Browsing Medical Imaging by Author "Wright, CF"

Now showing items 1-14 of 14

    Issue DateTitleAuthor(s)
    25 August 2020Assessing performance of pathogenicity predictors using clinically relevant variant datasets  Gunning, AC; Fryer, V; Fasham, J; et al.
    18 January 2019Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting  Wright, CF; West, B; Tuke, M; et al.
    26 September 2018Common genetic variants contribute to risk of rare severe neurodevelopmental disorders  Niemi, MEK; Martin, HC; Rice, DL; et al.
    16 October 2019Direct-to-consumer genetic testing  Horton, R; Crawford, G; Freeman, L; 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.
    22 June 2020Large copy number variants in UK Biobank caused by clonal haematopoiesis may confound penetrance estimates  Tuke, M; Tyrrell, J; Ruth, K; et al.
    21 May 2021Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms  Wright, CF; Quaife, NM; Ramos-Hernández, L; 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.
    30 January 2020Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism  Gunning, AC; Strucinska, K; Muñoz Oreja, M; 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.
    16 February 2021Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation  Weedon, MN; Jackson, L; Harrison, JW; et al.
    27 September 2019Using structural analysis in silico to assess the impact of missense variants in MEN1  Caswell, RC; Owens, MM; Gunning, AC; et al.