Items where authors include "Burghel, G.J."

Article

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Yu, J., Walker, S. et al. (65 more authors) (2024) The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. The American Journal of Human Genetics, 111 (6). pp. 1140-1164. ISSN 0002-9297

Allen, S. orcid.org/0000-0003-4928-2240, Loong, L., Garrett, A. orcid.org/0000-0001-8942-283X et al. (34 more authors) (2023) Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey. Journal of Medical Genetics. jmg-2023. ISSN 0022-2593

Daniels, S.L., Burghel, G.J., Chambers, P. et al. (9 more authors) (2016) Levels of DNA methylation vary at CpG sites across the BRCA1 promoter, and differ according to triple negative and "BRCA-like" status, in both blood and tumour DNA. PLoS One. ISSN 1932-6203

Camp, N.J., Lin, W.Y., Bigelow, A. et al. (23 more authors) (2016) Discordant Haplotype Sequencing Identifies Functional Variants at the 2q33 Breast Cancer Risk Locus. Cancer Research, 76 (7). pp. 1916-1925. ISSN 0008-5472

Burghel, G.J., Lin, W-Y., Whitehouse, H. et al. (6 more authors) (2013) Identification of Candidate Driver Genes in Common Focal Chromosomal Aberrations of Microsatellite Stable Colorectal Cancer. PLOS ONE, 8 (12). UNSP e83859. ISSN 1932-6203