Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

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.

Tumor mutation burden testing: a survey of the International Quality Network for Pathology (IQN Path)

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

Biomarker testing in oncology - Requirements for organizing external quality assessment programs to improve the performance of laboratory testing: revision of an expert opinion paper on behalf of IQNPath ABSL.

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.