Now showing items 1-7 of 7

    Issue DateTitleAuthor(s)
    5 July 2019Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data  Wright, C; Prigmore, E; Rajan, D; et al.
    26 September 2018Common genetic variants contribute to risk of rare severe neurodevelopmental disorders  Niemi, MEK; Martin, HC; Rice, DL; et al.
    14 October 2020Evidence for 28 genetic disorders discovered by combining healthcare and research data  Kaplanis, J; Samocha, KE; Wiel, L; et al.
    10 October 2019Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data  Aitken, S; Firth, HV; McRae, J; et al.
    21 March 2018De novo mutations in regulatory elements in neurodevelopmental disorders  Short, PJ; McRae, JF; Gallone, G; et al.
    7 December 2018Quantifying the contribution of recessive coding variation to developmental disorders  Gallone, G; Bruntraeger, M; McRae, JF; et al.
    18 February 2021Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders  Copeland, H; Kivuva, E; Firth, HV; et al.