George J Burghel
Overview
Explore the profile of George J Burghel including associated specialties, affiliations and a list of published articles.
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Articles
60
Citations
539
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Recent Articles
1.
Torr B, Bell N, McCarthy R, Hamill M, Nolan J, Muralidharan S, et al.
J Med Genet
. 2024 Dec;
62(2):69-73.
PMID: 39715636
Background: The NHS Jewish BRCA Testing Programme is offering germline and genetic testing to people with ≥1 Jewish grandparent. Who have an increased likelihood of having an Ashkenazi Jewish (AJ)...
2.
Evans D, Woodward E, Burghel G, Allen S, Torr B, Hamill M, et al.
Genet Med Open
. 2024 Dec;
2():100849.
PMID: 39669617
Purpose: To assess the contribution of germline pathogenic variants (PVs) in population-based series of breast cancers and the best strategy to improve detection rates. Methods: Three cohort studies were utilized,...
3.
Morgan R, Wang X, Barnes B, Spurgeon L, Carrot A, Netto D, et al.
Br J Cancer
. 2024 Nov;
131(12):1919-1927.
PMID: 39550490
Background: High-grade serous ovarian cancer (HGSOC) can be treated with platinum-based neoadjuvant chemotherapy (NACT) and delayed primary surgery (DPS). Histopathological response to NACT can be assessed using Böhm's chemotherapy response...
4.
Garrett A, Allen S, Durkie M, Burghel G, Robinson R, Callaway A, et al.
Genet Med
. 2024 Nov;
27(2):101305.
PMID: 39489894
Purpose: Current practice is to report and manage likely pathogenic/pathogenic variants in a given cancer susceptibility gene as though having equivalent penetrance, despite increasing evidence of intervariant variability in risk...
5.
Rowlands C, Garrett A, Allen S, Durkie M, Burghel G, Robinson R, et al.
J Med Genet
. 2024 Sep;
61(10):983-991.
PMID: 39227160
Background: The 2015 American College of Medical Genetics/Association of Molecular Pathology (ACMG/AMP) variant classification framework specifies that case-control observations can be scored as 'strong' evidence (PS4) towards pathogenicity. Methods: We...
6.
Smith M, Perez-Becerril C, van der Meer M, Burghel G, Waller S, Carney M, et al.
J Med Genet
. 2024 Aug;
61(11):1011-1015.
PMID: 39209702
Background: Most schwannomas are isolated tumours occurring in otherwise healthy people. However, bilateral vestibular schwannomas (BVS) or multiple non-vestibular schwannomas indicate an underlying genetic predisposition. This is most commonly -related...
7.
Morgan R, Burghel G, Flaum N, Schlecht H, Clamp A, Hasan J, et al.
Genet Med
. 2024 Aug;
26(10):101230.
PMID: 39096152
Purpose: The prevalence of germline pathogenic variants (PVs) in homologous recombination repair (HRR) and Lynch syndrome (LS) genes in ovarian cancer (OC) is uncertain. Methods: An observational study reporting the...
8.
McDevitt T, Durkie M, Arnold N, Burghel G, Butler S, Claes K, et al.
Eur J Hum Genet
. 2024 Aug;
PMID: 39095510
No abstract available.
9.
Evans D, Howell S, Burghel G, Forde C, Lalloo F, Smith M, et al.
J Med Genet
. 2024 Jul;
61(10):935-936.
PMID: 39054051
No abstract available.
10.
Forde C, Smith M, Burghel G, Bowers N, Roberts N, Lavin T, et al.
J Med Genet
. 2024 Jun;
61(9):856-860.
PMID: 38925914
Objectives: New diagnostic criteria for NF2-related schwannomatosis (NF2) were published in 2022. An updated UK prevalence was generated in accordance with these, with an emphasis on the rate of de...