Search Results - Michael N. Weedon

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  1. 1
    Exploring the application of deep learning methods for polygenic risk score estimation

    Exploring the application of deep learning methods for polygenic risk score estimation by Steven Squires, Michael N. Weedon, Richard A. Oram

    Published 2025
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  2. 2
    Epigenetic regulation of mitochondrial function in neurodegenerative disease: New insights from advances in genomic technologies

    Epigenetic regulation of mitochondrial function in neurodegenerative disease: New insights from advances in genomic technologies by Matthew Devall, Janou A. Y. Roubroeks, Jonathan Mill, Michael N. Weedon, Katie Lunnon

    Published 2016
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  3. 3
    Pleiotropic Effects of Trait-Associated Genetic Variation on DNA Methylation: Utility for Refining GWAS Loci

    Pleiotropic Effects of Trait-Associated Genetic Variation on DNA Methylation: Utility for Refining GWAS Loci by Eilís Hannon, Michael N. Weedon, Nicholas J. Bray, Michael O’Donovan, Jonathan Mill

    Published 2017
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  4. 4
    Genetic modifiers of rare variants in monogenic developmental disorder loci

    Genetic modifiers of rare variants in monogenic developmental disorder loci by Rebecca Kingdom, Robin N. Beaumont, Andrew R. Wood, Michael N. Weedon, Caroline F. Wright

    Published 2024
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  5. 5
    Events in Early Life are Associated with Female Reproductive Ageing: A UK Biobank Study

    Events in Early Life are Associated with Female Reproductive Ageing: A UK Biobank Study by Katherine S. Ruth, John R. B. Perry, William Henley, David Melzer, Michael N. Weedon, Anna Murray

    Published 2016
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  6. 6
    Frequency and phenotype of type 1 diabetes in the first six decades of life: a cross-sectional, genetically stratified survival analysis from UK Biobank

    Frequency and phenotype of type 1 diabetes in the first six decades of life: a cross-sectional, genetically stratified survival analysis from UK Biobank by Nicholas J. Thomas, Samuel E. Jones, Michael N. Weedon, Beverley M. Shields, Richard A. Oram, Andrew T. Hattersley

    Published 2017
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  7. 7
    Interrogating Type 2 Diabetes Genome-Wide Association Data Using a Biological Pathway-Based Approach

    Interrogating Type 2 Diabetes Genome-Wide Association Data Using a Biological Pathway-Based Approach by John R. B. Perry, Mark I. McCarthy, Andrew T. Hattersley, Eleftheria Zeggini, Michael N. Weedon, Timothy M. Frayling

    Published 2009
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  8. 8
    New quality measure for SNP array based CNV detection

    New quality measure for SNP array based CNV detection by Aurélien Macé, Marcus A. Tuke, J. Beckmann, Liya Lin, Sébastien Jacquemont, Michael N. Weedon, Alexandre Reymond, Zoltán Kutalik

    Published 2016
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  9. 9
    Utility of genetic risk scores in type 1 diabetes

    Utility of genetic risk scores in type 1 diabetes by Amber M. Luckett, Michael N. Weedon, Gareth Hawkes, Richard David Leslie, Richard A. Oram, Struan F.A. Grant

    Published 2023
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  10. 10
    No Evidence of Association of <i>ENPP1</i> Variants With Type 2 Diabetes or Obesity in a Study of 8,089 U.K. Caucasians

    No Evidence of Association of <i>ENPP1</i> Variants With Type 2 Diabetes or Obesity in a Study of 8,089 U.K. Caucasians by Michael N. Weedon, Beverley M. Shields, G. A. Hitman, Mark Walker, Mark I. McCarthy, Andrew T. Hattersley, Timothy M. Frayling

    Published 2006
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  11. 11
    The clinical consequences of heterogeneity within and between different diabetes types

    The clinical consequences of heterogeneity within and between different diabetes types by María J. Redondo, William Hagopian, Richard A. Oram, Andrea K. Steck, Kendra Vehik, Michael N. Weedon, Ashok Balasubramanyam, Dana Dabelea

    Published 2020
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  12. 12
    Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population

    Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population by Rebecca Kingdom, Marcus A. Tuke, Andrew R. Wood, Robin N. Beaumont, Timothy M. Frayling, Michael N. Weedon, Caroline F. Wright

    Published 2022
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  13. 13
    Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for<i>DYNC1I1</i>exonic enhancers of<i>DLX5/6</i>expression in humans

    Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for<i>DYNC1I1</i>exonic enhancers of<i>DLX5/6</i>expr... by Hana Lango Allen, Richard Caswell, Weijia Xie, Xu Xiao, Christopher Wragg, Peter D. Turnpenny, Claire Turner, Michael N. Weedon, Sian Ellard

    Published 2014
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  14. 14
    Pitfalls of haplotype phasing from amplicon-based long-read sequencing

    Pitfalls of haplotype phasing from amplicon-based long-read sequencing by Thomas W. Laver, Richard Caswell, Karen Moore, Jérémie Poschmann, Matthew B. Johnson, Martina Owens, Sian Ellard, Konrad Paszkiewicz, Michael N. Weedon

    Published 2016
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  15. 15
    Prevalence of Fabry disease-causing variants in the UK Biobank

    Prevalence of Fabry disease-causing variants in the UK Biobank by Mark Gilchrist, Francesco Casanova, Jessica Tyrrell, Stuart Cannon, Andrew R. Wood, Nicole Fife, Katherine Young, Richard A. Oram, Michael N. Weedon

    Published 2022
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  16. 16
    Impact of blood flow restriction cuff design on upper body exercise: A randomized crossover trial in resistance‐trained adults

    Impact of blood flow restriction cuff design on upper body exercise: A randomized crossover trial in resistance‐trained adults by Nicholas Rolnick, Victor Sabino de Queiros, Brent Fedorko, Samantha Watson, Campbell Ruffhead, Sean Zupnik, Lucas Kuriawa, Michael N. Weedon, Tim Werner

    Published 2025
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  17. 17
    A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults

    A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults by Richard A. Oram, Kashyap Patel, Anita Hill, Beverley M. Shields, Timothy J. McDonald, Angus G. Jones, Andrew T. Hattersley, Michael N. Weedon

    Published 2015
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  18. 18
    Clinical Features and HLA Association of 5-Aminosalicylate (5-ASA)-induced Nephrotoxicity in Inflammatory Bowel Disease

    Clinical Features and HLA Association of 5-Aminosalicylate (5-ASA)-induced Nephrotoxicity in Inflammatory Bowel Disease by Graham Heap, Kenji So, Michael N. Weedon, Naomi Edney, Claire Bewshea, Abhey Singh, Vito Annese, John Beckly, D. J. Buurman, Rubina Chaudhary

    Published 2015
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  19. 19
    Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes

    Type 1 Diabetes Genetic Risk Score: A Novel Tool to Discriminate Monogenic and Type 1 Diabetes by Kashyap Patel, Richard A. Oram, Sarah E. Flanagan, Elisa De Franco, Kevin Colclough, Maggie Shepherd, Sian Ellard, Michael N. Weedon, Andrew T. Hattersley

    Published 2016
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  20. 20
    SavvyCNV: Genome-wide CNV calling from off-target reads

    SavvyCNV: Genome-wide CNV calling from off-target reads by Thomas W. Laver, Elisa De Franco, Matthew B. Johnson, Kashyap Patel, Sian Ellard, Michael N. Weedon, Sarah E. Flanagan, Matthew N. Wakeling

    Published 2022
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