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Institution · Sheffield Children's NHS Foundation Trust

Most cited papers from Sheffield Children's NHS Foundation Trust

Sheffield Children's NHS Foundation Trust

What are the most cited papers from Sheffield Children's NHS Foundation Trust?

The most cited paper from Sheffield Children's NHS Foundation Trust is "COVID-19: consider cytokine storm syndromes and immunosuppression" (Puja Mehta, Daniel Francis McAuley, Michael Brown et al., 2020), with 10,244 citations. Next come "The 2017 international classification of the Ehlers–Danlos syndromes" (1,940) and "The UK10K project identifies rare variants in health and disease" (1,195).

Showing 50 of 61 papers. Every paper with more than 173 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 COVID-19: consider cytokine storm syndromes and immunosuppression Puja Mehta, Daniel Francis McAuley, Michael Brown et al. · The Lancet Open access Mar 2020 10,244
2 The 2017 international classification of the Ehlers–Danlos syndromes Fransiska Malfait et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics Open access Mar 2017 1,940
3 The UK10K project identifies rare variants in health and disease Writing group et al. · Nature Open access349 authors 14 Sep 2015 1,195
4 Mapping the human genetic architecture of COVID-19 COVID-19 Host Genetics Initiative et al. · Nature Open access3,896 authors 8 Jul 2021 1,130
5 Recurrent gain of chromosomes 17q and 12 in cultured human embryonic stem cells Jonathan S. Draper, Kath Smith, Paul J. Gokhale et al. · Nature Biotechnology 7 Dec 2003 1,035
6 The effect of ADHD on the life of an individual, their family, and community from preschool to adult life Valerie Harpin · Archives of Disease in Childhood Open access 21 Jan 2005 797
7 Osteogenesis imperfecta Joan C. Marini, Antonella Forlino, Hans Peter Bächinger et al. · Nature Reviews Disease Primers Review 18 Aug 2017 788
8 Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study Jenny Lord et al. · The Lancet Open access108 authors Feb 2019 729
9 Evidence for 28 genetic disorders discovered by combining healthcare and research data Joanna Kaplanis et al. · Nature Open access282 authors 14 Oct 2020 698
10 Adaptation to culture of human embryonic stem cells and oncogenesis in vivo Duncan Baker, Neil J. Harrison, Edna L. Maltby et al. · Nature Biotechnology Feb 2007 654
11 Emergence and spread of a human-transmissible multidrug-resistant nontuberculous mycobacterium Josephine M. Bryant et al. · Science Open access 11 Nov 2016 603
12 Germline mutations in RAD51D confer susceptibility to ovarian cancer Chey Loveday et al. · Nature Genetics Open access 7 Aug 2011 547
13 Respiration rate monitoring methods: A review Farah Q. Al-Khalidi, Reza Saatchi, Derek P Burke et al. · Pediatric Pulmonology 31 Jan 2011 543
14 Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders Swedish Schizophrenia Study et al. · Nature Neuroscience Open access 14 Mar 2016 484
15 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
16 Fetal Mesenchymal Stem-Cell Engraftment in Bone after In Utero Transplantation in a Patient with Severe Osteogenesis Imperfecta Katarina Le Blanc, Cecilia Götherström, Olle T.H. Ringdén et al. · Transplantation 23 May 2005 455
17 Official ERS technical standard: Global Lung Function Initiative reference values for static lung volumes in individuals of European ancestry Graham L. Hall, Nicole Filipow, Gregg L Ruppel et al. · European Respiratory Journal Open access Mar 2021 414
18 Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel Jie Huang et al. · Nature Communications Open access239 authors 14 Sep 2015 387
19 Long-Term Outcomes of ADHD Valerie Harpin, Luigi Mazzone, Jean‐Philippe Raynaud et al. · Journal of Attention Disorders Open access 22 May 2013 382
20 A genetic study of Wilson’s disease in the United Kingdom Alison J. Coffey et al. · Brain Open access 21 Mar 2013 364
21 Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project David McHugh et al. · Genetics in Medicine Open access246 authors 16 Feb 2011 356
22 Consensus statement on abusive head trauma in infants and young children Arabinda K. Choudhary, Sabah E. Servaes, Thomas L. Slovis et al. · Pediatric Radiology 23 May 2018 353
23 The diagnosis and management of von W illebrand disease: a U nited K ingdom H aemophilia C entre D octors O rganization guideline approved by the B ritish C ommittee for S tandards in H aematology Mike A. Laffan, Will Lester, James S. O’Donnell et al. · British Journal of Haematology Open access 12 Aug 2014 353
24 Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72 Johnathan Cooper‐Knock et al. · Brain Open access 24 Feb 2012 340
25 Clinical delineation and natural history of the PIK3CA ‐related overgrowth spectrum Kim M. Keppler‐Noreuil et al. · American Journal of Medical Genetics Part A Open access 29 Apr 2014 319
26 Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome Najim Lahrouchi et al. · Journal of the American College of Cardiology Open access 24 Apr 2017 303
27 PPIB Mutations Cause Severe Osteogenesis Imperfecta Fleur S. van Dijk et al. · The American Journal of Human Genetics Open access 25 Sep 2009 301
28 Clonal culturing of human embryonic stem cells on laminin-521/E-cadherin matrix in defined and xeno-free environment Sergey Rodin et al. · Nature Communications Open access 27 Jan 2014 297
29 Post-mortem MRI versus conventional autopsy in fetuses and children: a prospective validation study Sudhin Thayyil, Neil James Sebire, Lyn S. Chitty et al. · The Lancet Open access 15 May 2013 296
30 Cellular differentiation hierarchies in normal and culture-adapted human embryonic stem cells Tariq Enver, Shamit Soneji, Chirag Joshi et al. · Human Molecular Genetics Open access 13 Sep 2005 296
31 Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus Beverley Anderson et al. · Nature Genetics Open access 22 Jan 2012 294
32 Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia Yilong Li et al. · Nature Open access 23 Mar 2014 291
33 High-resolution DNA analysis of human embryonic stem cell lines reveals culture-induced copy number changes and loss of heterozygosity Elisa Närvä et al. · Nature Biotechnology 28 Mar 2010 283
34 Digital pathology in clinical use: where are we now and what is holding us back? Jon Griffin, Darren E. Treanor · Histopathology 13 Dec 2016 272
35 Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) Philippa B. Mills et al. · Brain Open access 16 Jun 2010 268
36 Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer Elise Ruark et al. · Nature Open access 14 Dec 2012 258
37 British Association of Dermatologists guidelines for biologic therapy for psoriasis 2020: a rapid update Catherine Smith, Zenas Z N Yiu, Tracy Bale et al. · British Journal of Dermatology Open access 19 Mar 2020 257
38 Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study Tommy Nyberg et al. · European Urology Open access 6 Sep 2019 250
39 Mutations in BMP4 Cause Eye, Brain, and Digit Developmental Anomalies: Overlap between the BMP4 and Hedgehog Signaling Pathways Preeti Bakrania et al. · The American Journal of Human Genetics Open access Feb 2008 249
40 Whole-genome sequencing of a sporadic primary immunodeficiency cohort James E. D. Thaventhiran et al. · Nature Open access635 authors 6 May 2020 245
41 Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010 J. Gerard Loeber et al. · International Journal of Neonatal Screening Open access 5 Mar 2021 243
42 Heparin promotes the growth of human embryonic stem cells in a defined serum-free medium Miho Kusuda Furue, Jie Na, Jamie P. Jackson et al. · Proceedings of the National Academy of Sciences Open access 25 Aug 2008 241
43 Psychological Differences Between Children With and Without Soiling Problems Carol J. Joinson, Jon Heron, Ursula Butler et al. · PEDIATRICS May 2006 232
44 Quantifying the contribution of recessive coding variation to developmental disorders Hilary C. Martin et al. · Science Open access 8 Nov 2018 226
45 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
46 Obesity is a risk factor for fracture in children but is protective against fracture in adults: A paradox Paul Dimitri, Nick J. Bishop, Jennifer Walsh et al. · Bone 22 May 2011 211
47 Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients Marios Hadjivassiliou, Joanne E. Martindale, Priya Devi Shanmugarajah et al. · Journal of Neurology Neurosurgery & Psychiatry 13 Dec 2016 207
48 Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial Ravi Savarirayan et al. · The Lancet Sep 2020 206
49 Management and investigation of neonatal encephalopathy: 2017 update Kathryn A. Martinello, Anthony Richard Hart, Sufin Yap et al. · Archives of Disease in Childhood Fetal & Neonatal Open access 6 Apr 2017 202
50 The genetic basis of von Willebrand disease Anne C. Goodeve · Blood Reviews 21 Apr 2010 197

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.