檢索結果 - Yuval Itan

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  1. 1
    Biological Network Approaches and Applications in Rare Disease Studies

    Biological Network Approaches and Applications in Rare Disease Studies 由 Peng Zhang, Yuval Itan

    出版 2019
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  2. 2
    Novel Primary Immunodeficiency Candidate Genes Predicted by the Human Gene Connectome

    Novel Primary Immunodeficiency Candidate Genes Predicted by the Human Gene Connectome 由 Yuval Itan, Jean‐Laurent Casanova

    出版 2015
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  3. 3
    The Origins of Lactase Persistence in Europe

    The Origins of Lactase Persistence in Europe 由 Yuval Itan, Adam Powell, Mark Beaumont, Joachim Bürger, Mark Thomas

    出版 2009
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  4. 4
    A worldwide correlation of lactase persistence phenotype and genotypes

    A worldwide correlation of lactase persistence phenotype and genotypes 由 Yuval Itan, Bryony Jones, C Ingram, Dallas M. Swallow, Mark Thomas

    出版 2010
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  5. 5
    De novo variants in exomes of congenital heart disease patients identify risk genes and pathways

    De novo variants in exomes of congenital heart disease patients identify risk genes and pathways 由 Çiğdem Sevim Bayrak, Peng Zhang, Martin Tristani‐Firouzi, Bruce D. Gelb, Yuval Itan

    出版 2020
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  6. 6
    Evolution of lactase persistence: an example of human niche construction

    Evolution of lactase persistence: an example of human niche construction 由 Pascale Gerbault, Anke Liebert, Yuval Itan, Adam Powell, Mathias Currat, Joachim Bürger, Dallas M. Swallow, Mark Thomas

    出版 2011
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  7. 7
    Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency

    Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency 由 Patrick Maffucci, Charles A. Filion, Bertrand Boisson, Yuval Itan, Lei Shang, Jean‐Laurent Casanova, Charlotte Cunningham‐Rundles

    出版 2016
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  8. 8
    The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity

    The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity 由 Meltem Ece Kars, Yiming Wu, Peter D. Stenson, D.N. Cooper, Johan Burisch, Inga Peter, Yuval Itan

    出版 2024
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  9. 9
    Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes

    Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes 由 Matthieu Deschamps, Guillaume Laval, Maud Fagny, Yuval Itan, Laurent Abel, Jean‐Laurent Casanova, Étienne Patin, Lluís Quintana‐Murci

    出版 2016
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  10. 10
    PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

    PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations 由 Peng Zhang, Benedetta Bigio, Franck Rapaport, Shen‐Ying Zhang, Jean‐Laurent Casanova, Laurent Abel, Bertrand Boisson, Yuval Itan

    出版 2018
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  11. 11
    Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set

    Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set 由 David Stein, Meltem Ece Kars, Yiming Wu, Çiğdem Sevim Bayrak, Peter D. Stenson, D.N. Cooper, Avner Schlessinger, Yuval Itan

    出版 2023
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  12. 12
    Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

    Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants 由 Aziz Belkadi, Alexandre Bolze, Yuval Itan, Aurélie Cobat, Quentin B. Vincent, Alexander Antipenko, Lei Shang, Bertrand Boisson, Jean‐Laurent Casanova, Laurent Abel

    出版 2015
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  13. 13
    The human gene connectome as a map of short cuts for morbid allele discovery

    The human gene connectome as a map of short cuts for morbid allele discovery 由 Yuval Itan, Shen‐Ying Zhang, Guillaume Vogt, Avinash Abhyankar, Melina Herman, Patrick Nitschké, Dror Fried, Lluís Quintana‐Murci, Laurent Abel, Jean‐Laurent Casanova

    出版 2013
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  14. 14
    HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

    HGCS: an online tool for prioritizing disease-causing gene variants by biological distance 由 Yuval Itan, Mark Mazel, Benjamin Mazel, Avinash Abhyankar, Patrick Nitschké, Lluı́s Quintana-Murci, Stéphanie Boisson‐Dupuis, Bertrand Boisson, Laurent Abel, Shen‐Ying Zhang, Jean‐Laurent Casanova

    出版 2014
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  15. 15
    Evolutionary genetic dissection of human interferons

    Evolutionary genetic dissection of human interferons 由 Jérémy Manry, Guillaume Laval, Étienne Patin, Simona Fornarino, Yuval Itan, Matteo Fumagalli, Manuela Sironi, Magali Tichit, Christiane Bouchier, Jean‐Laurent Casanova, Luis B. Barreiro, Lluı́s Quintana-Murci

    出版 2011
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  16. 16
    Exome and genome sequencing for inborn errors of immunity

    Exome and genome sequencing for inborn errors of immunity 由 Isabelle Meyts, Barbara Bosch, Alexandre Bolze, Bertrand Boisson, Yuval Itan, Aziz Belkadi, Vincent Pedergnana, Leen Moens, Capucine Pïcard, Aurélie Cobat, Xavier Bossuyt, Laurent Abel, Jean‐Laurent Casanova

    出版 2016
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  17. 17
    Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort

    Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort 由 Laire Schidlowski, Fernando Liebert, Pérola Grupenmacher Iankilevich, Priscila Regina Orso Rebellato, Rafaela Andrade Rocha, Nadia Aparecida Pereira Almeida, Aayushee Jain, Yiming Wu, Yuval Itan, Roberto Rosati, Carolina Prando

    出版 2020
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  18. 18
    Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

    Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery 由 Eric Scott, Anason Halees, Yuval Itan, Emily Spencer, Yupeng He, Mostafa Abdellateef Azab, Stacey Gabriel, Aziz Belkadi, Bertrand Boisson, Laurent Abel, Andrew G. Clark, Fowzan S. Alkuraya, Jean‐Laurent Casanova, Joseph G. Gleeson

    出版 2016
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  19. 19
    Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants

    Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants 由 Çiğdem Sevim Bayrak, David Stein, Aayushee Jain, Kumardeep Chaudhary, Girish N. Nadkarni, Tielman Van Vleck, Anne Puel, Stéphanie Boisson‐Dupuis, Satoshi Okada, Peter D. Stenson, D.N. Cooper, Avner Schlessinger, Yuval Itan

    出版 2021
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  20. 20
    Herders of Indian and European Cattle Share Their Predominant Allele for Lactase Persistence

    Herders of Indian and European Cattle Share Their Predominant Allele for Lactase Persistence 由 Irene Gallego Romero, Chandana Basu Mallick, Anke Liebert, Federica Crivellaro, Gyaneshwer Chaubey, Yuval Itan, Mait Metspalu, Muthukrishnan Eaaswarkhanth, Ramasamy Pitchappan, Richard Villems, David Reich, Lalji Singh, Kumarasamy Thangaraj, Mark Thomas, Dallas M. Swallow, Marta Mìrazón Lahr, Toomas Kivisild

    出版 2011
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