• Genome-wide DNA methylation meta-analysis in the brains of suicide completers 

  Viana, Joana; Burrage, Joe; Hanon, Eilis; Mill, Jonathan; Dempster, E. L.; Murphy, Therese M. (Nature Publishing Group, 2020-02-19)

  Suicide is the second leading cause of death globally among young people representing a significant global health burden. Although the molecular correlates of suicide remains poorly understood, it has been hypothesised ...

• Reduced Expression of the Co-regulator TLE1 in Type 2 Diabetes Is Associated with Increased Islet α-Cell Number 

  Richardson, Sarah J.; Morgan, Noel (Oxford University Press, 2020-04-01)

  β-Cell dysfunction in type 2 diabetes (T2D) is associated with loss of cellular identity and mis-expression of alternative islet hormones, including glucagon. The molecular basis for these cellular changes has been attributed ...

• Large epigenome-wide association study of childhood ADHD identifies peripheral DNA methylation associated with disease and polygenic risk burden 

  Mill, Jonathan (Nature Publishing Group, 2020-01-21)

  Epigenetic variation in peripheral tissues is being widely studied as a molecular biomarker of complex disease and disease-related exposures. To date, few studies have examined differences in DNA methylation associated ...

• Transcriptional Signatures of Tau and Amyloid Neuropathology 

  Hannon, Eilis; Jeffries, A. R.; Walker, E.; Randall, Andrew; Moore, K. A.; O'Neill, P.; Lunnon, Katie; Mill, Jonathan (Elsevier Science, 2020-02-11)

  Alzheimer's disease (AD) is associated with the intracellular aggregation of hyperphosphorylated tau and the accumulation of β-amyloid in the neocortex. We use transgenic mice harboring human tau (rTg4510) and amyloid ...

• Using human genetics to understand the disease impacts of testosterone in men and women 

  Ruth, K. S.; Tyrrell, Jessica; Wood, Andrew R; Beaumont, Robin N.; Martin, Susan; Murray, Anna; Frayling, Timothy M. (Nature Publishing Group, 2020-02)

  Testosterone supplementation is commonly used for its effects on sexual function, bone health and body composition, yet its effects on disease outcomes are unknown. To better understand this, we identified genetic determinants ...

• The Mental and Physical Health of Older Adults With a Genetic Predisposition for Autism 

  Corbett, Anne; Ballard, Clive; Creese, Byron (Wiley, 2020-04)

  Autism commonly aggregates in families, with twin studies estimating heritability to be around 80%. Subclinical autism-like characteristics have also been found at elevated rates in relatives of autistic probands. Physical ...

• Genome-Wide DNA Methylation Patterns in Persistent Attention-Deficit/Hyperactivity Disorder and in Association With Impulsive and Callous Traits 

  Hannon, Eilis; Mill, Jonathan (Frontiers Media SA, 2020-01-31)

  Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder that often persists into adulthood. ADHD and related personality traits, such as impulsivity and callousness, are caused by genetic and ...

• Impact of sex on response to neoadjuvant chemotherapy in patients with bladder cancer 

  Campain, Nicholas J; McGrath, John S; Aning, Jonathan (Elsevier Science, 2020-07)

  Objective: To assess the effect of patient's sex on response to neoadjuvant chemotherapy (NAC) in patients with clinically nonmetastatic muscle-invasive bladder cancer (MIBC). Methods: Complete pathologic response, defined ...

• Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity 

  Walker, Gareth J.; Goodhand, James R.; Kennedy, Nicholas A.; Ahmad, Tariq (HighWire, 2020-03-10)

  As a prototype of genomics-guided precision medicine, individualized thiopurine dosing based on pharmacogenetics is a highly effective way to mitigate hematopoietic toxicity of this class of drugs. Recently, NUDT15 deficiency ...

• Rituximab for maintenance of remission in ANCA-associated vasculitis: expert consensus guidelines 

  Smyth, Lucy (Oxford University Press, 2020-04-01)

• Plasma Exchange and Glucocorticoids in Severe ANCA-Associated Vasculitis 

  Smyth, Lucy (Massachusetts Medical Society, 2020-02-13)

  Background: More effective and safer treatments are needed for antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis. Methods: We conducted a randomized trial with a 2-by-2 factorial design to evaluate the use ...

• Diagnosing Clostridioides difficile infections with molecular diagnostics: multicenter evaluation of revogene C. difficile assay 

  Hallet, Emma (Springer, 2020-06)

  Clostridioides difficile infections are a significant threat to our healthcare system, and rapid and accurate diagnostics are crucial to implement the necessary infection prevention and control measurements. Nucleic acid ...

• The use of deep neuromuscular blockade and reversal in ventral hernia surgery 

  Harries, R.; Smart, Neil J. (Springer, 2020-02-12)

• The challenge of diagnosing type 1 diabetes in older adults 

  Jones, A. G.; Shields, B. M.; Dennis, J. M.; Hattersley, Andrew T.; McDonald, Timothy J.; Thomas, N. J. (Wiley, 2020-02-11)

• Single dose high-dose rate (HDR) brachytherapy (BT) as monotherapy for localised prostate cancer: Early results of a UK national cohort study 

  Lydon, Anna (Elsevier Science, 2020-02-07)

  Background: HDR brachytherapy alone is effective for the treatment of localised prostate cancer when given in 2-4 or more fractions. Single dose treatment has been explored in small cohort studies to date. This paper reports ...

• Update of variants identified in the pancreatic β-cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes 

  De Franco, Elisa; Bowman, Pamela; Harman, Bradley; Laver, T. W.; Houghton, Jayne A. L.; Ellard, Sian; Flanagan, S. E. (Wiley, 2020-05)

  The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the β-cell ATP-sensitive potassium channel, a key component of the ...

• Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389 

  Laver, T. W.; Houghton, Jayne A. L.; Ellard, Sian; Flanagan, S. E. (Public Library of Science, 2020-02-06)

  ongenital hyperinsulinism (CHI) is a significant cause of hypoglycaemia in neonates and infants with the potential for permanent neurologic injury. Accurate calculations of the incidence of rare diseases such as CHI are ...

• Psychosis-associated DNA methylomic variation in Alzheimer's disease cortex 

  Pishva, Ehsan; Creese, Byron; Smith, Adam R.; Ballard, Clive; Mill, Jonathan; Lunnon, Katie (Elsevier Science, 2020-05)

  Psychotic symptoms are a common and debilitating feature of Alzheimer's disease (AD) and are associated with a more rapid course of decline. Current evidence from postmortem and neuroimaging studies implicates frontal, ...

• Renal nitrate clearance in chronic kidney disease 

  Williams, Jennifer K.; Smallwood, M. J.; Benjamin, N.; D'Souza, Richard J.; Shore, Angela C; Winyard, P. G.; Gilchrist, M. (Elsevier Science, 2020-04)

  Background: Nitric oxide (NO) is rapidly oxidised in humans to nitrite and nitrate, with nitrate being present in much greater abundance. These oxidation products can be recycled back into nitric oxide via a complex ...

• Clozapine-induced transcriptional changes in the zebrafish brain 

  Viana, Joana; Hannon, Eilis; Mill, Jonathan (Springer Nature, 2020-02-03)

  Clozapine is an atypical antipsychotic medication that is used to treat schizophrenia patients who are resistant to other antipsychotic drugs. The molecular mechanisms mediating the effects of clozapine are not well ...

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