Dr Katherine Burke

Clinical Research Fellow

Yr Ysgol Meddygaeth

: burkekb@cardiff.ac.uk
: UHW Main Building

Cyhoeddiadau
Ymgysyllty

2022

Lippe, C. et al. 2022. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. American Journal of Medical Genetics Part A 188(1), pp. 272-282. (10.1002/ajmg.a.62492)

2021

Balasubramanian, M. et al. 2021. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics 29, pp. 625-636. (10.1038/s41431-020-00769-7)

2018

Burke, K. B. 2018. Array comparative genomic hybridisation and the newborn intensive care unit: Sociological perspectives on mainstreaming medical genetics. PhD Thesis, Cardiff University.

2017

Burke, K., Howard, Z. and Kamath, A. 2017. Genetic and genomic investigations in the neonatal intensive care unit. Paediatrics and Child Health 27(1), pp. 23-27. (10.1016/j.paed.2016.08.001)

2016

Burke, K. and Clarke, A. 2016. The challenge of consent in clinical genome-wide testing. Archives of Disease in Childhood 101, pp. 1048-1052. (10.1136/archdischild-2013-304109)

2015

Burke, K. and Clarke, A. 2015. Genetic screening. In: Henk, t. H. ed. Encyclopedia of Global Bioethics. Springer Reference

Past projects