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

Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL.

Deans ZC et al. Virchows Arch. 2017 Jan;470(1):5-20.

HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme.

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

What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases.

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