Press, 2021-11-04)
      Structural variation (SV) describes a broad class of genetic variation greater than 50 bp in size. SVs can cause a wide range of genetic diseases and are prevalent in rare developmental disorders (DDs). Individuals presenting ...
    • 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 ...