Showing 1 - 20 results of 23 for search 'Emmanuelle Genin', query time: 0.06s Refine Results
  1. 1
    In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis.

    In silico search for modifier genes associated with pancreatic and liver disease in Cystic Fibrosis. by Pascal Trouvé, Emmanuelle Génin, Claude Férec

    Published 2017-01-01
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  2. 2
    The Interplay between the Unfolded Protein Response, Inflammation and Infection in Cystic Fibrosis

    The Interplay between the Unfolded Protein Response, Inflammation and Infection in Cystic Fibrosis by Pascal Trouvé, Claude Férec, Emmanuelle Génin

    Published 2021-11-01
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  3. 3
    Opening the Black Box of Imputation Software to Study the Impact of Reference Panel Composition on Performance

    Opening the Black Box of Imputation Software to Study the Impact of Reference Panel Composition on Performance by Thibault Dekeyser, Emmanuelle Génin, Anthony F. Herzig

    Published 2023-02-01
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  4. 4
    The False Dawn of Polygenic Risk Scores for Human Disease Prediction

    The False Dawn of Polygenic Risk Scores for Human Disease Prediction by Anthony F. Herzig, Françoise Clerget-Darpoux, Emmanuelle Génin

    Published 2022-07-01
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  5. 5
    Advantage of using allele-specific copy numbers when testing for association in regions with common copy number variants.

    Advantage of using allele-specific copy numbers when testing for association in regions with common copy number variants. by Gaëlle Marenne, Stephen J Chanock, Núria Malats, Emmanuelle Génin

    Published 2013-01-01
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  6. 6
    Poor survival in rheumatoid arthritis associated with bronchiectasis: a family-based cohort study.

    Poor survival in rheumatoid arthritis associated with bronchiectasis: a family-based cohort study. by Xavier Puéchal, Emmanuelle Génin, Thierry Bienvenu, Claire Le Jeunne, Daniel J Dusser

    Published 2014-01-01
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  7. 7
    Rare and low frequency variant stratification in the UK population: description and impact on association tests.

    Rare and low frequency variant stratification in the UK population: description and impact on association tests. by Marie-Claude Babron, Marie de Tayrac, Douglas N Rutledge, Eleftheria Zeggini, Emmanuelle Génin

    Published 2012-01-01
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  8. 8
    <i>CFTR</i> Cooperative <i>Cis</i>-Regulatory Elements in Intestinal Cells

    <i>CFTR</i> Cooperative <i>Cis</i>-Regulatory Elements in Intestinal Cells by Mégane Collobert, Ozvan Bocher, Anaïs Le Nabec, Emmanuelle Génin, Claude Férec, Stéphanie Moisan

    Published 2021-03-01
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  9. 9
    Chronic Pancreatitis: The True Pathogenic Culprit within the <i>SPINK1</i> N34S-Containing Haplotype Is No Longer at Large

    Chronic Pancreatitis: The True Pathogenic Culprit within the <i>SPINK1</i> N34S-Containing Haplotype Is No Longer at Large by Na Pu, Emmanuelle Masson, David N. Cooper, Emmanuelle Génin, Claude Férec, Jian-Min Chen

    Published 2021-10-01
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  10. 10
    Role of the Common <i>PRSS1-PRSS2</i> Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses

    Role of the Common <i>PRSS1-PRSS2</i> Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses by Anthony F. Herzig, Emmanuelle Génin, David N. Cooper, Emmanuelle Masson, Claude Férec, Jian-Min Chen

    Published 2020-11-01
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  11. 11
    Positive selection in the chromosome 16 VKORC1 genomic region has contributed to the variability of anticoagulant response in humans.

    Positive selection in the chromosome 16 VKORC1 genomic region has contributed to the variability of anticoagulant response in humans. by Blandine Patillon, Pierre Luisi, Hélène Blanché, Etienne Patin, Howard M Cann, Emmanuelle Génin, Audrey Sabbagh

    Published 2012-01-01
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  12. 12
    Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review

    Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review by Jian-Min Chen, Anthony F. Herzig, Emmanuelle Génin, Emmanuelle Masson, David N. Cooper, Claude Férec

    Published 2021-03-01
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  13. 13
    Molecular reclassification of Crohn's disease: a cautionary note on population stratification.

    Molecular reclassification of Crohn's disease: a cautionary note on population stratification. by Bärbel Maus, Camille Jung, Jestinah M Mahachie John, Jean-Pierre Hugot, Emmanuelle Génin, Kristel Van Steen

    Published 2013-01-01
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  14. 14
    Sensitive Skin: Lessons From Transcriptomic Studies

    Sensitive Skin: Lessons From Transcriptomic Studies by Adeline Bataille, Adeline Bataille, Christelle Le Gall-Ianotto, Christelle Le Gall-Ianotto, Emmanuelle Genin, Laurent Misery, Laurent Misery

    Published 2019-05-01
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  15. 15
    How local reference panels improve imputation in French populations

    How local reference panels improve imputation in French populations by Anthony F. Herzig, Lourdes Velo‐Suárez, The FrEx Consortium, The FranceGenRef Consortium, Christian Dina, Richard Redon, Jean-François Deleuze, Emmanuelle Génin

    Published 2024-01-01
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  16. 16
    Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression

    Blood transcriptomic biomarker as a surrogate of ischemic brain gene expression by LeeAnn Ramsay, Marie‐Lise Quillé, Cyrille Orset, Pierre de laGrange, Estelle Rousselet, Claude Férec, Gérald Le Gac, Emmanuelle Génin, Serge Timsit

    Published 2019-09-01
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  17. 17
    Expanding ACMG variant classification guidelines into a general framework

    Expanding ACMG variant classification guidelines into a general framework by Emmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, David N. Cooper, Gerald Le Gac, Yann Fichou, Na Pu, Vinciane Rebours, Claude Férec, Zhuan Liao, Jian-Min Chen

    Published 2022-08-01
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  18. 18
    Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.

    Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score. by Ozvan Bocher, Thomas E Ludwig, Marie-Sophie Oglobinsky, Gaëlle Marenne, Jean-François Deleuze, Suryakant Suryakant, Jacob Odeberg, Pierre-Emmanuel Morange, David-Alexandre Trégouët, Hervé Perdry, Emmanuelle Génin

    Published 2022-09-01
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  19. 19
    Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse.

    Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse. by Brooke Tata, Lukas Huijbregts, Sandrine Jacquier, Zsolt Csaba, Emmanuelle Genin, Vincent Meyer, Sofia Leka, Joelle Dupont, Perrine Charles, Didier Chevenne, Jean-Claude Carel, Juliane Léger, Nicolas de Roux

    Published 2014-09-01
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  20. 20
    Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants

    Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants by Hao Wu, Jin-Huan Lin, Xin-Ying Tang, Gaëlle Marenne, Wen-Bin Zou, Sacha Schutz, Emmanuelle Masson, Emmanuelle Génin, Yann Fichou, Gerald Le Gac, Claude Férec, Zhuan Liao, Jian-Min Chen

    Published 2024-02-01
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