Lenassi, E, Clayton-Smith, J, Douzgou, S, Ramsden, S C, Ingram, S, Hall, G, Hardcastle, C L, Fletcher, T A, Taylor, R L, Ellingford, J M, Newman, W D, Fenerty, C, Sharma, V, Lloyd, I C, Biswas, S, Ashworth, J L, Black, G C & Sergouniotis, P I 2020, ' Clinical utility of genetic testing in 201 preschool children with inherited eye disorders ', Genetics in Medicine, vol. 22, no. 4, pp. 745-751 . https://doi.org/10.1038/s41436-019-0722-8 Genet Med Genetics in Medicine
Thorbinson, C, Penn, A, Nicola, P, Hardcastle, C L, Waller, S, Ramsden, S, Coorens, T H H, Tang, V, Cheesman, E, Douzgou, S & Meyer, S 2022, ' Embryonal sarcoma of the liver in a girl with Cockayne Syndrome ', Clinical Genetics .
Uk Inherited Retinal Disease Consortium 2020, ' Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-019-0548-5 European Journal of Human Genetics