Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Zandra C, Deans"'
Autor:
Jennifer A. Fairley, Zandra C. Deans, Rebecca J. L. Treacy, Eilidh Grieg, Kathryn Bungartz, Ruth Burton, James Hayes, Sheryl K. Elkin
Publikováno v:
Journal of Molecular Pathology, Vol 3, Iss 3, Pp 125-139 (2022)
Comprehensive next-generation sequencing (NGS) panels for cancer diagnostics create a bottleneck for interpretation. QIAGEN Clinical Insights Interpret One (QCI) is a clinical decision support software that supports molecular pathologists in the clas
Externí odkaz:
https://doaj.org/article/acaef14401e8448298ae5451536bf8bb
Autor:
Jennifer A. Fairley, Melanie H. Cheetham, Simon J. Patton, Etienne Rouleau, Marc Denis, Elisabeth M. C. Dequeker, Ed Schuuring, Kaat van Casteren, Francesca Fenizia, Nicola Normanno, Zandra C. Deans
Publikováno v:
BMC Cancer, Vol 22, Iss 1, Pp 1-12 (2022)
Abstract Background Circulating cell free DNA (cfDNA) testing of plasma for EGFR somatic variants in lung cancer patients is being widely implemented and with any new service, external quality assessment (EQA) is required to ensure patient safety. An
Externí odkaz:
https://doaj.org/article/2db9d6d558434af387830fabde90da75
Autor:
Cleo Keppens, Elisabeth M. C. Dequeker, Simon J. Patton, Nicola Normanno, Francesca Fenizia, Rachel Butler, Melanie Cheetham, Jennifer A. Fairley, Hannah Williams, Jacqueline A. Hall, Ed Schuuring, Zandra C. Deans, On behalf of IQN Path ASBL
Publikováno v:
BMC Cancer, Vol 18, Iss 1, Pp 1-11 (2018)
Abstract Background Molecular analysis of circulating tumour DNA (ctDNA) is becoming increasingly important in clinical treatment decisions. A pilot External Quality Assessment (EQA) scheme for ctDNA analysis was organized by four European EQA provid
Externí odkaz:
https://doaj.org/article/3b377a7e3c754c35805acda84dcc799a
Autor:
Riziero Esposito Abate, Melanie H. Cheetham, Jennifer A. Fairley, Raffaella Pasquale, Alessandra Sacco, Wolstenholme Nicola, Zandra C. Deans, Simon J. Patton, Nicola Normanno
Publikováno v:
Virchows Archiv. 482:347-355
Tumor mutational burden (TMB) has recently been approved as an agnostic biomarker for immune checkpoint inhibitors. However, methods for TMB testing have not yet been standardized. The International Quality Network for Pathology (IQNPath) organized a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e6a5c62c15df29f39ea52fe2683647d8
https://doi.org/10.1007/s00428-022-03444-y
https://doi.org/10.1007/s00428-022-03444-y
Autor:
Jennifer A. Fairley, Tony Badrick, Marc G. Denis, Lora Dimitrova, Rebecca Goodall, Joerg Maas, Nicola Normanno, Simon J. Patton, Etienne Rouleau, Antonio Russo, Tracy L. Stockley, Zandra C. Deans
Publikováno v:
Virchows Archiv.
Demand for large-scale tumour profiling across cancer types has increased in recent years, driven by the emergence of targeted drug therapies. Analysing alternations in plasma circulating tumour DNA (ctDNA) for cancer detection can improve survival;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::79d44eb4add4e99b44beefecb13c9b06
https://doi.org/10.1007/s00428-023-03558-x
https://doi.org/10.1007/s00428-023-03558-x
Autor:
Zandra C. Deans, Joo Wook Ahn, Isabel M. Carreira, Elisabeth Dequeker, Mick Henderson, Luca Lovrecic, Katrin Õunap, Melody Tabiner, Rebecca Treacy, Christi J. van Asperen
Publikováno v:
European Journal of Human Genetics, 30(9), 1011-1016. SPRINGERNATURE
Results of clinical genomic testing must be reported in a clear, concise format to ensure they are understandable and interpretable. It is important laboratories are aware of the information which is essential to make sure the results are not open to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba93abf6d2b15475b43702f248a55149
https://doi.org/10.1038/s41431-022-01091-0
https://doi.org/10.1038/s41431-022-01091-0
Autor:
Zandra C. Deans, Anil Biricik, Martine De Rycke, Gary L. Harton, Miroslav Hornak, Farrah Khawaja, Céline Moutou, Jan Traeger‐Synodinos, Pamela Renwick
Objective: Genomics Quality Assessment has provided external quality assessments (EQAs) for preimplantation genetic testing (PGT) for 12 years for eight monogenic diseases to identify sub-optimal PGT strategies, testing and reporting of results, whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417eb81f65a16dda1afb286616a4b3a4
https://biblio.vub.ac.be/vubir/twelve-years-of-assessing-the-quality-of-preimplantation-genetic-testing-for-monogenic-disorders(70c133c4-a853-4ad5-8dd4-0dfb9a0ed4cd).html
https://biblio.vub.ac.be/vubir/twelve-years-of-assessing-the-quality-of-preimplantation-genetic-testing-for-monogenic-disorders(70c133c4-a853-4ad5-8dd4-0dfb9a0ed4cd).html
Autor:
Elena Savva, Ivan Macciocca, Tiong Yang Tan, Victor S Lin, Ivone U.S. Leong, Mark J. Caulfield, Richard H. Scott, Ana Lisa Taylor Tavares, Crystle Lee, Kevin Savage, Kathryn N. North, Olivia Niblock, Christopher Boustred, Sarah Leigh, Arina Puzriakova, Ellen M. McDonagh, Alison Yeung, William Bellamy, Catherine E. Snow, Ellen R.A. Thomas, Antonio Rueda-Martin, Paul De Fazio, Bryony A. Thompson, Louise C. Daugherty, Helen K. Brittain, Eleanor Williams, Chirag Patel, Oliver Hofmann, Ain Roesley, Zornitza Stark, Jane Deller, Zandra C. Deans, Susan M. White, Rebecca E. Foulger, Lilian Downie, Sue Hill, Augusto Rendon, Sebastian Lunke, Meriel McEntagart, Oleg Gerasimenko, Lavinia Gordon, Roman Valls
Publikováno v:
Am J Hum Genet
Clinical validity assessments of gene-disease associations underpin analysis and reporting in diagnostic genomics, and yet wide variability exists in practice, particularly in use of these assessments for virtual gene panel design and maintenance. Ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a7bb1d7c13503703eaacf84893bd36
https://doi.org/10.1016/j.ajhg.2021.06.020
https://doi.org/10.1016/j.ajhg.2021.06.020
Publikováno v:
Prenatal diagnosisREFERENCES.
Prenatal trio exome sequencing (ES) has become integrated into the care for pregnant women when the fetus has structural anomalies. Details regarding optimizing indications for prenatal exome sequencing, its detection rates with different categories
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d58ceb5e049f285b545f7fd68ede55bb
https://pubmed.ncbi.nlm.nih.gov/36221164
https://pubmed.ncbi.nlm.nih.gov/36221164
Autor:
Benjamin Besse, Raed Al Dieri, Nicola Normanno, Emina Torlakovic, Zandra C. Deans, Jennifer A. Fairley, Martin P. Horan, Simon Patton, Melanie Cheetham, Etienne Rouleau, Francesca Fenizia, Nicola Wolstenholme, Dina Tiniakos
Publikováno v:
Virchows Archiv
While tumour mutation burden (TMB) is emerging as a possible biomarker for immune-checkpoint inhibitors (ICI), methods for testing have not been standardised as yet. In April 2019, the International Quality Network for Pathology (IQN Path) launched a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27249dcb281628db1d7ce9fe4ac09c41
http://europepmc.org/articles/PMC8724102
http://europepmc.org/articles/PMC8724102