25 August 2020 | Assessing performance of pathogenicity predictors using clinically relevant variant datasets
| Gunning, AC; Fryer, V; Fasham, J; et al. |
18 January 2019 | Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
| Wright, CF; West, B; Tuke, M; et al. |
26 September 2018 | Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
| Niemi, MEK; Martin, HC; Rice, DL; et al. |
16 October 2019 | Direct-to-consumer genetic testing
| Horton, R; Crawford, G; Freeman, L; et al. |
14 October 2020 | Evidence for 28 genetic disorders discovered by combining healthcare and research data
| Kaplanis, J; Samocha, KE; Wiel, L; et al. |
10 October 2019 | Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
| Aitken, S; Firth, HV; McRae, J; et al. |
22 June 2020 | Large copy number variants in UK Biobank caused by clonal haematopoiesis may confound penetrance estimates
| Tuke, M; Tyrrell, J; Ruth, K; et al. |
21 May 2021 | Non-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 2018 | De novo mutations in regulatory elements in neurodevelopmental disorders
| Short, PJ; McRae, JF; Gallone, G; et al. |
7 December 2018 | Quantifying the contribution of recessive coding variation to developmental disorders
| Gallone, G; Bruntraeger, M; McRae, JF; et al. |
30 January 2020 | Recurrent 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 2021 | Systematic 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 2021 | Use of SNP chips to detect rare pathogenic variants: retrospective, population based diagnostic evaluation
| Weedon, MN; Jackson, L; Harrison, JW; et al. |
27 September 2019 | Using structural analysis in silico to assess the impact of missense variants in MEN1
| Caswell, RC; Owens, MM; Gunning, AC; et al. |