| Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations MJ Smith, C Beetz, SG Williams, SS Bhaskar, J O'Sullivan, B Anderson, ... Journal of Clinical Oncology 32 (36), 4155-4161, 2014 | 311 | 2014 |
| Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course AK Wefers, D Stichel, D Schrimpf, R Coras, M Pages, A Tauziède-Espariat, ... Acta neuropathologica 139, 193-209, 2020 | 103 | 2020 |
| Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2 CJA Duncan, BJ Thompson, R Chen, GI Rice, F Gothe, DF Young, ... Science immunology 4 (42), eaav7501, 2019 | 97 | 2019 |
| Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers D Egg, C Schwab, A Gabrysch, PD Arkwright, E Cheesman, ... Frontiers in immunology 9, 2012, 2018 | 86 | 2018 |
| Frequent derepression of the mesenchymal transcription factor gene FOXC1 in acute myeloid leukemia TDD Somerville, DH Wiseman, GJ Spencer, X Huang, JT Lynch, ... Cancer cell 28 (3), 329-342, 2015 | 68 | 2015 |
| Enhanced islet cell nucleomegaly defines diffuse congenital hyperinsulinism in infancy but not other forms of the disease B Han, M Newbould, G Batra, E Cheesman, RJ Craigie, Z Mohamed, ... American journal of clinical pathology 145 (6), 757-768, 2016 | 49 | 2016 |
| Intracranial angiomatoid fibrous histiocytoma with EWSR1-CREB family fusions: a report of 2 pediatric cases A Konstantinidis, E Cheesman, J O'Sullivan, J Pavaine, S Avula, B Pizer, ... World Neurosurgery 126, 113-119, 2019 | 40 | 2019 |
| Papillary craniopharyngioma in a 4-year-old girl with BRAF V600E mutation: a case report and review of the literature R Borrill, E Cheesman, S Stivaros, ID Kamaly-Asl, K Gnanalingham, ... Child's Nervous System 35, 169-173, 2019 | 35 | 2019 |
| Atypical forms of congenital hyperinsulinism in infancy are associated with mosaic patterns of immature islet cells B Han, Z Mohamed, MS Estebanez, RJ Craigie, M Newbould, ... The Journal of Clinical Endocrinology & Metabolism 102 (9), 3261-3267, 2017 | 34 | 2017 |
| Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism JAL Houghton, I Banerjee, G Shaikh, S Jabbar, TW Laver, E Cheesman, ... The Journal of Pathology: Clinical Research 6 (1), 12-16, 2020 | 33 | 2020 |
| Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism MN Wakeling, NDL Owens, JR Hopkinson, MB Johnson, JAL Houghton, ... Nature genetics 54 (11), 1615-1620, 2022 | 23 | 2022 |
| Neutrophil dysfunction triggers inflammatory bowel disease in G6PC3 deficiency A Goenka, JA Doherty, T Al-Farsi, C Jagger, S Banka, E Cheesman, ... Journal of Leucocyte Biology 109 (6), 1147-1154, 2021 | 20 | 2021 |
| Patterns and frequency of renal abnormalities in Fanconi anaemia: implications for long-term management V Sathyanarayana, B Lee, NB Wright, R Santos, D Bonney, R Wynn, ... Pediatric Nephrology 33, 1547-1551, 2018 | 20 | 2018 |
| Clinical diversity in focal congenital hyperinsulinism in infancy correlates with histological heterogeneity of islet cell lesions RJ Craigie, M Salomon-Estebanez, D Yau, B Han, W Mal, M Newbould, ... Frontiers in endocrinology 9, 619, 2018 | 17 | 2018 |
| Successful Curative Therapy With Rituximab and Allogeneic Haematopoietic Stem Cell Transplantation for MALT Lymphoma Associated With STK4‐Mutated CD4+ … SH Lum, D Bonney, E Cheesman, NB Wrignt, S Hughes, R Wynn Pediatric blood & cancer 63 (9), 1657-1659, 2016 | 17 | 2016 |
| Management and outcome of paediatric testicular tumours–A 20 year experience K O'Shea, A Tong, P Farrelly, R Craigie, E Cheesman, R Shukla, P Losty Journal of Pediatric Surgery 56 (11), 2032-2036, 2021 | 16 | 2021 |
| SIADH and partial hypopituitarism in a patient with intravascular large B-cell lymphoma: a rare cause of a common presentation S Akhtar, E Cheesman, EB Jude Case Reports 2013, bcr2012007147, 2013 | 15 | 2013 |
| Congenital infantile fibrosarcoma of the colon: a case series and literature review V Parmar, RT Peters, E Cheesman, N Edi-Osagie, RJ Craigie Pediatric surgery international 30, 1079-1085, 2014 | 14 | 2014 |
| Perianal rhabdomyomatous mesenchymal hamartoma K Sampat, E Cheesman, S Siminas The Annals of The Royal College of Surgeons of England 99 (6), e193-e195, 2017 | 13 | 2017 |
| Refractory very early-onset inflammatory bowel disease associated with cytosolic isoleucyl-tRNA synthetase deficiency: a case report A Fagbemi, WG Newman, SG Tangye, SM Hughes, E Cheesman, ... World Journal of Gastroenterology 26 (15), 1841, 2020 | 8 | 2020 |
