| 5 July 2019 | Clinically-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 2018 | Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
| Niemi, MEK; Martin, HC; Rice, DL; et al. |
| 1 August 2016 | Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
| Sifrim, A; Hitz, M-P; Wilsdon, A; 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. |
| 11 November 2013 | The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
| Köhler, S; Doelken, SC; Mungall, CJ; et al. |
| 11 January 2018 | Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
| Wright, CF; McRae, JF; Clayton, S; 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. |
| 24 February 2017 | Returning genome sequences to research participants: Policy and practice.
| Wright, CF; Middleton, A; Barrett, JC; 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. |
