Hasil Pencarian - Vincent Plagnol

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  1. 1
    Polygenic score development in the era of large-scale biobanks

    Polygenic score development in the era of large-scale biobanks oleh Vincent Plagnol

    Diterbitkan 2022-01-01
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  2. 2
    Possible ancestral structure in human populations.

    Possible ancestral structure in human populations. oleh Vincent Plagnol, Jeffrey D Wall

    Diterbitkan 2006-07-01
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  3. 3
    Regulation of otic neurosensory specification by Notch and Wnt signalling: insights from RNA-seq screenings in the embryonic chicken inner ear

    Regulation of otic neurosensory specification by Notch and Wnt signalling: insights from RNA-seq screenings in the embryonic chicken inner ear oleh Magdalena Żak, Thea P. Støle, Vincent Plagnol, Nicolas Daudet

    Diterbitkan 2023-10-01
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  4. 4
    A method to address differential bias in genotyping in large-scale association studies.

    A method to address differential bias in genotyping in large-scale association studies. oleh Vincent Plagnol, Jason D Cooper, John A Todd, David G Clayton

    Diterbitkan 2007-05-01
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  5. 5
    Quantitative analysis of cryptic splicing associated with TDP-43 depletion

    Quantitative analysis of cryptic splicing associated with TDP-43 depletion oleh Jack Humphrey, Warren Emmett, Pietro Fratta, Adrian M. Isaacs, Vincent Plagnol

    Diterbitkan 2017-05-01
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  6. 6
    A Comparison of Low Read Depth QuantSeq 3′ Sequencing to Total RNA-Seq in FUS Mutant Mice

    A Comparison of Low Read Depth QuantSeq 3′ Sequencing to Total RNA-Seq in FUS Mutant Mice oleh Seth Jarvis, Seth Jarvis, Nicol Birsa, Nicol Birsa, Maria Secrier, Pietro Fratta, Vincent Plagnol

    Diterbitkan 2020-11-01
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  7. 7
    Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses.

    Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses. oleh Vincent Plagnol, Elif Uz, Chris Wallace, Helen Stevens, David Clayton, Tayfun Ozcelik, John A Todd

    Diterbitkan 2008-08-01
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  8. 8
    Bayesian test for colocalisation between pairs of genetic association studies using summary statistics.

    Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. oleh Claudia Giambartolomei, Damjan Vukcevic, Eric E Schadt, Lude Franke, Aroon D Hingorani, Chris Wallace, Vincent Plagnol

    Diterbitkan 2014-05-01
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  9. 9
    Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

    Exome sequencing identifies MPL as a causative gene in familial aplastic anemia oleh Amanda J. Walne, Arran Dokal, Vincent Plagnol, Richard Beswick, Michael Kirwan, Josu de la Fuente, Tom Vulliamy, Inderjeet Dokal

    Diterbitkan 2012-04-01
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  10. 10
    Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration

    Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration oleh Sarah Mizielinska, Charlotte E. Ridler, Rubika Balendra, Annora Thoeng, Nathan S. Woodling, Friedrich A. Grässer, Vincent Plagnol, Tammaryn Lashley, Linda Partridge, Adrian M. Isaacs

    Diterbitkan 2017-04-01
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  11. 11
    A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes.

    A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes. oleh Manuela Zanda, Suna Onengut-Gumuscu, Neil Walker, Corina Shtir, Daniel Gallo, Chris Wallace, Deborah Smyth, John A Todd, Matthew E Hurles, Vincent Plagnol, Stephen S Rich

    Diterbitkan 2014-01-01
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  12. 12
    Genetic variants alter T-bet binding and gene expression in mucosal inflammatory disease.

    Genetic variants alter T-bet binding and gene expression in mucosal inflammatory disease. oleh Katrina Soderquest, Arnulf Hertweck, Claudia Giambartolomei, Stephen Henderson, Rami Mohamed, Rimma Goldberg, Esperanza Perucha, Lude Franke, Javier Herrero, Vincent Plagnol, Richard G Jenner, Graham M Lord

    Diterbitkan 2017-02-01
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  13. 13
    Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up.

    Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up. oleh Vanisha Mistry, Nicholas A Bockett, Adam P Levine, Muddassar M Mirza, Karen A Hunt, Paul J Ciclitira, Holger Hummerich, Susan L Neuhausen, Michael A Simpson, Vincent Plagnol, David A van Heel

    Diterbitkan 2015-01-01
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  14. 14
    Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

    Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection oleh Davide Eletto, Siobhan O. Burns, Ivan Angulo, Vincent Plagnol, Kimberly C. Gilmour, Frances Henriquez, James Curtis, Miguel Gaspar, Karolin Nowak, Vanessa Daza-Cajigal, Dinakantha Kumararatne, Rainer Doffinger, Adrian J. Thrasher, Sergey Nejentsev

    Diterbitkan 2016-12-01
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  15. 15
    A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome

    A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome oleh Elena G. Bochukova, Katherine Lawler, Sophie Croizier, Julia M. Keogh, Nisha Patel, Garth Strohbehn, Kitty K. Lo, Jack Humphrey, Anita Hokken-Koelega, Layla Damen, Stephany Donze, Sebastien G. Bouret, Vincent Plagnol, I. Sadaf Farooqi

    Diterbitkan 2018-03-01
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  16. 16
    Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.

    Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. oleh Vincent Plagnol, Joanna M M Howson, Deborah J Smyth, Neil Walker, Jason P Hafler, Chris Wallace, Helen Stevens, Laura Jackson, Matthew J Simmonds, Type 1 Diabetes Genetics Consortium, Polly J Bingley, Stephen C Gough, John A Todd

    Diterbitkan 2011-08-01
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  17. 17
    Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

    Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis oleh Amanda J. Walne, Laura Collopy, Shirleny Cardoso, Alicia Ellison, Vincent Plagnol, Canan Albayrak, Davut Albayrak, Sara Sebnem Kilic, Turkan Patıroglu, Haluk Akar, Keith Godfrey, Tina Carter, Makia Marafie, Ajay Vora, Mikael Sundin, Thomas Vulliamy, Hemanth Tummala, Inderjeet Dokal

    Diterbitkan 2016-10-01
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  18. 18
    Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

    Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa oleh João Farela Neves, João Farela Neves, Rainer Doffinger, Gabriela Barcena-Morales, Catarina Martins, Olivier Papapietro, Vincent Plagnol, James Curtis, Marta Martins, Dinakantha Kumararatne, Ana Isabel Cordeiro, Conceição Neves, Luis Miguel Borrego, Luis Miguel Borrego, Matilda Katan, Sergey Nejentsev, Sergey Nejentsev

    Diterbitkan 2018-12-01
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  19. 19
    The pattern of polymorphism in Arabidopsis thaliana.

    The pattern of polymorphism in Arabidopsis thaliana. oleh Magnus Nordborg, Tina T Hu, Yoko Ishino, Jinal Jhaveri, Christopher Toomajian, Honggang Zheng, Erica Bakker, Peter Calabrese, Jean Gladstone, Rana Goyal, Mattias Jakobsson, Sung Kim, Yuri Morozov, Badri Padhukasahasram, Vincent Plagnol, Noah A Rosenberg, Chitiksha Shah, Jeffrey D Wall, Jue Wang, Keyan Zhao, Theodore Kalbfleisch, Vincent Schulz, Martin Kreitman, Joy Bergelson

    Diterbitkan 2005-07-01
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  20. 20
    Analytical validation of a next generation sequencing liquid biopsy assay for high sensitivity broad molecular profiling.

    Analytical validation of a next generation sequencing liquid biopsy assay for high sensitivity broad molecular profiling. oleh Vincent Plagnol, Samuel Woodhouse, Karen Howarth, Stefanie Lensing, Matt Smith, Michael Epstein, Mikidache Madi, Sarah Smalley, Catherine Leroy, Jonathan Hinton, Frank de Kievit, Esther Musgrave-Brown, Colin Herd, Katherine Baker-Neblett, Will Brennan, Peter Dimitrov, Nathan Campbell, Clive Morris, Nitzan Rosenfeld, James Clark, Davina Gale, Jamie Platt, John Calaway, Greg Jones, Tim Forshew

    Diterbitkan 2018-01-01
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