An eight-year review of the accuracy of genetic testing in Fabry disease. [POSTER]
D. Cregeen, F. Khawaja and Z. Deans
2022 Society for Study of Inborn Errors of Metabolism (SSIEM), Freiburg, Germany
Between Laboratory Reproducibility of DNA Extraction from Human Blood and Fresh Frozen Tissue
Burke D, Pinheiro L, Glover ES, Moon F, Deans Z, Corner A. Between Laboratory Reproducibility of DNA Extraction from Human Blood and Fresh Frozen Tissue. J Mol Diagn. 2022 Jul 11:S1525-1578(22)00168-4. doi: 10.1016/j.jmoldx.2022.06.003. Epub ahead of print. PMID: 35835375.
R Hastings, M Tabiner and Z Deans. 2022 European Society of Human Genetics, Vienna, Austria
Standardising the variability of variant classification. [POSTER]
Z. Deans, D. Cregeen, J. Fairley, F. Khawaja, M. Sales, M. Tabiner, R. Treacy and R. Hastings. 2022 European Society of Human Genetics, Vienna, Austria
Review of the DNA quantification external quality assessment. [POSTER]
F Moon and Z Deans. 2022 European Society of Human Genetics, Vienna, Austria