1. Carss, Keren J, Arno, Gavin, Erwood, Marie, Webster, Andrew R, Raymond, F Lucy. 2016. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. In American journal of human genetics, 100, 75-90. doi:10.1016/j.ajhg.2016.12.003. https://pubmed.ncbi.nlm.nih.gov/28041643/
2. De Silva, Samantha R, Arno, Gavin, Robson, Anthony G, Webster, Andrew R, Mahroo, Omar A. 2020. The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies. In Progress in retinal and eye research, 82, 100898. doi:10.1016/j.preteyeres.2020.100898. https://pubmed.ncbi.nlm.nih.gov/32860923/
3. Nik-Zainal, Serena, Davies, Helen, Staaf, Johan, Thomas, Gilles, Stratton, Michael R. 2016. Landscape of somatic mutations in 560 breast cancer whole-genome sequences. In Nature, 534, 47-54. doi:10.1038/nature17676. https://pubmed.ncbi.nlm.nih.gov/27135926/
4. Kuzbari, Z, Bandlamudi, C, Loveday, C, Mandelker, D, Turnbull, C. 2022. Germline-focused analysis of tumour-detected variants in 49,264 cancer patients: ESMO Precision Medicine Working Group recommendations. In Annals of oncology : official journal of the European Society for Medical Oncology, 34, 215-227. doi:10.1016/j.annonc.2022.12.003. https://pubmed.ncbi.nlm.nih.gov/36529447/
5. Ellingford, Jamie M, Ahn, Joo Wook, Bagnall, Richard D, Harrison, Steven M, Whiffin, Nicola. 2022. Recommendations for clinical interpretation of variants found in non-coding regions of the genome. In Genome medicine, 14, 73. doi:10.1186/s13073-022-01073-3. https://pubmed.ncbi.nlm.nih.gov/35850704/
6. Pagnamenta, Alistair T, Kaisaki, Pamela J, Bennett, Fenella, Taylor, Jenny C, Stewart, Helen. 2019. Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome. In Clinical genetics, 95, 693-703. doi:10.1111/cge.13533. https://pubmed.ncbi.nlm.nih.gov/30859559/
7. Brooks, S P, Ebenezer, N D, Poopalasundaram, S, Moore, A T, Hardcastle, A J. . Identification of the gene for Nance-Horan syndrome (NHS). In Journal of medical genetics, 41, 768-71. doi:. https://pubmed.ncbi.nlm.nih.gov/15466011/