Institute of Genetics and Cancer

Research output

Research output per year 1972 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2019 2020 2021 2022 2023 2024

• 7741 Article
• 339 Meeting abstract
• 180 Review article
• 129 Literature review
• 745 More
  • 101 Abstract
  • 94 Chapter
  • 92 Letter
  • 91 Conference contribution
  • 83 Editorial
  • 67 Comment/debate
  • 40 Poster
  • 28 Book/Film/Article review
  • 27 Paper
  • 26 Chapter (peer-reviewed)
  • 18 Preprint
  • 14 Book
  • 9 Other chapter contribution
  • 9 Patent
  • 7 Other report
  • 6 Doctoral Thesis
  • 6 Working paper
  • 4 Other
  • 4 Special issue
  • 3 Conference article
  • 3 Short survey
  • 3 Web publication/site
  • 3 Other contribution
  • 2 Commissioned report
  • 1 Entry for encyclopedia/dictionary
  • 1 Digital or Visual Products
  • 1 Performance
  • 1 Protocols
  • 1 Master's Thesis

Research output per year

Research output per year

Search results

• 2024

  Inheritance of STING mosaicism in two half-siblings

  SAVI study group & Crow, Y. J., 30 Jul 2024, In: Journal of Clinical Immunology.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

• A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant

  Spegarova, J. S., Sinnappuraja, P., Al Julandan, D., Navickas, R., Griffin, H., Ahuja, M., Grainger, A., Livingstone, K., Rice, G. I., Sutherland, F., Hayes, C., Parke, S., Pang, L., Roderic, M. R., Slatter, M., Crow, Y. J., Ramanan, A. V. & Hambleton, S., 16 May 2024, (E-pub ahead of print) In: Journal of Clinical Investigation.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
• 2023

  Long COVID research: an update from the PHOSP-COVID Scientific Summit

  PHOSP-COVID Collaborative Group, 1 Nov 2023, In: The Lancet Respiratory Medicine. 11, 11, p. e93-e94

  Research output: Contribution to journal › Letter › peer-review

• Defining gene–lifestyle interactions in inflammatory bowel disease: progress towards understanding disease pathogenesis

  Zhao, J., Chen, J., Sun, Y., Yuan, S., Wellens, J., Kalla, R., Theodoratou, E., Li, X. & Satsangi, J., 4 Apr 2023, (E-pub ahead of print) In: Gut.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

• Concerns about pathology expertise and data quality

  McInnes, E. F., Meyerholz, D. K. & Arends, M. J., 30 Jan 2023, (E-pub ahead of print) In: Journal of Pathology.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

• Clinical non-penetrance associated with biallelic mutations in the RNase H2 complex

  Crow, Y. J., 27 Jan 2023, (E-pub ahead of print) In: Journal of Clinical Immunology.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

• STING-associated vasculopathy with onset in infancy (SAVI) presenting as massive intra alveolar haemorrhage

  Ladoux, C., Pasquet, M., Crow, Y. J., Frémond, M-L. & Roditis, L., 17 Jan 2023, In: Journal of Clinical Immunology.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
• 2022

  Withdrawal of the British Society of Gastroenterology IBD risk grid for COVID-19 severity

  Lees, C. W., Ahmad, T., Lamb, C. A., Powell, N., Din, S., Cooney, R., Kennedy, N. A., Ainley, R., Wakeman, R. & Selinger, C. P., 5 May 2022, (E-pub ahead of print) In: Gut. 72, 2, p. 410-412

  Research output: Contribution to journal › Letter › peer-review
• 2021

  Effect of Vaccination on Transmission of SARS-CoV-2

  Shah, A. S. V., Gribben, C., Bishop, J., Hanlon, P., Caldwell, D., Wood, R., Reid, M., Mcmenamin, J., Goldberg, D., Stockton, D., Hutchinson, S., Robertson, C., Mckeigue, P. M., Colhoun, H. M. & Mcallister, D. A., 8 Sept 2021, In: New England Journal of Medicine.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

• Letter: risk of severe COVID-19 outcomes associated with inflammatory bowel disease medications-reassuring insights from the United Kingdom PREPARE-IBD multicentre cohort study

  PREPARE-IBD Study Group, Lamb, C. A., Sebastian, S., Kent, A. J., Segal, J. P., Gonzalez, H. A., Brookes, M. J., Mehta, S. J., Subramanian, S., Bhala, N., Hicks, L. C., Conley, T. E., Patel, K. V., Walker, G. J. & Kennedy, N. A., Jun 2021, In: Alimentary Pharmacology and Therapeutics. 53, 11, p. 1236-1240 5 p.

  Research output: Contribution to journal › Letter › peer-review

  • Risk 100%
  • Cohort 100%
  • Inflammatory Bowel Disease 100%
  • Correspondence 100%
  • Introspection 100%

• Microvascular disease in diabetes and severe COVID-19 outcomes – Authors' reply

  Colhoun, H. M., McGurnaghan, S. J. & McKeigue, P. M., 1 Apr 2021, In: The Lancet Diabetes and Endocrinology. 9, 4, p. 201 1 p.

  Research output: Contribution to journal › Letter › peer-review
• 2020

  The UK needs a sustainable strategy for COVID-19

  Gurdasani, D., Bear, L., Bogaert, D., Burgess, R. A., Busse, R., Cacciola, R., Charpak, Y., Colbourn, T., Drury, J., Friston, K., Gallo, V., Goldman, L. R., Greenhalgh, T., Hyde, Z., Kuppalli, K., Majumder, M. S., Martin-moreno, J. M., Mckee, M., Michie, S., Mossialos, E., & 17 othersNouri, A., Pagel, C., Pimenta, D., Popescu, S., Priesemann, V., Rasmussen, A. L., Reicher, S., Ricciardi, W., Rice, K., Silver, J., Smith, T. C., Wenham, C., West, R., Yamey, G., Yates, C., Ziauddeen, H. & Cameron, D. A., 9 Nov 2020, In: The Lancet.

  Research output: Contribution to journal › Letter › peer-review

• Risk mitigation for suspected colorectal cancer diagnostic pathway during COVID-19 pandemic: Risk Mitigation for Colorectal Cancer during COVID-19 pandemic

  Maeda, Y., Dunlop, M. G. & Din, F. V. N., 23 Jul 2020, In: British Journal of Surgery.

  Research output: Contribution to journal › Letter › peer-review

• Distinguishing between direct and indirect consequences of covid-19

  Figueroa, J. D., Brennan, P. M., Theodoratou, E., Poon, M. T. C., Purshouse, K., Din, F. V. N., Jin, K., Mesa-Eguiagaray, I., Dunlop, M. G., Hall, P. S., Cameron, D., Wild, S. H. & Sudlow, C. L. M., 15 Jun 2020, In: BMJ (Clinical research ed.). 369, p. m2377

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

• Neuromyelitis optica in patients with increased interferon alpha concentrations

  Williams, J., Mcglasson, S., Irani, S., Duffy, D., Crow, Y., Hunt, D., Katy, M., Robert, W., Andrew P, J., Alexa, J., Mathieu, R., Vincent, B., Anu, J., Shahd, H., Nuno, C., Ondrej, D., Patrick, S., Stewart, W., Joanna, W., Christina, H., & 1 othersAdrian, H., 1 Jan 2020, In: The Lancet Neurology. 19, 1, p. 31-33

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
• 2019

  Exercise Window Trial in Newly Diagnosed Breast Cancer - Letter

  Sims, A., Leggate, M. & Campbell, A., 16 Dec 2019, (E-pub ahead of print) In: Clinical Cancer Research.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

• Methylation of glucocorticoid receptor (NR3C1), BDNF and oxytocin receptor genes in association with childhood maltreatment in schizophrenia and schizoaffective disorder

  Barker, V., Walker, R. M., Evans, K. L. & Lawrie, S. M., 5 Dec 2019, (E-pub ahead of print) In: Schizophrenia Research.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
• 2018

  JAK 1/2 blockade in MDA5 gain-of-function

  McLellan, K., Martin, N., Davidson, J., Cordeiro, N., Oates, B., Neven, B., Rice, G. I. & Crow, Y., 15 Nov 2018, (E-pub ahead of print) In: Journal of Clinical Immunology.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

• A child with severe juvenile dermatomyositis treated with ruxolitinib

  Aeschlimann, F. A., Frémond, M-L., Duffy, D., Rice, G. I., Charuel, J-L., Bondet, V., Saire, E., Neven, B., Bodemer, C., Balu, L., Gitiaux, C., Crow, Y. J. & Bader-Meunier, B., 15 Oct 2018, (E-pub ahead of print) In: Brain. 141, 11

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

• Funding mechanisms risk promoting conscious bias

  Bickmore, W., Cunningham-burley, S. & Frame, M., 10 Oct 2018, In: Nature. 562, 7726, p. 192-192

  Research output: Contribution to journal › Letter › peer-review

• Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency

  Briand, C., Frémond, M-L., Bessis, D., Carbasse, A., Rice, G. I., Bondet, V., Duffy, D., Blanche, S., Crow, Y. & Neven, B., 3 Oct 2018, (E-pub ahead of print) In: Annals of the Rheumatic Diseases.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
• 2017

  Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy

  Lawless, D., Mistry, A., Wood, P. M., Stahlschmidt, J., Arumugakani, G., Hull, M., Parry, D., Anwar, R., Carter, C. & Savic, S., 1 Oct 2017, In: Journal of Clinical Immunology. 37, 7, p. 617-622 6 p.

  Research output: Contribution to journal › Letter › peer-review

• Reply to ‘Comment on ‘The impact of vitamin D pathway genetic variation and circulating 25-hydroxyvitamin D on cancer outcome: systematic review and meta-analysis’’

  Zgaga, L., Vaughan-shaw, P. G., O’sullivan, F., Farrington, S. M., Theodoratou, E., Campbell, H. & Dunlop, M., 22 Jun 2017, In: British Journal of Cancer.

  Research output: Contribution to journal › Letter

  Open Access

  File

• Urgent improvements needed to diagnose and manage Lynch syndrome

  Monahan, K. J., Alsina, D., Bach, S., Buchanan, J., Burn, J., Clark, S., Dawson, P., De Souza, B., Din, F. V. N., Dolwani, S., Dunlop, M. G., East, J., Evans, D. G., Fearnhead, N., Frayling, I. M., Glynne-jones, R., Hill, J., Houlston, R., Hull, M., Lalloo, F., & 10 othersLatchford, A., Lishman, S., Quirke, P., Rees, C., Rutter, M., Sasieni, P., Senapati, A., Speake, D., Thomas, H. & Tomlinson, I., 23 May 2017, In: BMJ. 356, j1388.

  Research output: Contribution to journal › Letter › peer-review

• Antidrug Antibodies in Patients Treated with Alirocumab

  Roth, E. M., Goldberg, A. C., Catapano, A. L., Torri, A., Yancopoulos, G. D., Stahl, N., Brunet, A., Lecorps, G. & Colhoun, H. M., 20 Apr 2017, In: New England Journal of Medicine. 376, 16, p. 1589-90 2 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

• RE: Semaglutide and Cardiovascular Outcomes in Patients with Type 2 Diabetes

  Williams, T. & Stewart, E., 2 Mar 2017, In: New England Journal of Medicine. 376, 9, p. 890-892

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

• Returning genome sequences to research participants: Policy and practice

  Wright, C. F., Middleton, A., Barrett, J. C., Firth, H. V., FitzPatrick, D. R., Hurles, M. E. & Parker, M., 24 Feb 2017, (E-pub ahead of print) In: Wellcome Open Research . 2, p. 15

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

  • Genomics 100%
  • Research 100%
  • Research Participant 100%
  • Study Participant 66%
  • Family 66%

• A plea for TDM-based optimisation for treatment of Crohn's disease - Authors' reply

  Kennedy, N., Keerie, C., Mowat, C. & Satsangi, J., 1 Feb 2017, In: The Lancet Gastroenterology & Hepatology. 2, 2, p. 81-82 2 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

• Secondary care costs associated with lung cancer diagnosed at emergency hospitalisation in the United Kingdom

  Kennedy, M. PT., Hall, P. S. & Callister, M. EJ., 30 Jan 2017, In: Thorax.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

• Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118

  Livingston, J. H. & Crow, Y. J., 15 Jan 2017, In: Journal of the Neurological Sciences. 372, p. 443

  Research output: Contribution to journal › Letter › peer-review
• 2016

  Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children

  Frémond, M-L., Rodero, M. P., Jeremiah, N., Belot, A., Jeziorski, E., Duffy, D., Bessis, D., Cros, G., Rice, G. I., Charbit, B., Hulin, A., Khoudour, N., Caballero, C. M., Bodemer, C., Fabre, M., Berteloot, L., Le Bourgeois, M., Reix, P., Walzer, T., Moshous, D., & 6 othersBlanche, S., Fischer, A., Bader-Meunier, B., Rieux-Laucat, F., Crow, Y. J. & Neven, B., Dec 2016, In: Journal of Allergy and Clinical Immunology. 138, 6, p. 1752-1755 4 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

• Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations

  Gorman, K. M., Lynch, S. A., Schneider, A., Grange, D. K., Williamson, K. A., FitzPatrick, D. R. & King, M. D., Nov 2016, In: The American Journal of Medical Genetics - Part A (AJMG). 170, 11

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

• A Case of SLC29A3 Spectrum Disorder—Unresponsive to Multiple Immunomodulatory Therapies

  Mistry, A., Parry, D., Matthews, B., Laws, P., Goodfield, M. & Savic, S., 1 Jul 2016, In: Journal of Clinical Immunology. 36, 5, p. 429-433 5 p.

  Research output: Contribution to journal › Letter › peer-review

• De novo mutations in autosomal recessive congenital malformations

  Black, H., Parry, D., Atanur, S., Ross, D., Rose, E., Russell, H., Stock, S., Warner, J., Porteous, M., Aitman, T. & Evans, M. J., 9 Jun 2016, (E-pub ahead of print) In: Genetics in Medicine.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File
• 2015

  Autoantibodies to osteoprotegerin are associated with increased bone resorption in rheumatoid arthritis

  Hauser, B., Riches, P. L., Gilchrist, T., Visconti, M. R., Wilson, J. F. & Ralston, S. H., 9 Jul 2015, In: Annals of the Rheumatic Diseases. 74, 1, p. 1631-1632

  Research output: Contribution to journal › Letter › peer-review

• Temperature-sensitive splicing of mitfa by an intron mutation in zebrafish

  Zeng, Z., Johnson, S. L., Lister, J. A. & Patton, E. E., Mar 2015, In: Pigment Cell & Melanoma Research. 28, 2, p. 229-32 4 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

  File

• Reply to F.J.S. Conway et Al: Potential Confounding by the Systemic Inflammatory Response Reply

  Dunlop, M. G., Zgaga, L., Theodoratou, E., Farrington, S. M., Din, F. V. N. & Campbell, H., 10 Jan 2015, In: Journal of Clinical Oncology. 33, 2, p. 224-5 2 p.

  Research output: Contribution to journal › Letter › peer-review
• 2014

  Juvenile stress produces long-lasting changes in hippocampal DISC1, GSK3ß and NRG1 expression

  Brydges, N. M., Seckl, J., Torrance, H. S., Holmes, M. C., Evans, K. L. & Hall, J., Aug 2014, In: Molecular Psychiatry. 19, 8, p. 854-855 2 p.

  Research output: Contribution to journal › Letter › peer-review

• Anti-calponin 1 antibodies highlight intracytoplasmic inclusions of infantile digital fibromatosis

  Henderson, H., Peng, Y-J. & Salter, D. M., Apr 2014, In: Histopathology. 64, 5, p. 752-755

  Research output: Contribution to journal › Letter › peer-review

  • Antibody 100%
  • Aggressive Fibromatosis 100%
  • Lesion 66%
  • Recurrent Disease 33%
  • Infant 33%

• Banked donor human milk: more research is needed. e-letter in response to Verd S, Porta R, Ginovart G. Human milk feeding

  Menon, G. & Williams, T., 2014, In: Archives of Disease in Childhood. Fetal and Neonatal Edition. 99, p. F172-F173

  Research output: Contribution to journal › Letter
• 2013

  Risk stratification for diabetic eye screening. Reply to Stratton I. M. and Aldington S. J. [letter]

  Looker, H. C., Nyangoma, S. O., Cromie, D. T., Olson, J. A., Leese, G. P., Philip, S., Black, M. W., Doig, J., Lee, N., Briggs, A., Hothersall, E. J., Morris, A. D., Lindsay, R. S., McKnight, J. A., Pearson, D. W. M., Sattar, N. A., Wild, S. H., McKeigue, P., Colhoun, H. M., on behalf of the Scottish Diabetes Research Network Epidemiology, G., & 1 othersthe Scottish Diabetic Retinopathy, C., 8 Nov 2013, In: Diabetologia. 57, 1, p. 260-261 2 p.

  Research output: Contribution to journal › Letter › peer-review

• Association of DISC1 variants with age of onset in a population-based sample of recurrent major depression

  Thomson, P. A., MacIntyre, D. J., Hamilton, G., Dominiczak, A., Smith, B. H., Morris, A., Evans, K. L., Porteous, D. J. & MacIntyre, D., 7 Aug 2013, In: Molecular Psychiatry. 18, 7, p. 745-747 4 p.

  Research output: Contribution to journal › Letter › peer-review

• Therapy for chemotherapy-induced peripheral neuropathy

  Seretny, M., Colvin, L. & Fallon, M., 7 Aug 2013, In: Journal of the American Medical Association. 310, 5, p. 537-538 2 p.

  Research output: Contribution to journal › Letter › peer-review

• Beware using secular trends in deaths to judge effectiveness of breast screening

  Brewster, D. H., Bhatti, L. A., Thomson, C. S., Cameron, D. A. & Dewar, J. A., 10 Jul 2013, In: British Medical Journal (BMJ). 347, 2 p., 4335.

  Research output: Contribution to journal › Letter › peer-review

• Papillorenal syndrome in a family with unusual complications

  Megaw, R. D., Lampe, A., Dhillon, B., Yoshida, S. & Wright, A. F., Jul 2013, In: British Journal of Ophthalmology. 97, 7, p. 945-U204 2 p.

  Research output: Contribution to journal › Letter

• RE: Curriculum integration will help newly qualified doctors provide better supportive and end-of-life care

  Bowden, J., Dempsey, K., Boyd, K., Fallon, M. & Murray, S., 24 Jun 2013, In: Journal of the Royal College of Physicians of Edinburgh. 43, 2, 1 p.

  Research output: Contribution to journal › Letter › peer-review

  Open Access

• State of Diabetes, Hypertension, and Comorbidity in Kuwait: Showcasing the Trends as Seen in Native Versus Expatriate Populations

  Channanath, A. M., Farran, B., Behbehani, K. & Thanaraj, T. A., Jun 2013, In: Diabetes Care. 36, 6, p. E75-E75 1 p.

  Research output: Contribution to journal › Letter

• The benefits and harms of breast cancer screening Reply

  Independent UK Panel Breast Canc, Marmot, M. G., Altman, D. G., Cameron, D. A., Dewar, J. A., Thompson, S. G. & Wilcox, M., 9 Mar 2013, In: The Lancet. 381, 9869, p. 803-804 2 p.

  Research output: Contribution to journal › Letter › peer-review

• Head circumference needs to be measured Reply

  Murray, J. & Jackson, A., Feb 2013, In: Developmental Medicine & Child Neurology (DMCN). 55, 2, p. 194-194 1 p.

  Research output: Contribution to journal › Letter › peer-review
• 2012

  Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

  Rice, G. I., Kasher, P. R., Forte, G. M. A., Mannion, N. M., Greenwood, S. M., Szynkiewicz, M., Dickerson, J. E., Bhaskar, S. S., Zampini, M., Briggs, T. A., Jenkinson, E. M., Bacino, C. A., Battini, R., Bertini, E., Brogan, P. A., Brueton, L. A., Carpanelli, M., De Laet, C., de Lonlay, P., del Toro, M., & 34 othersDesguerre, I., Fazzi, E., Garcia-Cazorla, A., Heiberg, A., Kawaguchi, M., Kumar, R., Lin, J-P. S-M., Lourenco, C. M., Male, A. M., Marques, W., Mignot, C., Olivieri, I., Orcesi, S., Prabhakar, P., Rasmussen, M., Robinson, R. A., Rozenberg, F., Schmidt, J. L., Steindl, K., Tan, T. Y., van der Merwe, W. G., Vanderver, A., Vassallo, G., Wakeling, E. L., Wassmer, E., Whittaker, E., Livingston, J. H., Lebon, P., Suzuki, T., McLaughlin, P. J., Keegan, L. P., O'Connell, M. A., Lovell, S. C. & Crow, Y. J., Nov 2012, In: Nature Genetics. 44, 11, p. 1243-8 6 p.

  Research output: Contribution to journal › Letter › peer-review

  • Mutation 100%
  • Interferon Type I 100%
  • RNA 100%
  • Adenosine Deaminase 40%
  • Non-Coding RNA 20%