檢索結果 - Dimitri J. Stavropoulos

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  1. 1
    Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability

    Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability 由 Felippe Borlot, Brigid M. Regan, Anne S. Bassett, Dimitri J. Stavropoulos, Danielle M. Andrade

    出版 2017
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  2. 2
    1q21.1 Microduplication expression in adults

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

    出版 2012
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  3. 3
    CCMG practice guideline: laboratory guidelines for next-generation sequencing

    CCMG practice guideline: laboratory guidelines for next-generation sequencing 由 Stacey Hume, Tanya N. Nelson, Marsha Speevak, M. Elizabeth McCready, Ron Agatep, Harriet Feilotter, Jillian S. Parboosingh, Dimitri J. Stavropoulos, Sherryl A. Taylor, Tracy Stockley

    出版 2019
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  4. 4
    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 由 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

    出版 2015
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  5. 5
    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 由 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

    出版 2017
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  6. 6
    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 由 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

    出版 2014
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  7. 7
    PhenoTips: Patient Phenotyping Software for Clinical and Research Use

    PhenoTips: Patient Phenotyping Software for Clinical and Research Use 由 Marta Gîrdea, Sergiu Dumitriu, Marc Fiume, Sarah Bowdin, Kym M. Boycott, Sébastien Chénier, David Chitayat, Hanna Faghfoury, M. Stephen Meyn, Peter N. Ray, Joyce So, Dimitri J. Stavropoulos, Michael Brudno

    出版 2013
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  8. 8
    Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

    Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study 由 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

    出版 2017
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  9. 9
    Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

    Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada 由 Christine M. Armour, Shelley Dougan, Jo‐Ann Brock, Radha Chari, Bernie N. Chodirker, Isabelle DeBie, Jane Evans, William T. Gibson, Elena Kolomietz, Tanya N. Nelson, Frédérique Tihy, Mary Ann Thomas, Dimitri J. Stavropoulos

    出版 2018
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  10. 10
    Clinically relevant copy number variations detected in cerebral palsy

    Clinically relevant copy number variations detected in cerebral palsy 由 Maryam Oskoui, Matthew J. Gazzellone, Bhooma Thiruvahindrapuram, Mehdi Zarrei, John Andersen, John Wei, Zhuozhi Wang, Richard F. Wintle, Christian R. Marshall, Ronald D. Cohn, Rosanna Weksberg, Dimitri J. Stavropoulos, Darcy Fehlings, Michael Shevell, Stephen W. Scherer

    出版 2015
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  11. 11
    Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

    Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants 由 M. Siu, Darci T. Butcher, Andrei L. Turinsky, Cheryl Cytrynbaum, Dimitri J. Stavropoulos, Susan Walker, Oana Caluseriu, M. Carter, Y. Lou, Rob Nicolson, Stelios Georgiades, Péter Szatmári, Evdokia Anagnostou, Stephen W. Scherer, Sanaa Choufani, Michael Brudno, Rosanna Weksberg

    出版 2019
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  12. 12
    CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

    CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems 由 Sébastien Chénier, Grace Yoon, Bob Argiropoulos, Julie Lauzon, Rachel Laframboise, Joo Wook Ahn, Caroline Mackie Ogilvie, Anath C. Lionel, Christian R. Marshall, Andrea K. Vaags, Bita Hashemi, Karine Boisvert, Géraldine Mathonnet, Frédérique Tihy, Joyce So, Stephen W. Scherer, Emmanuelle Lemyre, Dimitri J. Stavropoulos

    出版 2014
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  13. 13
    Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

    Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing 由 Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S. Reuter, Meaghan Snell, Sarah Bowdin, Ronald D. Cohn, Lucie Dupuis, Stacy Hewson, Saadet Mercimek‐Andrews, Cheryl Shuman, Neal Sondheimer, Rosanna Weksberg, Grace Yoon, M. Stephen Meyn, Dimitri J. Stavropoulos, Stephen W. Scherer, Roberto Mendoza‐Londono, Christian R. Marshall

    出版 2018
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  14. 14
    Germline and somatic mutations in <i>STXBP1</i> with diverse neurodevelopmental phenotypes

    Germline and somatic mutations in <i>STXBP1</i> with diverse neurodevelopmental phenotypes 由 Mohammed Uddin, Marc Woodbury‐Smith, Ada J. S. Chan, Ledia Brunga, Sylvia Lamoureux, Giovanna Pellecchia, Ryan K. C. Yuen, Muhammad Faheem, Dimitri J. Stavropoulos, James M. Drake, Cecil D. Hahn, Cynthia Hawkins, Adam Shlien, Christian R. Marshall, Lesley Turner, Berge A. Minassian, Stephen W. Scherer, Cyrus Boelman

    出版 2017
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  15. 15
    Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

    Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease 由 Christian R. Marshall, Shimul Chowdhury, Ryan J. Taft, Matthew S. Lebo, Jillian G. Buchan, Steven M. Harrison, Ross Rowsey, Eric W. Klee, Pengfei Liu, Elizabeth A. Worthey, Vaidehi Jobanputra, David Dimmock, Hutton M. Kearney, David Bick, Shashikant Kulkarni, Stacie L. Taylor, John W. Belmont, Dimitri J. Stavropoulos, Niall J. Lennon

    出版 2020
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  16. 16
    NSD1 mutations generate a genome-wide DNA methylation signature

    NSD1 mutations generate a genome-wide DNA methylation signature 由 Sanaa Choufani, Cheryl Cytrynbaum, Brian Hon‐Yin Chung, Andrei L. Turinsky, Daria Grafodatskaya, Youxi Chen, Ana S.A. Cohen, Lucie Dupuis, Darci T. Butcher, M. Siu, Ho‐Ming Luk, Ivan F. M. Lo, Stephen T.S. Lam, Oana Caluseriu, Dimitri J. Stavropoulos, William Reardon, Roberto Mendoza‐Londono, Michael Brudno, William T. Gibson, David Chitayat, Rosanna Weksberg

    出版 2015
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  17. 17
    Clinical and genetic study of hereditary spastic paraplegia in Canada

    Clinical and genetic study of hereditary spastic paraplegia in Canada 由 Nicolas Chrestian, Nicolas Dupré, Ziv Gan‐Or, Anna Szuto, Shiyi Chen, Anil Venkitachalam, Jean‐Denis Brisson, Jodi Warman‐Chardon, Sohnee Ahmed, Setareh Ashtiani, H. Robson MacDonald, Noreen Mohsin, Karim Mourabit-Amari, Pierre Provencher, Kym M. Boycott, Dimitri J. Stavropoulos, Patrick A. Dion, Peter N. Ray, Oksana Suchowersky, Guy A. Rouleau, Grace Yoon

    出版 2016
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  18. 18
    A high-resolution copy-number variation resource for clinical and population genetics

    A high-resolution copy-number variation resource for clinical and population genetics 由 Mohammed Uddin, Bhooma Thiruvahindrapuram, Susan Walker, Zhuozhi Wang, Pingzhao Hu, Sylvia Lamoureux, John Wei, Jeffrey R. MacDonald, Giovanna Pellecchia, Chao Lu, Anath C. Lionel, Matthew J. Gazzellone, John McLaughlin, Catherine Brown, Irene L. Andrulis, Julia A. Knight, Jo-Anne Herbrick, Richard F. Wintle, Peter N. Ray, Dimitri J. Stavropoulos, Christian R. Marshall, Stephen W. Scherer

    出版 2014
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  19. 19
    Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity

    Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity 由 Gregory Costain, Susan Walker, Maria Marano, Danielle Veenma, Meaghan Snell, Meredith Curtis, Stephanie Luca, Jason Buera, Danielle Arje, Miriam S. Reuter, Bhooma Thiruvahindrapuram, Brett Trost, Wilson W. L. Sung, Ryan K. C. Yuen, David Chitayat, Roberto Mendoza‐Londono, Dimitri J. Stavropoulos, Stephen W. Scherer, Christian R. Marshall, Ronald D. Cohn, Eyal Cohen, Julia Orkin, M. Stephen Meyn, Robin Z. Hayeems

    出版 2020
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  20. 20
    De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

    De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy 由 Mehdi Zarrei, Darcy Fehlings, Karizma Mawjee, Lauren Switzer, Bhooma Thiruvahindrapuram, Susan Walker, Daniele Merico, Guillermo Casallo, Mohammed Uddin, Jeffrey R. MacDonald, Matthew J. Gazzellone, Edward J. Higginbotham, Craig Campbell, Gabrielle deVeber, Pam Frid, Jan Willem Gorter, Carolyn Hunt, Anne Kawamura, Marie Kim, Anna McCormick, Ronit Mesterman, Dawa Samdup, Christian R. Marshall, Dimitri J. Stavropoulos, Richard F. Wintle, Stephen W. Scherer

    出版 2017
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