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Institution · Salisbury NHS Foundation Trust

Most cited papers from Salisbury NHS Foundation Trust

Salisbury NHS Foundation Trust

What are the most cited papers from Salisbury NHS Foundation Trust?

The most cited paper from Salisbury NHS Foundation Trust is "Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes" (Heather C. Mefford et al., 2008), with 816 citations. Next come "Evidence for 28 genetic disorders discovered by combining healthcare and research data" (698) and "Whole-genome sequencing of patients with rare diseases in a national health system" (589).

Showing 50 of 59 papers. Every paper with more than 94 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes Heather C. Mefford et al. · New England Journal of Medicine Open access 10 Sep 2008 816
2 Evidence for 28 genetic disorders discovered by combining healthcare and research data Joanna Kaplanis et al. · Nature Open access282 authors 14 Oct 2020 698
3 Whole-genome sequencing of patients with rare diseases in a national health system Ernest Turro et al. · Nature Open access512 authors 24 Jun 2020 589
4 EULAR definition of difficult-to-treat rheumatoid arthritis György Nagy et al. · Annals of the Rheumatic Diseases Open access Oct 2020 570
5 Transdermal oestrogen for treatment of severe postnatal depression Alain Grégoire, Ramesh Channi Kumar, Barry J. Everitt et al. · The Lancet Apr 1996 570
6 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing the INTERVAL Study et al. · Nature Genetics Open access Aug 2016 475
7 EURECCA colorectal: Multidisciplinary management: European consensus conference colon & rectum Cornelis J.�H. van de Velde et al. · European Journal of Cancer 31 Oct 2013 409
8 Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome Bregje W.M. van Bon et al. · Journal of Medical Genetics Open access 15 Apr 2009 372
9 World Endoscopy Organization Consensus Statements on Post-Colonoscopy and Post-Imaging Colorectal Cancer Matthew D. Rutter et al. · Gastroenterology Open access 27 Jun 2018 366
10 The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study Elisa De Franco, Sarah Elizabeth Flanagan, Jayne Houghton et al. · The Lancet Open access 29 Jul 2015 350
11 Defining conditions where long-term glucocorticoid treatment has an acceptably low level of harm to facilitate implementation of existing recommendations: viewpoints from an EULAR task force Cindy Strehl et al. · Annals of the Rheumatic Diseases Mar 2016 339
12 Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia Daniel Moreno‐De‐Luca et al. · The American Journal of Human Genetics Open access Nov 2010 335
13 Guideline for investigation and management of adults and children presenting with a thrombocytosis Claire N. Harrison, David Bareford, Nauman M. Butt et al. · British Journal of Haematology Open access 15 Mar 2010 318
14 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways Heather Jane Cordell et al. · Nature Communications Open access462 authors 22 Sep 2015 313
15 EULAR points to consider for the management of difficult-to-treat rheumatoid arthritis György Nagy et al. · Annals of the Rheumatic Diseases Open access 18 Aug 2021 292
16 Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia Yilong Li et al. · Nature Open access 23 Mar 2014 291
17 Botulinum toxin type A and other botulinum toxin serotypes: a comparative review of biochemical and pharmacological actions Kei Roger Aoki, Barry M. Guyer · European Journal of Neurology Nov 2001 264
18 Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases Yiannis Ioannides, Oluwakemi Lokulo‐Sodipe, Deborah Mackay et al. · Journal of Medical Genetics 2 Jun 2014 264
19 Consensus statement on the multidisciplinary management of patients with recurrent and primary rectal cancer beyond total mesorectal excision planes The Beyond TME Collaborative et al. · British journal of surgery 21 Jun 2013 261
20 Points to consider for reporting, screening for and preventing selected comorbidities in chronic inflammatory rheumatic diseases in daily practice: a EULAR initiative Athan C. Baillet et al. · Annals of the Rheumatic Diseases Open access 16 Mar 2016 260
21 Combining gene mutation with gene expression data improves outcome prediction in myelodysplastic syndromes Moritz Gerstung, Andrea Pellagatti, Luca Malcovati et al. · Nature Communications Open access 9 Jan 2015 256
22 Large-scale migration into Britain during the Middle to Late Bronze Age Nick J. Patterson et al. · Nature Open access223 authors 22 Dec 2021 251
23 Whole-genome sequencing of a sporadic primary immunodeficiency cohort James E. D. Thaventhiran et al. · Nature Open access635 authors 6 May 2020 245
24 Development and external validation of a nomogram and online tool to predict bowel dysfunction following restorative rectal cancer resection: the POLARS score Nick J. Battersby, George Bouliotis, Katrine J. Emmertsen et al. · Gut 23 Jan 2017 243
25 A Placebo-Controlled Trial of Percutaneous Coronary Intervention for Stable Angina Christopher Rajkumar et al. · New England Journal of Medicine Open access 11 Nov 2023 229
26 Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 Magdalena Koczkowska et al. · The American Journal of Human Genetics Open access 28 Dec 2017 223
27 Investigation and management of a raised serum ferritin Jonathan Cullis, Edward J. Fitzsimons, William J. Griffiths et al. · British Journal of Haematology Open access 19 Apr 2018 214
28 Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans Louise E Docherty et al. · Nature Communications Open access Sep 2015 208
29 A global perspective on changes in the burden of caries and periodontitis: implications for dentistry* Vibeke Bælum, Wim van Palenstein Helderman, Anders Hugoson et al. · Journal of Oral Rehabilitation 21 Nov 2007 198
30 Relapsing diabetes can result from moderately activating mutations in KCNJ11 Anna L. Gloyn, Frank M. Reimann, Christophe A. J. Girard et al. · Human Molecular Genetics 17 Feb 2005 198
31 Management of the malignant colorectal polyp: ACPGBI position statement John Gordon Williams, Rupert D. Pullan, James Edward Hill et al. · Colorectal Disease 12 Jul 2013 187
32 Clonal myelopoiesis in the UK Biobank cohort: ASXL1 mutations are strongly associated with smoking Ahmed A. Z. Dawoud, William Tapper, Nicholas C.P. Cross · Leukemia Open access 10 Jun 2020 184
33 An imprinted gene(s) for diabetes? I. Karen Temple, Rowena S. James, John Anthony Crolla et al. · Nature Genetics Feb 1995 178
34 Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype–phenotype correlation in an international cohort of patients Louise E Docherty, Steven Ndugwa Kabwama, Anna Paulina Lehmann et al. · Diabetologia Open access 5 Feb 2013 176
35 Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families the DDD study et al. · Nature Genetics Open access 5 Oct 2015 167
36 Mitochondrial dysfunction in long COVID: mechanisms, consequences, and potential therapeutic approaches Tihamér Molnár, Andrea Lehoczki, Mónika Fekete et al. · GeroScience Open access 26 Apr 2024 159
37 Diagnosis and management of anaemia of chronic disease: current status Jonathan Cullis · British Journal of Haematology Open access 25 May 2011 151
38 Organophosphorus nerve agent poisoning: managing the poisoned patient Elspeth J. Hulse, James D. Haslam, Stevan R. Emmett et al. · British Journal of Anaesthesia Open access 25 Jun 2019 149
39 Mosaic Turner syndrome shows reduced penetrance in an adult population study Marcus A. Tuke, Katherine S. Ruth, Andrew R. Wood et al. · Genetics in Medicine Open access 3 Sep 2018 141
40 Dipsticks and diagnostic algorithms in urinary tract infection: development and validation, randomised trial, economic analysis, observational cohort and qualitative study Paul S Little, Sheila Turner, Kate Rumsby et al. · Health Technology Assessment Open access Mar 2009 137
41 8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH John C.K. Barber, Viv K. Maloney, Shuwen Huang et al. · European Journal of Human Genetics 17 Oct 2007 128
42 Validation of the English translation of the low anterior resection syndrome score Therese Juul, Nick J. Battersby, Peter Christensen et al. · Colorectal Disease 24 Mar 2015 128
43 CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language Lot Snijders Blok et al. · Nature Communications Open access379 authors 30 Oct 2018 125
44 The effect of combined use of botulinum toxin type A and functional electric stimulation in the treatment of spastic drop foot after stroke: a preliminary investigation11No commercial party having a direct financial interest in the results of the research supporting this article has or will confer a benefit upon the authors or upon any organization with which the authors are associated. Catherine A Johnson, Jane Helena Burridge, Paul W. Strike et al. · Archives of Physical Medicine and Rehabilitation Jun 2004 125
45 Population-based cohort study of outcomes following cholecystectomy for benign gallbladder diseases Ravinder Vohra et al. · British journal of surgery Open access641 authors 26 Aug 2016 122
46 Is karyotyping couples experiencing recurrent miscarriage worth the cost? JCK Barber, AE Cockwell, Edward Grant et al. · BJOG An International Journal of Obstetrics & Gynaecology 10 May 2010 120
47 Translation of evidence-based Assistive Technologies into stroke rehabilitation: users’ perceptions of the barriers and opportunities Ann‐Marie Hughes, Jane Helena Burridge, Sara Holtum Demain et al. · BMC Health Services Research Open access 12 Mar 2014 118
48 A study of factors associated with cost and variation in prescribing among GPs P Carthy, Ian Harvey, R. Brawn et al. · Family Practice Feb 2000 114
49 Orbital exenteration for invasive skin tumours Anthony G. Tyers · Eye Oct 2006 112
50 Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia Amelia Shoemark et al. · European Respiratory Journal Open access 21 Jan 2021 111

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.