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Page 1
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Among authors: deans zc. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Reporting of molecular test results from cell-free DNA analyses: expert consensus recommendations from the 2023 European Liquid Biopsy Society ctDNA Workshop.
de Jager VD, Giacomini P, Fairley JA, Toledo RA, Patton SJ, Joosse SA, Koch C, Deans ZC; ELBS ctDNA Workshop Group; Pantel K, Heitzer E, Schuuring E. de Jager VD, et al. Among authors: deans zc. EBioMedicine. 2025 Apr;114:105636. doi: 10.1016/j.ebiom.2025.105636. Epub 2025 Mar 22. EBioMedicine. 2025. PMID: 40121940 Free PMC article. Review.
Fostering the implementation of liquid biopsy in clinical practice: meeting report 2024 of the European Liquid Biopsy Society (ELBS).
Pantel K, Alix-Panabières C, Hofman P, Stoecklein NH, Lu YJ, Lianidou E, Giacomini P, Koch C, de Jager V, Deans ZC, Fairley J, Patton SJ, Toledo RA, Schuuring E, Heitzer E, Hendrix A, Ricklefs FL, Thakur BK, von Bubnoff N, Pierga JY, Gebhardt C, Andersen CL, Fijneman R, Malats N, Hallermayr A, Chelala C, Joosse SA, Ciliberto G. Pantel K, et al. Among authors: deans zc. J Exp Clin Cancer Res. 2025 May 23;44(1):156. doi: 10.1186/s13046-025-03398-4. J Exp Clin Cancer Res. 2025. PMID: 40410806 Free PMC article. No abstract available.
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.
Ellard S, Morgan S, Wynn SL, Walker S, Parrish A, Mein R, Juett A, Ahn JW, Berry I, Cassidy EJ, Durkie M, Fish L, Hall R, Howard E, Rankin J, Wright CF, Deans ZC, Scott RH, Hill SL, Baple EL, Taylor RW; Association for Clinical Genomic Science Rare Disease Position Statement Working Group. Ellard S, et al. Among authors: deans zc. J Med Genet. 2024 Nov 25;61(12):1103-1112. doi: 10.1136/jmg-2024-110228. J Med Genet. 2024. PMID: 39327040 Free PMC article.
Recommendations for reporting results of diagnostic genomic testing.
Deans ZC, Ahn JW, Carreira IM, Dequeker E, Henderson M, Lovrecic L, Õunap K, Tabiner M, Treacy R, van Asperen CJ. Deans ZC, et al. Eur J Hum Genet. 2022 Sep;30(9):1011-1016. doi: 10.1038/s41431-022-01091-0. Epub 2022 Apr 1. Eur J Hum Genet. 2022. PMID: 35361922 Free PMC article.
The ins and outs of molecular pathology reporting.
Tack V, Dufraing K, Deans ZC, van Krieken HJ, Dequeker EMC. Tack V, et al. Among authors: deans zc. Virchows Arch. 2017 Aug;471(2):199-207. doi: 10.1007/s00428-017-2108-0. Epub 2017 Mar 26. Virchows Arch. 2017. PMID: 28343306 Review.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Among authors: deans zc. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.
44 results