Publications

Development of External Quality Assessment for Molecular Newborn Screening of Severe Combined Immunodeficiency (SCID) and Spinal Muscular atrophy (SMA). [Poster]

Sandra Romero, Dave Cregeen, Zandra Deans

Global variation, shared standards: Improving DSD genomic testing through External Quality Assessment

M. Tabiner, R. Treacy, K. Huijsdens-van Amsterdam, C. Bowles, L. Young, P. Fulton, Z. Deans

Individual competency assessment for risk calculations using GENie

A. Kolozi, D. Cregeen, Z. Deans
European Society of Human Genetics (ESHG), Gothenburg, Sweden, 2026

International reproductive carrier screening testing assessed by external quality assessment.

Dave Cregeen, R. Navratil, A. Paulussen, D. Phelan and Z. Deans
European Society of Human Genetics (ESHG), Gothenburg, Sweden, 2026

Enhancing the quality and consistency of genomic testing for Differences in Sex Development (DSD) through External Quality Assessment

M. Tabiner, R. Treacy, K. Huijsdens-van Amsterdam, C. Bowles, L. Young, P. Fulton, Z. Deans.
European Society of Human Genetics (ESHG), Gothenburg, Sweden, 2026