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Welcome to the research outputs of the University of Exeter Institute of Medical Education, part of the University of Exeter Medical School

Recent Submissions

  • Prevalence and architecture of de novo mutations in developmental disorders. 

    Deciphering Developmental Disorders Study (Nature Publishing Group, 2017-01-25)
    The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing ...
  • Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 

    Sifrim, A; Hitz, M-P; Wilsdon, A; Breckpot, J; Turki, SHA; Thienpont, B; McRae, J; Fitzgerald, TW; Singh, T; Swaminathan, GJ; Prigmore, E; Rajan, D; Abdul-Khaliq, H; Banka, S; Bauer, UMM; Bentham, J; Berger, F; Bhattacharya, S; Bu'Lock, F; Canham, N; Colgiu, I-G; Cosgrove, C; Cox, H; Daehnert, I; Daly, A; Danesh, J; Fryer, A; Gewillig, M; Hobson, E; Hoff, K; Homfray, T; INTERVAL Study; Kahlert, A-K; Ketley, A; Kramer, H-H; Lachlan, K; Lampe, AK; Louw, JJ; Manickara, AK; Manase, D; McCarthy, KP; Metcalfe, K; Moore, C; Newbury-Ecob, R; Omer, SO; Ouwehand, WH; Park, S-M; Parker, MJ; Pickardt, T; Pollard, MO; Robert, L; Roberts, DJ; Sambrook, J; Setchfield, K; Stiller, B; Thornborough, C; Toka, O; Watkins, H; Williams, D; Wright, M; Mital, S; Daubeney, PEF; Keavney, B; Goodship, J; UK10K Consortium; Abu-Sulaiman, RM; Klaassen, S; Wright, CF; Firth, HV; Barrett, JC; Devriendt, K; FitzPatrick, DR; Brook, JD; Deciphering Developmental Disorders Study; Hurles, ME (Nature Publishing Group, 2016-08-01)
    Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable ...
  • Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. 

    Wright, CF; McRae, JF; Clayton, S; Gallone, G; Aitken, S; FitzGerald, TW; Jones, P; Prigmore, E; Rajan, D; Lord, J; Sifrim, A; Kelsell, R; Parker, MJ; Barrett, JC; Hurles, ME; FitzPatrick, DR; Firth, HV (Nature Publishing Group, 2018-01-11)
    PurposeGiven the rapid pace of discovery in rare disease genomics, it is likely that improvements in diagnostic yield can be made by systematically reanalyzing previously generated genomic sequence data in light of new ...
  • Delayed Cryptochrome Degradation Asymmetrically Alters the Daily Rhythm in Suprachiasmatic Clock Neuron Excitability. 

    Wegner, S; Belle, MDC; Hughes, ATL; Diekman, CO; Piggins, HD (Society for Neuroscience, 2017-08-16)
    Suprachiasmatic nuclei (SCN) neurons contain an intracellular molecular circadian clock and the Cryptochromes (CRY1/2), key transcriptional repressors of this molecular apparatus, are subject to post-translational modification ...
  • Circadian regulation of mouse suprachiasmatic nuclei neuronal states shapes responses to orexin. 

    Belle, MDC; Piggins, HD (Wiley, 2016-12-17)
    Our knowledge of how circadian and homeostatic brain circuits interact to temporally organize physiology and behavior is limited. Progress has been made with the determination that lateral hypothalamic orexin (OXA) neurons ...
  • Circadian Disruptions in the Myshkin Mouse Model of Mania Are Independent of Deficits in Suprachiasmatic Molecular Clock Function. 

    Timothy, JWS; Klas, N; Sanghani, HR; Al-Mansouri, T; Hughes, ATL; Kirshenbaum, GS; Brienza, V; Belle, MDC; Ralph, MR; Clapcote, SJ; Piggins, HD (Elsevier, 2017-05-20)
    BACKGROUND: Alterations in environmental light and intrinsic circadian function have strong associations with mood disorders. The neural origins underpinning these changes remain unclear, although genetic deficits in the ...
  • CD38 is Required for Dendritic Organization in Visual Cortex and Hippocampus. 

    Nelissen, TP; Bamford, RA; Tochitani, S; Akkus, K; Kudzinskas, A; Yokoi, K; Okamoto, H; Yamamoto, Y; Burbach, JPH; Matsuzaki, H; Oguro-Ando, A (Elsevier, 2018-01-03)
    Morphological screening of mouse brains with known behavioral deficits can give great insight into the relationship between brain regions and their behavior. Oxytocin- and CD38-deficient mice have previously been shown to ...
  • When genomic medicine reveals misattributed genetic relationships – the debate about disclosure revisited 

    Wright, C; Parker, M; Lucassen, A (Nature Publishing Group, 2018)
    Purpose: Accidental discovery of misattributed parentage is an age-old problem in clinical medicine, but the ability to detect it routinely has increased recently as a result of highthroughput DNA sequencing technologies ...
  • The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data. 

    Köhler, S; Doelken, SC; Mungall, CJ; Bauer, S; Firth, HV; Bailleul-Forestier, I; Black, GCM; Brown, DL; Brudno, M; Campbell, J; FitzPatrick, DR; Eppig, JT; Jackson, AP; Freson, K; Girdea, M; Helbig, I; Hurst, JA; Jähn, J; Jackson, LG; Kelly, AM; Ledbetter, DH; Mansour, S; Martin, CL; Moss, C; Mumford, A; Ouwehand, WH; Park, S-M; Riggs, ER; Scott, RH; Sisodiya, S; Van Vooren, S; Wapner, RJ; Wilkie, AOM; Wright, CF; Vulto-van Silfhout, AT; de Leeuw, N; de Vries, BBA; Washingthon, NL; Smith, CL; Westerfield, M; Schofield, P; Ruef, BJ; Gkoutos, GV; Haendel, M; Smedley, D; Lewis, SE; Robinson, PN (Oxford University Press, 2013-11-11)
    The Human Phenotype Ontology (HPO) project, available at http://www.human-phenotype-ontology.org, provides a structured, comprehensive and well-defined set of 10,088 classes (terms) describing human phenotypic abnormalities ...
  • Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders. 

    Evers, JMG; Laskowski, RA; Bertolli, M; Clayton-Smith, J; Deshpande, C; Eason, J; Elmslie, F; Flinter, F; Gardiner, C; Hurst, JA; Kingston, H; Kini, U; Lampe, AK; Lim, D; Male, A; Naik, S; Parker, MJ; Price, S; Robert, L; Sarkar, A; Straub, V; Woods, G; Thornton, JM; DDD Study; Wright, CF (Oxford University Press, 2017-01-04)
    Haploinsufficiency in DYRK1A is associated with a recognizable developmental syndrome, though the mechanism of action of pathogenic missense mutations is currently unclear. Here we present 19 de novo mutations in this gene, ...
  • Protein structure and phenotypic analysis of pathogenic and population missense variants inSTXBP1. 

    Suri, M; Evers, JMG; Laskowski, RA; O'Brien, S; Baker, K; Clayton-Smith, J; Dabir, T; Josifova, D; Joss, S; Kerr, B; Kraus, A; McEntagart, M; Morton, J; Smith, A; Splitt, M; Thornton, JM; DDD Study; Wright, CF (Wiley Open Access, 2017-06-20)
    BACKGROUND: Syntaxin-binding protein 1, encoded bySTXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane. Studies have shown that pathogenic loss-of-function variants in ...
  • Returning genome sequences to research participants: Policy and practice. 

    Wright, CF; Middleton, A; Barrett, JC; Firth, HV; FitzPatrick, DR; Hurles, ME; Parker, M (F1000Research, 2017-02-24)
    Despite advances in genomic science stimulating an explosion of literature around returning health-related findings, the possibility of returning entire genome sequences to individual research participants has not been ...
  • The development and evaluation of an audit tool for measuring reporting accuracy of radiographers compared with radiologists for intra-luminal pathology detected at computed tomography colonography (CTC) 

    Rimes, SJ; Fox, D; Knapp, KM; Meertens, R (Elsevier, 2015-04-16)
    Objective: To design and test an audit tool to measure the reporting accuracy of radiographers using radiologist reports as the gold standard. Design: A database was designed to capture radiographer and radiologist report ...
  • An experimental investigation of a novel iron chelating protoporphyrin IX prodrug for the enhancement of photodynamic therapy (article) 

    Anayo, L; Magnussen, A; Perry, A; Wood, M; Curnow, A (Wiley, 2018-03-31)
    Objectives: Non-melanoma skin cancers are the most frequently occurring type of cancer worldwide. They can be effectively treated using topical dermatological photodynamic therapy (PDT) employing protoporphyrin IX (PpIX) ...
  • Ischaemic stroke, haemorrhage, and mortality in older patients with chronic kidney disease newly started on anticoagulation for atrial fibrillation: a population based study from UK primary care 

    Shankar, K; de Lusignan, S; McGovern, A; Correa, A; Hriskova, M; Gatenby, P; Jones, S; Goldsmith, D; Camm, A John (BMJ Publishing Group, 2018-02-14)
    OBJECTIVE To assess the association between anticoagulation, ischaemic stroke, gastrointestinal and cerebral haemorrhage, and all cause mortality in older people with atrial fibrillation and chronic kidney disease. ...
  • Stress and Unusual Events Exacerbate Symptoms in Menière's Disease: A Longitudinal Study. 

    Yeo, NL; White, MP; Ronan, N; Whinney, DJ; Curnow, A; Tyrrell, J (Lippincott, Williams & Wilkins, 2017-10-23)
    HYPOTHESIS: Stress and unusual events are associated with a higher likelihood of attacks and increased symptom severity in Menière's disease (MD). BACKGROUND: MD is an unpredictable condition which severely impacts the ...
  • Rodents and humans are able to detect the odour of L-Lactate. 

    Mosienko, V; Chang, AJ; Alenina, N; Teschemacher, AG; Kasparov, S (Public Library of Science, 2017-05-25)
    L-Lactate (LL) is an essential cellular metabolite which can be used to generate energy. In addition, accumulating evidence suggests that LL is used for inter-cellular signalling. Some LL-sensitive receptors have been ...
  • A Review on Bone Mineral Density Loss in Total Knee Replacements Leading to Increased Fracture Risk 

    Gundry, M; Hopkins, S; Knapp, K (Humana Press, 2017-10-27)
    The link between low bone mineral density (BMD) scores leading to greater fracture risk is well established in the literature; what is not fully understood is the impact of total knee replacements/revisions or arthroplasties ...
  • Blood Pressure Trajectories in the 20 Years Before Death. 

    Delgado, J; Bowman, K; Ble, A; Masoli, J; Han, Y; Henley, W; Welsh, S; Kuchel, GA; Ferrucci, L; Melzer, D (American Medical Association, 2017-12-04)
    Importance: There is mixed evidence that blood pressure (BP) stabilizes or decreases in later life. It is also unclear whether BP trajectories reflect advancing age, proximity to end of life, or selective survival of persons ...
  • Outcomes of Treated Hypertension at Age 80 and Older: Cohort Analysis of 79,376 Individuals 

    Delgado, J; Masoli, JAH; Bowman, K; Strain, WD; Kuchel, G; Walters, K; Lafortune, L; Brayne, C; Melzer, D; Ble, A (Wiley for American Geriatrics Society, 2016-12-30)
    OBJECTIVES: To estimate outcomes according to attained blood pressure (BP) in the oldest adults treated for hypertension in routine family practice. DESIGN: Cohort analysis of primary care inpatient and death certificate ...

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