Hasil Pencarian - Gregory Costain

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  1. 1
    P101: Determining the impact of rare canonical splice site variants: A comparison of functional and in silico methods

    P101: Determining the impact of rare canonical splice site variants: A comparison of functional and in silico methods oleh Rachel Oh, Ali AlMail, Huayun Hou, Gregory Costain

    Diterbitkan 2023-01-01
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  2. 2
    A KCNC1‐related neurological disorder due to gain of Kv3.1 function

    A KCNC1‐related neurological disorder due to gain of Kv3.1 function oleh Jerome Clatot, Natalie Ginn, Gregory Costain, Ethan M. Goldberg

    Diterbitkan 2023-01-01
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  3. 3
    O47: Leveraging somatic cancer mutation data to predict the pathogenicity of germline missense variants*

    O47: Leveraging somatic cancer mutation data to predict the pathogenicity of germline missense variants* oleh Bushra Haque, Saba Birkadze, Amy Pan, Alice Xu, Meredith Curtis, Gregory Costain

    Diterbitkan 2023-01-01
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  4. 4
    P829: Comparative medical genetics to facilitate the interpretation of rare missense variation

    P829: Comparative medical genetics to facilitate the interpretation of rare missense variation oleh Bushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin, Susan Walker, Michelle Morrow, Gregory Costain

    Diterbitkan 2024-01-01
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  5. 5
    Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review

    Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review oleh Whiwon Lee, Gregory Costain, Susan Blaser, Susan Walker, Christian R. Marshall, Hernan Gonorazky, Michal Inbar-Feigenberg

    Diterbitkan 2020-12-01
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  6. 6
    Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice

    Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice oleh Gregory Costain, Aideen M. Moore, Lauren Munroe, Alison Williams, Randi Zlotnik Shaul, Cheryl Rockman-Greenberg, Martin Offringa, Peter Kannu

    Diterbitkan 2018-03-01
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  7. 7
    P543: Design and early findings from a mixed-methods study exploring the genomics era role of the medical geneticist in Canada

    P543: Design and early findings from a mixed-methods study exploring the genomics era role of the medical geneticist in Canada oleh Michael Mackley, Kym Boycott, Shaimaa Helal, Lauren Chad, Gregory Costain, Ronald Cohn, Hanna Faghfoury, Aspasia Karalis, Roberto Mendoza-Londono, Robin Hayeems

    Diterbitkan 2024-01-01
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  8. 8
    P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development

    P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development oleh David Cheerie, Marlen Lauffer, Danique Beijer, Matthis Synofzik, Annemieke Aartsma-Rus, Michael Szego, Kimberly Amburgey, Brian Kalish, James Dowling, Gregory Costain

    Diterbitkan 2024-01-01
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  9. 9
    Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia

    Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia oleh Bahareh A. Mojarad, Yue Yin, Roozbeh Manshaei, Ian Backstrom, Gregory Costain, Tracy Heung, Daniele Merico, Christian R. Marshall, Anne S. Bassett, Ryan K. C. Yuen

    Diterbitkan 2021-02-01
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  10. 10
    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. oleh Candice K Silversides, Anath C Lionel, Gregory Costain, Daniele Merico, Ohsuke Migita, Ben Liu, Tracy Yuen, Jessica Rickaby, Bhooma Thiruvahindrapuram, Christian R Marshall, Stephen W Scherer, Anne S Bassett

    Diterbitkan 2012-01-01
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  11. 11
    P516: The Genetics Navigator: The development and usability testing of a new patient-facing digital health application to support clinical genetic testing

    P516: The Genetics Navigator: The development and usability testing of a new patient-facing digital health application to support clinical genetic testing oleh Marc Clausen, Stephanie Luca, Emma Reble, Rita Kodida, Saumeh Saeedi, Daena Hirjikaka, Lauren Chad, Gregory Costain, Hanna Faghfoury, Josh Silver, Serena Shastri-Estrada, Maureen Smith, Robin Hayeems, Yvonne Bombard

    Diterbitkan 2024-01-01
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  12. 12
    Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

    Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia oleh Chelsea Lowther, Daniele Merico, Gregory Costain, Jack Waserman, Kerry Boyd, Abdul Noor, Marsha Speevak, Dimitri J. Stavropoulos, John Wei, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett

    Diterbitkan 2017-11-01
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  13. 13
    Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

    Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders oleh Kristen M. Wigby, Deanna Brockman, Gregory Costain, Caitlin Hale, Stacie L. Taylor, John Belmont, David Bick, David Dimmock, Susan Fernbach, John Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft

    Diterbitkan 2024-02-01
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  14. 14
    Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility

    Homozygous EPRS1 missense variant causing hypomyelinating leukodystrophy-15 alters variant-distal mRNA m6A site accessibility oleh Debjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, Arnab China, Krishnendu Khan, Fabio Cumbo, Dalia Halawani, Fulvia Terenzi, Isaac Zin, Briana Long, Gregory Costain, Susan Blaser, Amanda Carnevale, Valentin Gogonea, Ranjan Dutta, Daniel Blankenberg, Grace Yoon, Paul L. Fox

    Diterbitkan 2024-05-01
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  15. 15
    Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

    Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders oleh Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A. Baribeau, Anne S. Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R. Marshall, Aparna Prasad, Moises A. Serrano, D. James Stavropoulos, Hope Twede, Joris R. Vermeesch, Jacob A. S. Vorstman, Stephen W. Scherer

    Diterbitkan 2019-02-01
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  16. 16
    A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

    A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods oleh Rachel Y. Oh, Ali AlMail, David Cheerie, George Guirguis, Huayun Hou, Kyoko E. Yuki, Bushra Haque, Bhooma Thiruvahindrapuram, Christian R. Marshall, Roberto Mendoza-Londono, Adam Shlien, Lianna G. Kyriakopoulou, Susan Walker, James J. Dowling, Michael D. Wilson, Gregory Costain

    Diterbitkan 2024-07-01
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  17. 17
    O05: A micro-costing and cost-effectiveness analysis of genome sequencing vs exome sequencing in pediatric rare diseases

    O05: A micro-costing and cost-effectiveness analysis of genome sequencing vs exome sequencing in pediatric rare diseases oleh Wendy Ungar, Vercancy Wu, Christian Marshall, Jackie Hwang, Robin Hayeems, Kate Tsiplova, Meredith Gillespie, Anna Szuto, Caitlin Chisholm, Dimitri Stavropoulos, Viji Venkataramanan, Bowen Xiao, Sheena Li, Gregory Costain, Melanie Beaulieu Bergeron, Sarah Sawyer, Lynette Lau, Lijia Huang, Roberto Mendoza-Londono, Brian Smith, Edward Higginbotham, Martin Somerville, Kym Boycott

    Diterbitkan 2024-01-01
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  18. 18
    P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study

    P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study oleh Nicole Si Yan Liang, Gregory Costain, Alissa D'Gama, Amy McTague, Katherine Howell, Vann Chau, Sarah Mulhern, Annapurna Poduri, Ingrid Scheffer, Beth Sheidley, Meredith Curtis, Edward Higginbotham, Tayyaba Khan, Lyndsey McRae, Kimberly Wiltrout, Robin Hayeems, Puneet Jain, Sebastian Lunke, Christian Marshall, Lyn Chitty, Shira Rockowitz, Zornitza Stark, Susan White

    Diterbitkan 2024-01-01
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  19. 19
    P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines

    P249: Gaps in the phenotype descriptions of ultra-rare genetic conditions: Review and multi-center consensus reporting guidelines oleh Ali AlMail, Ahmed Jamjoom, Amy Pan, Anna Feng, Vann Chau, Alissa D'Gama, Katherine Howell, Nicole Si Yan Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, Anne Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain

    Diterbitkan 2024-01-01
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  20. 20
    P616: Genome-wide Sequencing Ontario (GSO): Insight into Ontario’s rare disease landscape

    P616: Genome-wide Sequencing Ontario (GSO): Insight into Ontario’s rare disease landscape oleh Meredith Gillespie, Robin Hayeems, Christian Marshall, Anna Szuto, Caitlin Chisholm, Wendy Ungar, James Stavropoulos, Lijia Huang, Viji Venkataramanan, Lynette Lau, Wilson Sung, Melanie Beaulieu Bergeron, Ted Higginbotham, Meredith Curtis, Venuja Sriretnakumar, Hassan Zaidi, Emma Hitchcock, Audrey Schaffer, Sarah Sawyer, Wendy Ungar, Gregory Costain, Roberto Mendoza-Londono, Robin Hayeems, Martin Somerville, Kym Boycott, Taila Hartley

    Diterbitkan 2024-01-01
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