George J Burghel
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Explore the profile of George J Burghel including associated specialties, affiliations and a list of published articles.
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Recent Articles
11.
Pagnamenta A, Yu J, Walker S, Noble A, Lord J, Dutta P, et al.
Am J Hum Genet
. 2024 May;
111(6):1140-1164.
PMID: 38776926
Detection of structural variants (SVs) is currently biased toward those that alter copy number. The relative contribution of inversions toward genetic disease is unclear. In this study, we analyzed genome...
12.
Evans D, Burghel G, Howell S, Pugh S, Forde C, Howell A, et al.
J Med Genet
. 2024 Apr;
61(9):853-855.
PMID: 38609177
Background: Male breast cancer (MBC) affects around 1 in 1000 men and is known to have a higher underlying component of high and moderate risk gene pathogenic variants (PVs) than...
13.
Burghel G, Ellingford J, Wright R, Bradford L, Miller J, Watt C, et al.
J Med Genet
. 2024 Apr;
61(7):621-625.
PMID: 38604752
Background: Reanalysis of exome/genome data improves diagnostic yield. However, the value of reanalysis of clinical array comparative genomic hybridisation (aCGH) data has never been investigated. Case-by-case reanalysis can be challenging...
14.
Evans D, Green K, Burghel G, Forde C, Lalloo F, Schlecht H, et al.
Fam Cancer
. 2024 Mar;
23(2):187-195.
PMID: 38478259
In the 33 years since the first diagnostic cancer predisposition gene (CPG) tests in the Manchester Centre for Genomic Medicine, there has been substantial changes in the identification of index...
15.
McDevitt T, Durkie M, Arnold N, Burghel G, Butler S, Claes K, et al.
Eur J Hum Genet
. 2024 Mar;
32(5):479-488.
PMID: 38443545
Hereditary Breast and Ovarian Cancer (HBOC) is a genetic condition associated with increased risk of cancers. The past decade has brought about significant changes to hereditary breast and ovarian cancer...
16.
Perez-Becerril C, Burghel G, Hartley C, Rowlands C, Evans D, Smith M
J Med Genet
. 2024 Feb;
61(5):452-458.
PMID: 38302265
Purpose: To determine the impact of additional genetic screening techniques on the rate of detection of pathogenic variants leading to familial -related schwannomatosis. Methods: We conducted genetic screening of a...
17.
Morgan R, Burghel G, Schlecht H, Clamp A, Hasan J, Mitchell C, et al.
Cancers (Basel)
. 2024 Jan;
16(1).
PMID: 38201604
Patients diagnosed with epithelial ovarian cancer may undergo reflex tumour / testing followed by germline testing in patients with a positive tumour test result. This testing model relies on tumour...
18.
Allen S, Loong L, Garrett A, Torr B, Durkie M, Drummond J, et al.
J Med Genet
. 2023 Dec;
61(4):305-312.
PMID: 38154813
Background: National and international amalgamation of genomic data offers opportunity for research and audit, including analyses enabling improved classification of variants of uncertain significance. Review of individual-level data from National...
19.
Woodward E, Lalloo F, Forde C, Pugh S, Burghel G, Schlecht H, et al.
J Med Genet
. 2023 Dec;
61(4):385-391.
PMID: 38123987
Background: The identification of germline pathogenic gene variants (PGVs) in triple negative breast cancer (TNBC) is important to inform further primary cancer risk reduction and TNBC treatment strategies. We therefore...
20.
Evans D, Burghel G, Schlecht H, Harkness E, Gandhi A, Howell S, et al.
J Med Genet
. 2023 Apr;
60(10):974-979.
PMID: 37055167
Purpose: To investigate the frequency of germline pathogenic variants (PVs) in women with bilateral breast cancer. Methods: We undertook and c.1100delC molecular analysis in 764 samples and a multigene panel...