Søgeresultater - David Dimmock

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  1. 1
    Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study

    Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study af AA Lemke, David Bick, David Dimmock, Pippa Simpson, Regan Veith

    Udgivet 2012
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  2. 2
    The humanistic burden of Pompe disease: are there still unmet needs? A systematic review

    The humanistic burden of Pompe disease: are there still unmet needs? A systematic review af Benedikt Schoser, Deborah A. Bilder, David Dimmock, Digant Gupta, Emma James, Suyash Prasad

    Udgivet 2017
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  3. 3
    SIGIRR Genetic Variants in Premature Infants With Necrotizing Enterocolitis

    SIGIRR Genetic Variants in Premature Infants With Necrotizing Enterocolitis af Venkatesh Sampath, Heather Menden, Daniel Helbling, Keguo Li, Adam Gastonguay, Ramani Ramchandran, David Dimmock

    Udgivet 2015
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  4. 4
    Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption

    Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption af Linda S. Franck, Rebecca M. Kriz, Seema Rego, Karen Garman, Charlotte A. Hobbs, David Dimmock

    Udgivet 2021
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  5. 5
    Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches

    Immune Responses and Immunosuppressive Strategies for Adeno-Associated Virus-Based Gene Therapy for Treatment of Central Nervous System Disorders: Current Knowledge and Approaches af Suyash Prasad, David Dimmock, Benjamin Greenberg, Jagdeep S. Walia, Chanchal Sadhu, Fatemeh Tavakkoli, Gerald S. Lipshutz

    Udgivet 2022
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  6. 6
    An online compendium of treatable genetic disorders

    An online compendium of treatable genetic disorders af David Bick, Sarah L. Bick, David Dimmock, Tom Fowler, Mark J. Caulfield, Richard H. Scott

    Udgivet 2020
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  7. 7
    Antioxidant response genes sequence variants and BPD susceptibility in VLBW infants

    Antioxidant response genes sequence variants and BPD susceptibility in VLBW infants af Venkatesh Sampath, Jeffery S. Garland, Daniel Helbling, David Dimmock, Neil Mulrooney, Pippa Simpson, Jeffrey C. Murray, John M. Dagle

    Udgivet 2014
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  8. 8
    Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases

    Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases af Michelle M. Clark, Zornitza Stark, Lauge Farnaes, Tiong Yang Tan, Susan M. White, David Dimmock, Stephen F. Kingsmore

    Udgivet 2018
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  9. 9
    A timely arrival for genomic medicine

    A timely arrival for genomic medicine af Alan N. Mayer, David Dimmock, Marjorie J. Arca, David Bick, James Verbsky, Elizabeth A. Worthey, Howard J. Jacob, David A. Margolis

    Udgivet 2010
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  10. 10
    A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants

    A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants af Julie A. Cakici, David Dimmock, Sara Caylor, Mary Gaughran, Christina Clarke, Cynthia Triplett, Michelle M. Clark, Stephen F. Kingsmore, Cinnamon S. Bloss

    Udgivet 2020
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  11. 11
    Utility of Oligonucleotide Array–Based Comparative Genomic Hybridization for Detection of Target Gene Deletions

    Utility of Oligonucleotide Array–Based Comparative Genomic Hybridization for Detection of Target Gene Deletions af Lee‐Jun C. Wong, David Dimmock, Michael T. Geraghty, Richard Quan, Uta Lichter‐Konecki, Jing Wang, Ellen K. Brundage, Fernando Scaglia, A. Craig Chinault

    Udgivet 2008
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  12. 12
    Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech

    Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech af Elizabeth A. Worthey, Gordana Raca, Jennifer Laffin, Brandon Wilk, Jeremy M. Harris, Kathy J. Jakielski, David Dimmock, Edythe A. Strand, Lawrence D. Shriberg

    Udgivet 2013
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  13. 13
    Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing

    Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing af Stephen F. Kingsmore, Audrey J. Henderson, Mallory Owen, Michelle M. Clark, Christian Holm Hansen, David Dimmock, Christina Chambers, Laura Jeliffe‐Pawlowski, Charlotte A. Hobbs

    Udgivet 2020
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  14. 14
    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 af 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

    Udgivet 2020
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  15. 15
    A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome

    A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome af Ran Jing, James Corbett, Jun Cai, Gyda C. Beeson, Craig C. Beeson, Sherine S.L. Chan, David Dimmock, Lynn Lazcares, Aron M. Geurts, John J. Lemasters, Stephen A. Duncan

    Udgivet 2018
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  16. 16
    Clinical utility of genomic sequencing: a measurement toolkit

    Clinical utility of genomic sequencing: a measurement toolkit af Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan C. Lanpher, Vaidehi Jobanputra, Roberto Mendoza‐Londono, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan A. Ashley

    Udgivet 2020
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  17. 17
    Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

    Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease af Nathaly M. Sweeney, Shareef Nahas, Shimul Chowdhury, Serge Batalov, Michelle M. Clark, Sara Caylor, Julie A. Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte A. Hobbs, David Dimmock, Stephen F. Kingsmore

    Udgivet 2021
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  18. 18
    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 af Kristen Wigby, Deanna Brockman, Gregory Costain, Caitlin L. Hale, Stacie L. Taylor, John W. Belmont, David Bick, David Dimmock, Susan Fernbach, John M. Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft

    Udgivet 2024
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  19. 19
    Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease

    Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease af Yoav H. Messinger, Nancy J. Mendelsohn, William J. Rhead, David Dimmock, Eli Hershkovitz, Michael Champion, Simon Jones, Rebecca Olson, Amy White, Cara Wells, Deeksha Bali, Laura E. Case, Sarah P. Young, Amy S. Rosenberg, Priya S. Kishnani

    Udgivet 2012
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  20. 20
    Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’s Project Baby Deer

    Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’s Project Baby Deer af Caleb Bupp, Elizabeth G. Ames, Madison Arenchild, Sara Caylor, David Dimmock, Joseph Fakhoury, Padmani Karna, April Lehman, Cristian Meghea, Vinod K. Misra, Danielle Nolan, John J. O’Shea, Aditi Sharangpani, Linda S. Franck, Andrea Scheurer‐Monaghan

    Udgivet 2023
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