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#	Title	Journal	Year	Citations
1	Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia	Nature	2014	261
2	Combining gene mutation with gene expression data improves outcome prediction in myelodysplastic syndromes	Nature Communications	2015	196
3	Relapsing diabetes can result from moderately activating mutations in KCNJ11	Human Molecular Genetics	2005	184
4	Consensus statement on the multidisciplinary management of patients with recurrent and primary rectal cancer beyond total mesorectal excision planes	British Journal of Surgery	2013	175
5	Management of the malignant colorectal polyp: ACPGBI position statement	Colorectal Disease	2013	153
6	Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848	American Journal of Human Genetics	2018	144
7	Consensus statement on the multidisciplinary management of patients with recurrent and primary rectal cancer beyond total mesorectal excision planes	British Journal of Surgery	2013	140
8	Development and external validation of a nomogram and online tool to predict bowel dysfunction following restorative rectal cancer resection: the POLARS score	Gut	2018	127
9	Investigation and management of a raised serum ferritin	British Journal of Haematology	2018	126
10	Diagnosis and management of anaemia of chronic disease: current status	British Journal of Haematology	2011	107
11	Validation of the English translation of the low anterior resection syndrome score	Colorectal Disease	2015	99
12	Organophosphorus nerve agent poisoning: managing the poisoned patient	British Journal of Anaesthesia	2019	90
13	Mosaic Turner syndrome shows reduced penetrance in an adult population study	Genetics in Medicine	2019	88
14	Standardisation of molecular monitoring for chronic myeloid leukaemia	Best Practice and Research in Clinical Haematology	2009	85
15	Clonal diversity in the myeloproliferative neoplasms: independent origins of genetically distinct clones	British Journal of Haematology	2009	75
16	8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH	European Journal of Human Genetics	2008	74
17	A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias	British Journal of Haematology	2016	72
18	Efficacy of exercise therapy for the treatment of adolescent idiopathic scoliosis: a review of the literature	European Spine Journal	2012	67
19	Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties	European Journal of Human Genetics	2009	64
20	Detection of Pseudomonas aeruginosa isolates producing VEB-type extended-spectrum -lactamases in the United Kingdom	Journal of Antimicrobial Chemotherapy	2008	62
21	The English National Low Rectal Cancer Development Programme: key messages and future perspectives	Colorectal Disease	2014	61
22	Bibliotherapy for mental health service users Part 1: a systematic review	Health Information and Libraries Journal	2008	59
23	Should the Macroscopically Normal Appendix be Removed During Laparoscopy for Acute Right Iliac Fossa Pain When No Other Explanatory Pathology is Found?	Surgical Laparoscopy, Endoscopy and Percutaneous Techniques	2009	58
24	Health care improvement and continuing interprofessional education: Continuing interprofessional development to improve patient outcomes	Journal of Continuing Education in the Health Professions	2009	56
25	Evaluation of methods to detect CALR mutations in myeloproliferative neoplasms	Leukemia Research	2015	55
26	The Enhanced Recovery Programme for stoma patients: an audit	British Journal of Nursing	2010	54
27	Development and evaluation of a secondary reference panel for BCR-ABL1 quantification on the International Scale	Leukemia	2016	51
28	Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia	European Respiratory Journal	2021	49
29	8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients	American Journal of Medical Genetics, Part A	2013	47
30	Effectiveness of Functional Electrical Stimulation on Walking Speed, Functional Walking Category, and Clinically Meaningful Changes for People With Multiple Sclerosis	Archives of Physical Medicine and Rehabilitation	2015	47
31	Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)	Scientific Reports	2017	47
32	Initial management of low‐risk localized prostate cancer in the UK: analysis of the British Association of Urological Surgeons Cancer Registry	BJU International	2010	46
33	The effectiveness of influenza vaccination in pregnancy in relation to child health outcomes: Systematic review and meta-analysis	Vaccine	2020	44
34	Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease	BMC Nephrology	2018	39
35	Reconstruction of the perineum following anorectal cancer excision	International Journal of Colorectal Disease	2009	38
36	Inhibitory effects of midostaurin and avapritinib on myeloid progenitors derived from patients with KIT D816V positive advanced systemic mastocytosis	Leukemia	2019	38
37	New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies	Human Genetics	2019	38
38	Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression	British Journal of Haematology	2013	37
39	Is karyotyping couples experiencing recurrent miscarriage worth the cost?	BJOG: an International Journal of Obstetrics and Gynaecology	2010	36
40	Anaemia of chronic disease	Clinical Medicine	2013	35
41	Diagnosis and therapy of genetic haemochromatosis (review and 2017 update)	British Journal of Haematology	2018	33
42	16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2	European Journal of Human Genetics	2013	32
43	Next Generation Diagnostics in Inherited Arrhythmia Syndromes	Journal of Cardiovascular Translational Research	2013	31
44	Subclonal TP53 copy number is associated with prognosis in multiple myeloma	Blood	2018	29
45	8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families	Molecular Cytogenetics	2010	28
46	The lived experience and quality of life with burn scarring—The results from a large-scale online survey	Burns	2018	27
47	Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation	Journal of Medical Genetics	2019	26
48	JAK2 ex13InDel drives oncogenic transformation and is associated with chronic eosinophilic leukemia and polycythemia vera	Blood	2019	25
49	Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar	Human Mutation	2018	23
50	Clinical and Patient-reported Outcome Measures in Men Referred for Consideration of Surgery to Treat Lower Urinary Tract Symptoms: Baseline Results and Diagnostic Findings of the Urodynamics for Prostate Surgery Trial; Randomised Evaluation of Assessment Methods (UPSTREAM)	European Urology Focus	2019	23

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