Kathy Mann
Cambridge, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 16 publications
The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing.
Journal: Journal of medical genetics
Published: January 22, 2026
Modelling the cost-effectiveness of non-invasive prenatal testing in the English sickle cell and thalassaemia screening pathway.
Journal: Diagnostic and prognostic research
Published: July 12, 2024
Minimally acceptable criteria and required sample size for an accuracy study of non-invasive prenatal testing of sickle cell disease in screen positive women in England: results of a decision tree model.
Journal: Diagnostic and prognostic research
Published: July 12, 2024
Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease.
Journal: Kidney international
Published: December 21, 2023
Cytogenomic results following high-chance non-invasive prenatal testing: a UK national audit.
Journal: Genetics research
Published: September 02, 2020
Haematological chimerism masquerading as disorder of sex development.
Journal: Clinical endocrinology
Published: November 20, 2019
A novel non-invasive prenatal sickle cell disease test for all at-risk pregnancies.
Journal: British journal of haematology
Published: November 15, 2019
Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: December 04, 2018
European guidelines for constitutional cytogenomic analysis.
Journal: European journal of human genetics : EJHG
Published: October 31, 2017
Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion.
Journal: Prenatal diagnosis
Published: February 13, 2017
Efficient and cost-effective genetic analysis of products of conception and fetal tissues using a QF-PCR/array CGH strategy; five years of data.
Journal: Molecular cytogenetics
Published: January 25, 2017
Gestation related karyotype, QF-PCR and CGH-array failure rates in diagnostic amniocentesis.
Journal: Prenatal diagnosis
Published: December 24, 2015
Last Updated: 09/26/2026