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Zandra C. Deans, Jennifer Fairley, Patrizio Giacomini, Vincent D. de Jager, Simon A. Joosse, Claudia Koch, Simon J. Patton, Ed Schuuring, Rodrigo Toledo, Ellen Heitzer and the ELBS ctDNA Workshop group
6th Annual Congress Liquid Biopsy (ISLB), Denver, Colorado, USA
Assessing the performance of cfDNA extraction from plasma
Zandra Deans, Jennifer Fairley, Krystyna Nahlik, Sanchita Jamindar and Fiona Moon
6th Annual Congress Liquid Biopsy (ISLB), Denver, Colorado, USA
A. Kolozi, R. Treacy, R. Hastings and Z. Deans
American Society of Human Genetics (ASHG) 2024, Denver, USA
HGVS Nomenclature 2024: Improvements to community engagement, usability, and computability
Hart RK, Fokkema IFAC, DiStefano M, Hastings R, Laros JFJ, Taylor R, Wagner AH, den Dunnen JT. HGVS Nomenclature 2024: improvements to community engagement, usability, and computability. Genome Med. 2024 Dec 20;16(1):149. doi: 10.1186/s13073-024-01421-5. PMID: 39702242; PMCID: PMC11660784.
Accurately assessing the quality and quantity of cfDNA extractions
Fiona Moon, Jennifer A Fairley, Sanchita Jamindar, Krystyna Nahlik, Zandra C Deans.
36th European Congress of Pathology (ECP) 2024, Florence, Italy
Developing EQA for HRD testing in ovarian cancer
Jennifer A Fairley, Zandra C Deans
36th European Congress of Pathology (ECP) 2024, Florence, Italy
Annual review of GenQA activities from April 2023-March 2024.
Global practice to carrier screening - through external quality assessment [POSTER]
Zandra Deans, Dean Phelan, Rostislav Navratil, Dave Cregeen
International Society for Prenatal Diagnosis (ISPD) 2024, Boston, USA
The challenges of providing cfDNA somatic variant testing in clinical practice [POSTER]
Zandra Deans, Melanie Cheetham, Simon Patton and Jennifer Fairley
Emirates Surgical Pathology conference 2024, Dubai
Inter laboratory variability in DNA extraction from fresh tissue - A 2023 EQA review [POSTER]
Fiona Moon and Zandra Deans
European Human Genetics conference (ESHG) 2024, Berlin, Germany
Development of an external quality assessment for trio exome sequencing [POSTER]
Dave Cregeen, J Baptista, H Robinson, K Stals and Z Deans
European Human Genetics conference (ESHG) 2024, Berlin, Germany
M.Tabiner, D.Cregeen, F.Khawaja, M.Sales, R.Treacy and Z.Deans
International Symposium of Variants in the Genome (ISV) 2024, Porto, Portugal
Introducing GENie, a genomics online individual education platform [POSTER]
M.Tabiner, D.Cregeen, F.Khawaja, M.Sales, R.Treacy and S.Deans
Joint UK/Dutch Clinical Genetics Societies & Cancer Genetics Groups Meeting 2024, London, UK
ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024
Miranda Durkie, Emma-Jane Cassidy, Ian Berry, Martina Owens, Clare Turnbull, Richard H Scott, Robert W Taylor, Zandra C Deans, Sian Ellard, Emma L Baple and Dominic J McMullan. https://www.acgs.uk.com/quality/best-practice-guidelines/
A framework for the clinical implementation of optical genome mapping in hematologic malignancies.
Levy B, Kanagal-Shamanna R, Sahajpal NS, Neveling K, Rack K, Dewaele B, Olde Weghuis D, Stevens-Kroef M, Puiggros A, Mallo M, Clifford B, Mantere T, Hoischen A, Espinet B, Kolhe R, Solé F, Raca G, Smith AC. A framework for the clinical implementation of optical genome mapping in hematologic malignancies. Am J Hematol. 2024 Jan 2. doi: 10.1002/ajh.27175. Epub ahead of print. PMID: 38164980.
Moore S, McGowan-Jordan J, Smith AC, Rack K, Koehler U, Stevens-Kroeg M, Barseghyan H, Kanagal-Shamanna R, Hastings R; ISCN Standing Committee. Genome Mapping Nomenclature. Cytogenet Genome Res. 2023 Dec 8. doi: 10.1159/000535684. Epub ahead of print. PMID: 38071973.
Clinical genetics and genetic counselling external quality assessment (EQA) provision [POSTER]
M. Tabiner, R. Hastings, K. Rack, Z. Deans
American Society of Human Genetics (ASHG2023), Washington DC, USA
S. Deans, D. Cregeen, F. Khawaja, M. Tabiner, R. Treacy
American Society of Human Genetics (ASHG2023), Washington DC, USA
Stability of testing for microsatellite instability [POSTER]
J. Fairley, Z. Deans
European Congress of Pathology (ECP2023), Dublin, Ireland
J. Fairley, Z. Deans, M. Gupta, I. Simon
European Congress of Pathology (ECP2023), Dublin, Ireland
A review of GenQA activities from April 2022 - March 2023.
Hastings R, McGowan-Jordan J, Moore S; ISCN Standing Committee. Addenda to ISCN 2020. Cytogenet Genome Res. 2023 Jul 28. doi: 10.1159/000533170. Epub ahead of print. PMID: 37517400.
Genome Mapping nomenclature and ISCN 2024 [POSTER]
R. Hastings, Sarah Moore, Jean McGowan-Jordan
European Cytogeneticists Association (ECA2023) Montpellier, France
Jennifer A. Fairley and Zandra C. Deans
Association for Molecular Pathology (AMP2023) Milan, Italy
Standardising the variability of prenatal variant classification [POSTER]
M. Tabiner, E. Lewis, I. Simonic, J. Suela and Z. Deans
International Society for Prenatal Diagnosis (ISPD2023) Edinburgh, Scotland
GenQA Rapid Prenatal Testing for Common Aneuploidies EQA: Challenging Clinical Scenarios [POSTER]
F. Morgan, R. Hastings and Z. Deans
International Society for Prenatal Diagnosis (ISPD2023) Edinburgh, Scotland
GenQA PGT reports: Meeting the recommendations [POSTER]
Mark Sales, Anil Biricik, David Kubicek, Edith Coonen, Lorena Rodrigo Vivo, Susanne Knebel, Evangelia Bakosi, Eftychia Dimitriadou and Zandra C. Deans
International Society for Prenatal Diagnosis (ISPD2023) Edinburgh, Scotland
Improving the accuracy of reporting diagnostic genomic tests [POSTER]
R. Hastings, M. Tabiner, M. Sales, F. Morgan and Z. Deans
European Society of Human Genetics (ESHG2023) Glasgow, Scotland
Clinical genetics and genetic counselling external quality assessment (EQA) provision [POSTER]
M. Tabiner, R. Hastings, K. Rack and Z. Deans
European Society of Human Genetics (ESHG2023) Glasgow, Scotland
K. Rack, F. Morgan, R. Hastings, Z. Deans
European Society of Human Genetics (ESHG2023) Glasgow, Scotland
Fiona Moon and Zandra Deans
European Society of Human Genetics (ESHG2023) Glasgow, Scotland
Non-invasive prenatal testing EQA – improving the detection of sex chromosome aneuploidies. [POSTER]
Fiona J. Morgan, Farrah Khawaja, Weronika Gutowska-Ding, Simon J. Patton, Zandra C. Deans
European Society of Human Genetics (ESHG2023) Glasgow, Scotland
One sample, multiple results. [POSTER]
Farrah Khawaja, D. Cregeen, L. Slater, I. Berry, M.P. Lombardi, D. O'Sullivan, S. Palmer-Smith and Z. Deans
European Society of Human Genetics (ESHG2023) Glasgow, Scotland
Dave Cregeen, M. Sales, A. Williams, T. Bradley and Z. Deans
European Society of Human Genetics (ESHG2023) Glasgow, Scotland
Fairley JA, Badrick T, Denis MG, Dimitrova L, Goodall R, Maas J, Normanno N, Patton SJ, Rouleau E, Russo A, Stockley TL, Deans ZC. Implementation of circulating tumour DNA multi-target mutation testing in plasma: a perspective from an external quality assessment providers' survey. Virchows Arch. 2023 May 19. doi: 10.1007/s00428-023-03558-x. Epub ahead of print. PMID: 37202567.
Assessing the Quality of cfDNA Somatic Variant Testing in Clinical Practice [POSTER]
Zandra Deans, Melanie Cheetham, Simon Patton and Jennifer Fairley.
4th Annual Congress Liquid Biopsy (ISLB2022), Miami, Florida, USA.
The Challenges in Classifying Fusion Transcripts [POSTER]
Zandra Deans, Pauline Rehal, Hood Mugalaasi and Jennifer Fairley.
Association for Molecular Pathology (AMP2022), Phoenix, Arizona, USA.
Becking EC, Linthorst J, Patton S, Gutowska-Ding W, Goodall R, Khawaja F, Morgan F, Deans Z, Chitty LS, Bekker MN, Scheffer PG, Sistermans EA. Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally. Clin Chem. 2022 Dec 28:hvac207. doi: 10.1093/clinchem/hvac207. Epub ahead of print. PMID: 36576352.
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
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
D. Cregeen, R. Treacy, S. Adams and Z. Deans. 2022 European Society of Human Genetics, Vienna, Austria
Evaluation of the Global Standard of NIPT clinical services [POSTER]
Zandra C. Deans, Farrah Khawaja, Weronika Gutowska-Ding, Simon J. Patton, Fiona J. Morgan. 2022 International Conference on Prenatal Diagnosis and Therapy (ISPD), Montreal, Canada
Zandra C. Deans, Anil Biricik, Martine De Rycke, Gary L. Harton, Miroslav Hornak, Farrah Khawaja, Céline Moutou, Jan Traeger-Synodinos, Pamela Renwick. 2022 International Conference on Prenatal Diagnosis and Therapy (ISPD), Montreal, Canada
Penault-Llorca, F., Kerr, K.M., Garrido, P. et al. Expert opinion on NSCLC small specimen biomarker testing — Part 2: Analysis, reporting, and quality assessment. Virchows Arch (2022). https://doi.org/10.1007/s00428-022-03344-1
Expert opinion on NSCLC small specimen biomarker testing part 1: tissue collection and management
Penault-Llorca, F., Kerr, K.M., Garrido, P. et al. Expert opinion on NSCLC small specimen biomarker testing — Part 1: Tissue collection and management. Virchows Arch (2022). https://doi.org/10.1007/s00428-022-03343-2
Results of a worldwide external quality assessment of cfDNA testing in lung Cancer
Fairley, J.A., Cheetham, M.H., Patton, S.J. et al. Results of a worldwide external quality assessment of cfDNA testing in lung Cancer. BMC Cancer 22, 759 (2022). https://doi.org/10.1186/s12885-022-09849-x
Fairley, J.A.; Deans, Z.C.; Treacy, R.J.L.; Grieg, E.; Bungartz, K.; Burton, R.; Hayes, J.; Elkin, S.K. An Independent Assessment of a Commercial Clinical Interpretation Software Indicates That Software Can Mitigate Variation in Human Assessment. J. Mol. Pathol. 2022, 3, 125–139. https://doi.org/10.3390/jmp3030012
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. Recommendations for whole genome sequencing in diagnostics for rare diseases. Eur J Hum Genet. 2022 May 16. https://doi.org/10.1038/s41431-022-01113-x
M Sales, F Khawaja, R Hastings, A Birick, D Kubicek, E Coonen, L Rodrigo Vivo, S Knebel, ZC Deans. 2022 Preimplantation Genetic Diagnosis International Society (PGDIS), Berlin, Germany.
F Khawaja, A Biricik, M De Rycke, M Hornak, C Moutou, J Traeger-Synodinos, P Renwick, ZC Deans. 2022 Preimplnatation Genetic Diagnosis International Society, Berlin, Germany.
Recommendations for reporting results of diagnostic genomic testing.
Deans ZC, Ahn JW, Carreira IM, Dequeker E, Henderson M, Lovercic L, Ounap K, Tabiner M, Treacy R and van Asperen CJ. Recommendations for reporting results of diagnostic genomic testing. Eur J Hum Genet (2022). https://doi.org/10.1038/s41431-022-01091-0
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. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. PMID: 35182509; PMCID: PMC8850201.
Ptasinska A, Whalley C, Bosworth A, Poxon C, Bryer C, Machin N, Grippon S, Wise EL, Armson B, Howson ELA, Goring A, Snell G, Forster J, Mattocks C, Frampton S, Anderson R, Cleary D, Parker J, Boukas K, Graham N, Cellura D, Garratt E, Skilton R, Sheldon H, Collins A, Ahmad N, Friar S, Burns D, Williams T, Godfrey KM, Deans Z, Douglas A, Hill S, Kidd M, Porter D, Kidd SP, Cortes NJ, Fowler V, Williams T, Richter A, Beggs AD. Diagnostic accuracy of loop-mediated isothermal amplification coupled to nanopore sequencing (LamPORE) for the detection of SARS-CoV-2 infection at scale in symptomatic and asymptomatic populations. Clin Microbiol Infect. 2021 Sep;27(9):1348.e1-1348.e7. doi: 10.1016/j.cmi.2021.04.008. Epub 2021 Apr 24. PMID: 33901668; PMCID: PMC8064897.
Zornitza Stark, Rebecca E. Foulger, Eleanor Williams, Bryony A. Thompson, Chirag Patel, Sebastian Lunke, Catherine Snow, Ivone U.S. Leong, Arina Puzriakova, Louise C. Daugherty, Sarah Leigh, Christopher Boustred, Olivia Niblock, Antonio Rueda-Martin, Oleg Gerasimenko, Kevin Savage, William Bellamy, Victor San Kho Lin, Roman Valls, Lavinia Gordon, Helen K. Brittain, Ellen R.A. Thomas, Ana Lisa Taylor Tavares, Meriel McEntagart, Susan M. White, Tiong Y. Tan, Alison Yeung, Lilian Downie, Ivan Macciocca, Elena Savva, Crystle Lee, Ain Roesley, Paul De Fazio, Jane Deller, Zandra C. Deans, Sue L. Hill, Mark J. Caulfield, Kathryn N. North, Richard H. Scott, Augusto Rendon, Oliver Hofmann, Ellen M. McDonagh.
The American Journal of Human Genetics, Volume 108, Issue 9, 2021, Pages 1551-1557, ISSN 0002-9297. https://doi.org/10.1016/j.ajhg.2021.06.020.
Fenizia F, Wolstenholme N, Fairley JA, Rouleau E, Cheetham MH, Horan MP, Torlakovic E, Besse B, Al Dieri R, Tiniakos DG, Deans ZC, Patton SJ, Normanno N. Tumor mutation burden testing: a survey of the International Quality Network for Pathology (IQN Path). Virchows Arch. 2021 Apr 15. doi: 10.1007/s00428-021-03093-7. Epub ahead of print. PMID: 33856555.
HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions.
Bruford, E.A., Antonescu, C.R., Carroll, A.J. et al. HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions. Leukemia (2021). https://doi.org/10.1038/s41375-021-01436-6
Dufraing K, Fenizia F, Torlakovic E, Wolstenholme N, Deans ZC, Rouleau E, Vyberg M, Parry S, Schuuring E, Dequeker EMC; IQNPath ABSL. Virchows Arch. 2021 Mar;478(3):553-565. doi: 10.1007/s00428-020-02928-z. Epub 2020 Oct 13. PMID: 33047156; PMCID: PMC7550230.
Chromosomes in the Genomic Age. Preserving Cytogenomic Competence of Diagnostic Genome Laboratories.
Hochstenbach R, Liehr T, Hastings RJ. Eur J Hum Genet. 2021 Apr;29(4):541-552. doi: 10.1038/s41431-020-00780-y. Epub 2020 Dec 11. PMID: 33311710; PMCID: PMC8115145.
Opportunistic genomic screening. Recommendations of the European Society of Human Genetics.
de Wert G, Dondorp W, Clarke A, Dequeker EMC, Cordier C, Deans Z, van El CG, Fellmann F, Hastings R, Hentze S, Howard H, Macek M, Mendes A, Patch C, Rial-Sebbag E, Stefansdottir V, Cornel MC, Forzano F; European Society of Human Genetics. Eur J Hum Genet. 2021 Mar;29(3):365-377. doi: 10.1038/s41431-020-00758-w. Epub 2020 Nov 22. PMID: 33223530; PMCID: PMC7940405.
The International Collaboration for Cancer Classification and Research (IC3R).
Ian A. Cree, Iciar Indave, Jiri Zavadil, James McKay, Magali Olivier, Zisis Kozlakidis, Alexander J. Lazar, Chris Hyde, Stefan Holdenreider, Ros Hastings, Nasir Rajpoot, Arnaud de la Fouchardiere, Brian Rous, Jean Claude Zenklusen, Nicola Normanno, Richard L. Schilsky. Int J Cancer. 2020 Aug 20. doi: 10.1002/ijc.33260.
Van Casteren K, Keppens C, Schuuring E, Deans ZC, Normanno N, Patton SJ, Dequeker EMC; International Quality Network for Pathology ctDNA Working Group and the European Society of Pathology Foundation Assessors. J Mol Diagn. 2020 Jun;22(6):736-747. doi: 10.1016/j.jmoldx.2020.02.011. Epub 2020 Mar 21. PMID: 32205291.
ACGS General Genetic Laboratory Reporting Recommendations 2020
Lara Cresswell, Yvonne Wallis, Graham Fews, Zandra Deans, Carl Fratter, Louise Monkman & Sian Morgan. https://www.acgs.uk.com/quality/best-practice-guidelines/
ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020
Sian Ellard, Emma L Baple, Alison Callaway, Ian Berry, Natalie Forrester, Clare Turnbull, Martina Owens, Diana M Eccles, Stephen Abbs, Richard Scott, Zandra C Deans, Tracy Lester, Jo Campbell, William G Newman, Simon Ramsden & Dominic J McMullan. https://www.acgs.uk.com/quality/best-practice-guidelines/
Rack KA, van den Berg E, Haferlach C, Beverloo HB, Costa D, Espinet B, Foot N, Jeffries S, Martin K, O'Connor S, Schoumans J, Talley P, Telford N, Stioui S, Zemanova Z, Hastings RJ. Leukemia. 2020 Aug;34(8):2262-2264. doi: 10.1038/s41375-020-0736-x. Epub 2020 Feb 7. PMID: 32042082; PMCID: PMC7387292.
Findings from the global external quality assessment of lung cancer liquid biopsy testing. [POSTER]
J Fairley, M Cheetham, M Dennis, E Dequeker, C Keppens, F Fenizia, N Normanno, S Patton, E Rouleau, K van Casteren, ZC Deans. 2019 Association for Molecular Pathology (AMP) Annual Meeting, Baltimore, USA
C Deans, F Khawaja, R Treacy. 2019 Asia Conference on Human Genetics, Manila, Phillipines.
R Hastings, K Rack, F Khawaja, R Treacy, ZC Deans. 2019 Asia Conference on Human Genetics, Manila, Phillipines.
R Hastings, K Rack, J Fairley, F Morgan, M Sales, ZC Deans. 2019 European Cytogeneticist Association (ECA) Conference, Salzburg, Austria
F Moon, R Treacy, ZC Deans. 2019 European Society of Human Genetics (ESHG) conference, Uppsala, Sweden.
R Treacy, F Khawaja, ZC Deans. 2019 European Society of Human Genetics (ESHG) conference, Uppsala, Sweden.
Oncologists Review of ctDNA EGFR mutation testing reports. [POSTER]
Deans. 2019 Association for Molecular Pathology (AMP) Global Congress, Hong Kong.
Guidance for reporting the interpretation of cytogenomic test results in haematological neoplasms.
Katrina Rack, Eva van den Berg, Claudia Haferlach, Berna Beverloo, Blanca Espinet, Nicola Foot, Kate Martin, Sheila O'Connor, Jacqueline Schoumans, Polly Talley, Sabine Stioui, Zuzana Zemanova, Isabelle Luquet, Ros Hastings. Atlas Genet Cytogenet Oncol Haematol. 2019.
Deans ZC, Butler R, Cheetham M, Dequeker EMC, Fairley JA, Fenizia F, Hall JA, Keppens C, Normanno N, Schuuring E, Patton SJ. Virchows Arch (2019). https://doi.org/10.1007/s00428-019-02571-3
Maria Weronika Gutowska-Ding, Zandra C. Deans, Christophe Roos, Jukka Matilainen, Farrah Khawaja, Kim Brügger, Jo Wook Ahn, Christopher Boustred, Simon J. Patton. 2019. European Journal of Human Genetics https://doi.org/10.1038/s41431-019-0515-1
Deans ZC, Allen S, Jenkins L, Khawaja F, Gutowska-Ding W, Patton SJ, Chitty LS, Hastings RJ. Prenatal Diagnosis. 2019. Feb 14. doi: 10.1002/pd.5438.
European recommendations and quality assurance for cytogenomic analysis of haematological neoplasms.
KA Rack, E van den Berg, C Haferlach, HB Beverloo, D Costa, B Espinet, N Foot, S Jeffries, K Martin, S O’Connor, J Schoumans, P Talley, N Telford, S Stioui, Z Zemanova & RJ Hastings. Leukaemia 2019. doi.org/10.1038/s41375-019-0378-z
Best Practice for integrating cell-free DNA based NIPT into clinical practice.
Zandra C. Deans, Nicola Wolstenholme, Ros J Hastings. Non-invasive Prenatal Testing (NIPT), Chapter 11:191-205. Academic Press. 2018
European guidelines for constitutional cytogenomic analysis
(2018) Silva M, Leeuw N, Mann K, Schuring-Blom H, Morgan M, Giardino D, Rack K, Hastings. R. Eur J Hum Genet.
Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.
Williams HL, Walsh K, Diamond A, Oniscu A, Deans ZC. Virchows Arch. 2018 Oct;473(4):489-503. doi: 10.1007/s00428-018-2411-4.
Keppens C, Dequeker EMC, Patton SJ, Normanno N, Fenizia F, Butler R, Cheetham M, Fairley JA, Williams H, Hall JA, Schuuring E, Deans ZC. BMC Cancer. 2018 Aug 9;18(1):804.
Results of the UK NEQAS for Molecular Genetics Reference Sample analysis.
Richman SD, Fairley J, Hall JA, Nataraj N, Bhide M, Lau A, Norman KL, Deans ZC. J Clin Pathol. 2018 Jul 20. pii: jclinpath-2018-205277.
Jenkins LA, Deans ZC, Lewis C, Allen S. Prenat Diagn. 2018,38:44-51
Developing effective ctDNA testing services for lung cancer
Laura Blackburn, Leila Luheshi, Sandi Deans, Mark Kroese and Hilary Burton.
andra C Deans, Hannah Williams, Elisabeth MC Dequeker, Cleo Keppens, Nicola Normanno, Ed Shuuring, Simon Patton, Melanie Cheetham, Rachel Butler, Jacqueline Hall. Virchows Archiv. 2017 Aug 25.
Susan D. Richman, Jennifer Fairley, Rachel Butler, Zandra C. Deans. Virchows Arch 2017 Dec;471(6):721-729. doi: 10.1007/s00428-017-2162-7.
Deans ZC, Allen S, Jenkins L, Khawaja F, Hastings RJ, Mann K, Patton SJ, Sistermans EA, Chitty LS. Prenat Diagn. 2017 Jul;37(7):699-704. doi: 10.1002/pd.5068. Epub 2017 Jun 8.
The ins and outs of molecular pathology reporting.
Tack V, Dufraing K, Deans ZC, van Krieken HJ, Dequeker EM. Virchows Arch. 2017 Mar 26.
How close are we to standardised extended RAS gene mutation testing? The UK NEQAS evaluation.
Richman SD et al. J Clin Pathol. 2017 Jan;70(1):58-62.
Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring
Hochstenbach R, Slunga-Tallberg A, Devlin C, Floridia G, de Alba MR, Bhola S, Rack K, Hastings R. Eur J Hum Genet. 2017 Feb;25(3):273-274.
Cytogenetic nomenclature and reporting.
Stevens-Kroef M, Simons A, Rack K, Hastings RJ. Methods Mol Biol. 2017;1541:303-309. Review
Deans ZC et al. Virchows Arch. 2017 Jan;470(1):5-20.
Deans ZC, Fairley JA, den Dunnen JT, Clark C. Hum Mutat. Jun;37(6):576-8. doi: 10.1002/humu.22978. Epub 2016 Mar 18
Tack V, Deans ZC, Wolstenholme N, Patton S, Dequeker EM. Hum Mutat. 2016 Jun;37(6):570-5. doi: 10.1002/humu.22975. Epub 2016 Mar 14
Guidelines for genomic array analysis in acquired haematological neoplastic disorders.
Schoumans J, Suela J, Hastings R, Muehlematter D, Rack K, van den Berg E, Berna Beverloo H, Stevens-Kroef M. Genes Chromosomes Cancer. 2016 May;55(5):480-91. doi: 10.1002/gcc.22350. Epub 2016 Feb 23.
Guidance for laboratories performing molecular pathology for cancer patients.
Cree IA, Deans Z, Ligtenberg MJ, Normanno N, Edsjö A, Rouleau E, Solé F, Thunnissen E, Timens W, Schuuring E, Dequeker E, Murray S, Dietel M, Groenen P, Van Krieken JH; European Society of Pathology Task Force on Quality Assurance in Molecular Pathology and the Royal College of Pathologists. J Clin Pathol. 2014 Nov;67(11):923-31
Next generation diagnostic molecular pathology: critical appraisal of quality assurance in Europe.
Dubbink HJ, Deans ZC, Tops BB, van Kemenade FJ, Koljenović S, van Krieken HJ, Blokx WA, Dinjens WN, Groenen PJ. Mol Oncol. 2014 Jun;8(4):830-9. doi: 10.1016/j.molonc.2014.03.004. Epub 2014 Mar 18. Epub 2014 Jul 10.
External quality assessment of BRAF molecular analysis in melanoma.
Deans ZC, Wallace A, O'Sullivan B, Purvis A, Camus S, Fairley JA, Gonzalez D. J Clin Pathol. 2014 Feb;67(2):120-4. doi: 10.1136/jclinpath-2013-201848. Epub 2013 Oct 4.
European consensus conference for external quality assessment in molecular pathology.
van Krieken JH, Siebers AG,Normanno N, Blackhall F, Boone E, Hartziekenhuis H, Botti G, Carneiro F, Celik I, Ciardiello F, Cree IA, Deans ZC,Dequeker E, Edsjö A, Groenen PJ, Kamarainen O, Kreipe HH, van Krieken JH, Ligtenberg MJ, Marchetti A, Murray S,Normanno N, Opdam FJ, Patterson SD, Patton S, Pinto C, Rouleau E, Schuuring E, Siebers AG, Sterck S, Taron M,Tejpar S, Timens W, Thunnissen E, van de Ven PM. Ann Oncol. 2013 Aug;24(8):1958-63. doi: 10.1093/annonc/mdt153. Epub 2013 Apr 23.
Deans ZC, Bilbe N, O'Sullivan B, Lazarou LP, de Castro DG, Parry S, Dodson A, Taniere P, Clark C, Butler R. J Clin Pathol. 2013 Apr;66(4):319-25. doi: 10.1136/jclinpath-2012-201227. Epub 2013 Feb 1.
Guideline on the requirements of external quality assessment programs in molecular pathology.
van Krieken JH, Normanno N, Blackhall F, Boone E, Botti G, Carneiro F, Celik I, Ciardiello F, Cree IA, Deans ZC, Edsjö A, Groenen PJ, Kamarainen O, Kreipe HH, Ligtenberg MJ, Marchetti A, Murray S, Opdam FJ, Patterson SD, Patton S, Pinto C, Rouleau E, Schuuring E, Sterck S, Taron M, Tejpar S, Timens W, Thunnissen E, van de Ven PM, Siebers AG, Dequeker E. Virchows Arch. 2013 Jan;462(1):27-37. Epub 2012 Dec 19.
Deans Z, Fiorentino F, Biricik A, Traeger-Synodinos J, Moutou C, De Rycke M, Renwick P, Sengupta S, Goossens V, Harton G. Eur J Hum Genet. 2013 Aug;21(8):800-6. doi: 10.1038/ejhg.2012.244. Epub 2012 Nov 14.
Wong NA, Deans ZC, Ramsden SC. J Clin Pathol. 2012 Sep;65(9):786-90. doi: 10.1136/jclinpath-2012-200851. Epub 2012 Jun 9.
Deans ZC, Tull J, Beighton G, Abbs S, Robinson DO, Butler R. Genet Test Mol Biomarkers. 2011 Nov;15(11):777-83. doi: 10.1089/gtmb.2010.0239. Epub 2011 Aug 18.
Ramsden SC,Deans Z, Robinson DO, Mountford R, Sistermans EA, Grody WW, McQuaid S, Patton SJ, Stenhouse SA. Genet Test. 2006 Fall;10(3):147-56.
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