Rachel L. Taylor

1. TAYLOR, Rachel L., PARRY, Neil R.A., BARTON, Stephanie J., CAMPBELL, Christopher, DELANEY, Claire M., ELLINGFORD, Jamie M, HALL, Georgina, HARDCASTLE, Claire, MORARJI, Jiten, SERGOUNIOTIS, Panagiotis I., et al. Panel-based clinical genetic testing in 85 children with inherited retinal disease. Ophthalmology. [Print ed.]. Jul. 2017, vol. 124, no. 7, str. 985-991, ilustr. ISSN 0161-6420. https://www.sciencedirect.com/science/article/pii/S0161642016323302?via%3Dihub, DOI: 10.1016/j.ophtha.2017.02.005. [COBISS.SI-ID 34283993]

2. ELLINGFORD, Jamie M, CAMPBELL, Christopher, BARTON, Stephanie J., BHASKAR, Sanjeev S, GUPTA, Saurabh, TAYLOR, Rachel L., SERGOUNIOTIS, Panagiotis I., HORN, Bradley, LAMB, Janine A, MICHAELIDES, Michel, et al. Validation of copy number variation analysis fornext-generation sequencing diagnostics. European journal of human genetics. Jun. 2017, iss. 6, vol. 25, str. 719-724, ilustr. ISSN 1018-4813. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427176/pdf/ejhg201742a.pdf, DOI: 10.1038/ejhg.2017.42. [COBISS.SI-ID 34308057]

3. ELLINGFORD, Jamie M, HORN, Bradley, CAMPBELL, Christopher, ARNO, Gavin, BARTON, Stephanie J., TATE, Catriona, BHASKAR, Sanjeev S, SERGOUNIOTIS, Panagiotis I., TAYLOR, Rachel L., CARSS, Keren J, et al. Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases. Journal of Medical Genetics. Feb. 2018, vol. 55, iss. 2, str. 114-121, ilustr. ISSN 0022-2593. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800348/pdf/jmedgenet-2017-104791.pdf, DOI: 10.1136/jmedgenet-2017-104791. [COBISS.SI-ID 34307801]

4. LENASSI, Eva, CLAYTON-SMITH, Jill, DOUZGOU, Sofia, RAMSDEN, Simon C., INGRAM, Stuart, HALL, Georgina, HARDCASTLE, Claire L. H, FLETCHER, Tracy, TAYLOR, Rachel L., SERGOUNIOTIS, Panagiotis I., et al. Clinical utility of genetic testing in 201 preschool children with inherited eye disorders. Genetics in medicine. Apr. 2020, vol. 22, iss. 4, str. 745-751. ISSN 1098-3600. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118019/pdf/41436_2019_Article_722.pdf, DOI: 10.1038/s41436-019-0722-8. [COBISS.SI-ID 49761283]

5. MAVER, Aleš, LOHMANN, Katja, BOROVEČKI, Fran, WOLSTENHOLME, Nicola, TAYLOR, Rachel L., SPIELMANN, Malte, HAACK, Tobias B., GERBERDING, Matthias, PETERLIN, Borut, GRAESSNER, Holm. Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network. European journal of human genetics. 2024, vol. 32, iss. 8, str. 1014–1021. ISSN 1476-5438. DiRROS - Digitalni repozitorij raziskovalnih organizacij Slovenije, DOI: 10.1038/s41431-024-01639-2. [COBISS.SI-ID 240037379]