Výsledky vyhledávání - Jenny C. Taylor

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  1. 1
    GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data

    GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data Autor Edoardo Giacopuzzi, Niko Popitsch, Jenny C. Taylor

    Vydáno 2022
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  2. 2
    Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

    Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature Autor Katharina Schwarze, James Buchanan, Jenny C. Taylor, Sarah Wordsworth

    Vydáno 2018
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  3. 3
    Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review

    Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review Autor Padraig Dixon, Edna Keeney, Jenny C. Taylor, Sarah Wordsworth, Richard M. Martin

    Vydáno 2022
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  4. 4
    Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation

    Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation Autor Dagan Wells, Kulvinder Kaur, J. Grifo, M.J. Glassner, Jenny C. Taylor, E. Fragouli, S. Munné

    Vydáno 2014
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  5. 5
    PDK-1 regulates lactate production in hypoxia and is associated with poor prognosis in head and neck squamous cancer

    PDK-1 regulates lactate production in hypoxia and is associated with poor prognosis in head and neck squamous cancer Autor Simon Wigfield, Stuart C. Winter, Alexandra Giatromanolaki, Jenny C. Taylor, M L Koukourakis, Adrian L. Harris

    Vydáno 2008
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  6. 6
    DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model

    DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model Autor Sarah Wordsworth, José Leal, E Blair, Rosa Legood, Kate Thomson, A Seller, Jenny C. Taylor, Hugh Watkins

    Vydáno 2010
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  7. 7
    “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project

    “Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and th... Autor Elizabeth Ormondroyd, Michael P. Mackley, Edward Blair, Judith Craft, Julian C. Knight, Jenny C. Taylor, John Taylor, Hugh Watkins

    Vydáno 2017
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  8. 8
    The multidrug resistance P-glycoprotein modulates cell regulatory volume decrease.

    The multidrug resistance P-glycoprotein modulates cell regulatory volume decrease. Autor Miguel A. Valverde, Tamara D. Bond, Simon P. Hardy, Jenny C. Taylor, C. F. Higgins, Julio Altamirano, Francisco J. Alvarez‐Leefmans

    Vydáno 1996
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  9. 9
    Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels

    Human Slack Potassium Channel Mutations Increase Positive Cooperativity between Individual Channels Autor Grace Kim, Jack Kronengold, Giulia Barcia, Imran H. Quraishi, Hilary C. Martin, Edward Blair, Jenny C. Taylor, Olivier Dulac, Laurence Colleaux, Rima Nabbout, Leonard K. Kaczmarek

    Vydáno 2014
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  10. 10
    Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

    Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations Autor Carlos Camps, Nayia Petousi, Celeste Bento, Holger Cario, Richard R. Copley, Mary Frances McMullin, Richard van Wijk, Peter J. Ratcliffe, Peter A. Robbins, Jenny C. Taylor

    Vydáno 2016
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  11. 11
    A<i>de novo</i>frameshift in<i>HNRNPK</i>causing a Kabuki-like syndrome with nodular heterotopia

    A<i>de novo</i>frameshift in<i>HNRNPK</i>causing a Kabuki-like syndrome with nodular heterotopia Autor Leslie A. Lange, A. T. Pagnamenta, Stefano Lise, Steven Clasper, Helen Stewart, Elham Sadighi Akha, Gerardine Quaghebeur, Samantha J.L. Knight, David A. Keays, Jenny C. Taylor, Usha Kini

    Vydáno 2016
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  12. 12
    Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

    Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis Autor Alistair T. Pagnamenta, Malcolm F. Howard, Éva Wisniewski, Niko Popitsch, Samantha J.L. Knight, David A. Keays, Gerardine Quaghebeur, Helen Cox, P. Cox, Tamás Balla, Jenny C. Taylor, Usha Kini

    Vydáno 2015
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  13. 13
    Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

    Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2) Autor Siân E. Piret, Caroline M. Gorvin, Alistair T. Pagnamenta, Sarah Howles, Treena Cranston, Nigel Rust, M. Andrew Nesbit, Ben Glaser, Jenny C. Taylor, Andreas Buchs, Fadil Hannan, Rajesh V. Thakker

    Vydáno 2016
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  14. 14
    DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer

    DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer Autor David N. Church, Sarah Briggs, Claire Palles, Enric Domingo, Stephen Kearsey, Jonathan M. Grimes, Maggie Gorman, Lynn Martin, Kimberley Howarth, Shirley V. Hodgson, Kulvinder Kaur, Jenny C. Taylor, Ian Tomlinson

    Vydáno 2013
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  15. 15
    Metabolic Modulator Perhexiline Corrects Energy Deficiency and Improves Exercise Capacity in Symptomatic Hypertrophic Cardiomyopathy

    Metabolic Modulator Perhexiline Corrects Energy Deficiency and Improves Exercise Capacity in Symptomatic Hypertrophic Cardiomyopathy Autor Khalid Abozguia, Perry Elliott, William J. McKenna, Thanh Trung Phan, Ganesh Nallur-Shivu, Irfan Ahmed, Abdul Maher, Kulvinder Kaur, Jenny C. Taylor, A Henning, Houman Ashrafian, Hugh Watkins, Michael Frenneaux

    Vydáno 2010
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  16. 16
    Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1

    Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1 Autor Emma Jaeger, Simon J. Leedham, Annabelle Lewis, Stefania Segditsas, Martin Becker, Pedro Rodenas Cuadrado, Hayley L. Belnoue-Davis, Kulvinder Kaur, Karl Heinimann, Kimberley Howarth, James E. East, Jenny C. Taylor, Huw Thomas, Ian Tomlinson

    Vydáno 2012
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  17. 17
    Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies

    Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies Autor Alistair T. Pagnamenta, Stefano Lise, Victoria Harrison, Helen Stewart, Sandeep Jayawant, Gerardine Quaghebeur, Alexander T. Deng, V. Murphy, Elham Sadighi Akha, Andy Rimmer, Iain Mathieson, Samantha J.L. Knight, Usha Kini, Jenny C. Taylor, David A. Keays

    Vydáno 2011
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  18. 18
    Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia

    Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia Autor Samantha J.L. Knight, Christopher Yau, Ruth Clifford, Adele Timbs, Elham Sadighi Akha, Hélène Dreau, Adam Burns, Cristian Ciria, David Oscier, Andrew R. Pettitt, Susan Dutton, Chris Holmes, Jenny C. Taylor, Jean‐Baptiste Cazier, Anna Schuh

    Vydáno 2012
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  19. 19
    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples Autor Roddy Walsh, Kate Thomson, James S. Ware, Birgit Funke, Jessica Woodley, Karen McGuire, Francesco Mazzarotto, Edward Blair, A Seller, Jenny C. Taylor, Eric Vallabh Minikel, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook, Hugh Watkins

    Vydáno 2016
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  20. 20
    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

    Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples Autor Roddy Walsh, Kate Thomson, James S. Ware, Birgit Funke, Jessica Woodley, Karen McGuire, Francesco Mazzarotto, Edward Blair, A Seller, Jenny C. Taylor, Eric Vallabh Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook, Hugh Watkins

    Vydáno 2016
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