Результаты поиска - Christian R. Marshall

Отмена результатов
  1. 1
    Structural variants: changing the landscape of chromosomes and design of disease studies

    Structural variants: changing the landscape of chromosomes and design of disease studies по Lars Feuk, Christian R. Marshall, Richard F. Wintle, Stephen W. Scherer

    Опубликовано 2006
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  2. 2
    Genome sequencing as a diagnostic test

    Genome sequencing as a diagnostic test по Gregory Costain, Ronald D. Cohn, Stephen W. Scherer, Christian R. Marshall

    Опубликовано 2021
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    Artigo
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  3. 3
    Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

    Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome по Anne S. Bassett, Christian R. Marshall, Anath C. Lionel, Eva W.C. Chow, Stephen W. Scherer

    Опубликовано 2008
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    Artigo
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  4. 4
    1q21.1 Microduplication expression in adults

    1q21.1 Microduplication expression in adults по Alessia Dolcetti, Candice K. Silversides, Christian R. Marshall, Anath C. Lionel, Dimitri J. Stavropoulos, Stephen W. Scherer, Anne S. Bassett

    Опубликовано 2012
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  5. 5
    Copy Number Variable MicroRNAs in Schizophrenia and Their Neurodevelopmental Gene Targets

    Copy Number Variable MicroRNAs in Schizophrenia and Their Neurodevelopmental Gene Targets по W. David Warnica, Daniele Merico, Gregory Costain, Simon E. Alfred, John Wei, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett

    Опубликовано 2014
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    Artigo
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  6. 6
    Excessive genomic DNA copy number variation in the Li–Fraumeni cancer predisposition syndrome

    Excessive genomic DNA copy number variation in the Li–Fraumeni cancer predisposition syndrome по Adam Shlien, Uri Tabori, Christian R. Marshall, Małgorzata Pieńkowska, Lars Feuk, Ana Novokmet, Sonia Nanda, Harriet Druker, Stephen W. Scherer, David Malkin

    Опубликовано 2008
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  7. 7
    Complex Copy Number Variation of <i>AMY1</i> does not Associate with Obesity in two East Asian Cohorts

    Complex Copy Number Variation of <i>AMY1</i> does not Associate with Obesity in two East Asian Cohorts по Rita Y.Y. Yong, Su'Aidah Binte Mustaffa, Pavandip Singh Wasan, Sheng Liang, Christian R. Marshall, Stephen W. Scherer, Yik‐Ying Teo, P. H. Yap

    Опубликовано 2016
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  8. 8
    Contribution of SHANK3 Mutations to Autism Spectrum Disorder

    Contribution of SHANK3 Mutations to Autism Spectrum Disorder по Rainald Moessner, Christian R. Marshall, James S. Sutcliffe, Jennifer Skaug, Dalila Pinto, John B. Vincent, Lonnie Zwaigenbaum, Bridget A. Fernandez, Wendy Roberts, Peter Szatmari, Stephen W. Scherer

    Опубликовано 2007
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    Artigo
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  9. 9
    15q11.2 Duplication Encompassing Only the<i>UBE3A</i>Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes

    15q11.2 Duplication Encompassing Only the<i>UBE3A</i>Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes по Abdul Noor, Lucie Dupuis, Kirti Mittal, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Tracy Stockley, John B. Vincent, Roberto Mendoza‐Londono, Dimitri J. Stavropoulos

    Опубликовано 2015
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  10. 10
    Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing

    Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing по Theodora U. J. Bruun, Caro-Lyne DesRoches, Diane Wilson, Vann Chau, Tadashi Nakagawa, Masahiro Yamasaki, Shinya Hasegawa, Toshiyuki Fukao, Christian R. Marshall, Saadet Mercimek‐Andrews

    Опубликовано 2017
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    Artigo
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  11. 11
    The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

    The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic по Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan A. Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi L. Rehm

    Опубликовано 2020
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    Artigo
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  12. 12
    Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism

    Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism по Hyun Ji Noh, Chris P. Ponting, Hannah Boulding, Stephen Meader, Catalina Betancur, Joseph D. Buxbaum, Dalila Pinto, Christian R. Marshall, Anath C. Lionel, Stephen W. Scherer, Caleb Webber

    Опубликовано 2013
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  13. 13
    Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

    Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways по Candice K. Silversides, Anath C. Lionel, Gregory Costain, Daniele Merico, Ohsuke Migita, Ben Liu, Tracy J. Yuen, Jessica Rickaby, Bhooma Thiruvahindrapuram, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett

    Опубликовано 2012
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  14. 14
    A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder

    A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder по Kate Tsiplova, Richard M. Zur, Christian R. Marshall, Dimitri J. Stavropoulos, Sérgio L. Pereira, Daniele Merico, Edwin J. Young, Wilson W. L. Sung, Stephen W. Scherer, Wendy J. Ungar

    Опубликовано 2017
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    Artigo
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  15. 15
    Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

    Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature по Chelsea Lowther, Gregory Costain, Dimitri J. Stavropoulos, Rebecca Melvin, Candice K. Silversides, Danielle M. Andrade, Joyce So, Hanna Faghfoury, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett

    Опубликовано 2014
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  16. 16
    Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia

    Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia по Christian R. Marshall, Stephen W. Scherer, Maimoona A. Zariwala, Lynette Lau, Tara Paton, Tracy Stockley, Rebekah Jobling, Peter N. Ray, Michael R. Knowles, David A. Hall, Sharon Dell, Raymond H. Kim

    Опубликовано 2015
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  17. 17
    Peroxisomal D-bifunctional protein deficiency

    Peroxisomal D-bifunctional protein deficiency по Matthew A. Lines, Rebekah Jobling, Lauren Brady, Christian R. Marshall, Stephen W. Scherer, Amadeo R. Rodriguez, Liesly Lee, Anthony E. Lang, Tiago Mestre, Ronald J. A. Wanders, Sacha Ferdinandusse, Mark A. Tarnopolsky

    Опубликовано 2014
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  18. 18
    <i>De novo <scp>WNT5A</scp></i>‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

    <i>De novo <scp>WNT5A</scp></i>‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype по Maian Roifman, Carlo Marcelis, Tara Paton, Christian R. Marshall, Rachel Silver, Jamie L. Lohr, Helger G. Yntema, Hanka Venselaar, Hülya Kayserili, Bregje W.M. van Bon, Gareth Seaward, Han G. Brunner, David Chitayat

    Опубликовано 2014
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  19. 19
    Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

    Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study по Iris Cohn, Tara Paton, Christian R. Marshall, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Nasim Monfared, Robin Z. Hayeems, M. Stephen Meyn, Sarah Bowdin, Stephen W. Scherer, Ronald D. Cohn, Shinya Ito

    Опубликовано 2017
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  20. 20
    Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

    Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly по Marc Woodbury‐Smith, Éric Deneault, Ryan K. C. Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer Howe, Ny Hoang, Mohammed Uddin, Christian R. Marshall, Christina Chrysler, Ann Thompson, Péter Szatmári, Stephen W. Scherer

    Опубликовано 2017
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