Esposito Abate, R., Cheetham, M.H., Fairley, J.A. et al. External quality assessment (EQA) for tumor mutational burden: results of an international IQN path feasibility pilot scheme. Virchows Arch (2022). https://doi.org/10.1007/s00428-022-03444-y
Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders
Deans ZC, Biricik A, De Rycke M, Harton GL, Hornak M, Khawaja F, Moutou C, Traeger-Synodinos J, Renwick P. Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders. Prenat Diagn. 2022 Nov 12. doi: 10.1002/pd.6263. Epub ahead of print. PMID: 36371615.
Van den Veyver IB, Yaron Y, Deans ZC. International Society for Prenatal Diagnosis 2022 debate 3-Fetal genome sequencing should be offered to all pregnant patients. Prenat Diagn. 2022 Oct 11. doi: 10.1002/pd.6247. Epub ahead of print. PMID: 36221164.
Access and quality of biomarker testing for precision oncology in Europe
Nicola Normanno, Kathi Apostolidis, Audrey Wolf, Raed Al Dieri, Zandra Deans, Jenni Fairley, Jörg Maas, Antonio Martinez, Holger Moch, Søren Nielsen, Thomas Pilz, Etienne Rouleau, Simon Patton, Victoria Williams. Access and quality of biomarker testing for precision oncology in Europe, European Journal of Cancer, Volume 176, 2022, Pages 70-77,
https://doi.org/10.1016/j.ejca.2022.09.005.
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