Edmund Cheesman
Overview
Explore the profile of Edmund Cheesman including associated specialties, affiliations and a list of published articles.
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22
Citations
430
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Recent Articles
1.
Kershaw C, Demain L, Baker E, Burghel G, Durkie M, Forde C, et al.
Clin Genet
. 2025 Feb;
PMID: 39904744
An 11-year-old presented with bilateral renal cell carcinoma (RCC) with FH-deficient RCC confirmed by immunohistochemistry. WGS confirmed no coding variants but identified a rare intronic variant in FH (c.1391-269A>G). We...
2.
Davis J, Cheesman E
Virchows Arch
. 2024 Nov;
486(1):117-126.
PMID: 39576278
Several distinctive round cell sarcomas have emerged by leveraging new testing modalities to include immunohistochemistry, next-generation sequencing, methylation array, and others. While Ewing sarcoma has led the way as the...
3.
Chisholm J, Selfe J, Alaggio R, Cheesman E, Zin A, Tombolan L, et al.
Pediatr Blood Cancer
. 2024 Nov;
72(1):e31428.
PMID: 39511703
Background: Patients with PAX3/7-FOXO1 fusion-negative rhabdomyosarcomas (fnRMS) harbouring the rare L122R MYOD1 mutation have significantly poorer prognosis than other fnRMS. We undertook a detailed clinicopathological evaluation of a cohort of...
4.
Wakeling M, Owens N, Hopkinson J, Johnson M, Houghton J, Dastamani A, et al.
Nat Genet
. 2022 Nov;
54(11):1615-1620.
PMID: 36333503
Gene expression is tightly regulated, with many genes exhibiting cell-specific silencing when their protein product would disrupt normal cellular function. This silencing is largely controlled by non-coding elements, and their...
5.
Thorbinson C, Penn A, Nicola P, Hardcastle C, Waller S, Ramsden S, et al.
Clin Genet
. 2021 Dec;
101(3):375-376.
PMID: 34878179
The first reported malignancy associated with Cockayne syndrome.
6.
OShea K, Tong A, Farrelly P, Craigie R, Cheesman E, Shukla R, et al.
J Pediatr Surg
. 2021 Apr;
56(11):2032-2036.
PMID: 33789803
Objective: To report a 20-year experience highlighting management and outcome(s) of paediatric testicular tumours. Patients And Methods: All males (< 19 years) with an index diagnosis of testicular tumours during...
7.
Goenka A, Doherty J, Al-Farsi T, Jagger C, Banka S, Cheesman E, et al.
J Leukoc Biol
. 2020 Sep;
109(6):1147-1154.
PMID: 32930428
The glucose-6-phosphatase catalytic subunit 3 (G6PC3) encodes a ubiquitously expressed enzyme that regulates cytoplasmic glucose availability. Loss-of-function biallelic G6PC3 mutations cause severe congenital neutropenia and a diverse spectrum of extra-hematological...
8.
Fagbemi A, Newman W, Tangye S, Hughes S, Cheesman E, Arkwright P
World J Gastroenterol
. 2020 May;
26(15):1841-1846.
PMID: 32351297
Background: Aminoacyl tRNA synthetases/ligases (ARSs) are highly conserved enzymes involved in attaching amino acids to tRNA promoting protein synthesis. Although deficiencies of ARSs localized to the mitochondria classically present with...
9.
Duncan C, Thompson B, Chen R, Rice G, Gothe F, Young D, et al.
Sci Immunol
. 2019 Dec;
4(42).
PMID: 31836668
Excessive type I interferon (IFNα/β) activity is implicated in a spectrum of human disease, yet its direct role remains to be conclusively proven. We investigated two siblings with severe early-onset...
10.
Houghton J, Banerjee I, Shaikh G, Jabbar S, Laver T, Cheesman E, et al.
J Pathol Clin Res
. 2019 Oct;
6(1):12-16.
PMID: 31577849
Congenital hyperinsulinism (CHI) causes dysregulated insulin secretion which can lead to life-threatening hypoglycaemia if not effectively managed. CHI can be sub-classified into three distinct groups: diffuse, focal and mosaic pancreatic...