Ngā hua rapu - 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 mā AA Lemke, David Bick, David Dimmock, Pippa Simpson, Regan Veith

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Benedikt Schoser, Deborah A. Bilder, David Dimmock, Digant Gupta, Emma James, Suyash Prasad

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  3. 3
    SIGIRR Genetic Variants in Premature Infants With Necrotizing Enterocolitis

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

    I whakaputaina 2015
    Whiwhi kuputuhi katoa
    Artigo
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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 mā Linda S. Franck, Rebecca M. Kriz, Seema Rego, Karen Garman, Charlotte A. Hobbs, David Dimmock

    I whakaputaina 2021
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Carta
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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 mā Suyash Prasad, David Dimmock, Benjamin Greenberg, Jagdeep S. Walia, Chanchal Sadhu, Fatemeh Tavakkoli, Gerald S. Lipshutz

    I whakaputaina 2022
    Whiwhi kuputuhi katoa
    Revisão
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  6. 6
    An online compendium of treatable genetic disorders

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

    I whakaputaina 2020
    Whiwhi kuputuhi katoa
    Artigo
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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 mā Venkatesh Sampath, Jeffery S. Garland, Daniel Helbling, David Dimmock, Neil Mulrooney, Pippa Simpson, Jeffrey C. Murray, John M. Dagle

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Michelle M. Clark, Zornitza Stark, Lauge Farnaes, Tiong Yang Tan, Susan M. White, David Dimmock, Stephen F. Kingsmore

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    A timely arrival for genomic medicine

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

    I whakaputaina 2010
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Carta
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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 mā Julie A. Cakici, David Dimmock, Sara Caylor, Mary Gaughran, Christina Clarke, Cynthia Triplett, Michelle M. Clark, Stephen F. Kingsmore, Cinnamon S. Bloss

    I whakaputaina 2020
    Whiwhi kuputuhi katoa
    Artigo
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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 mā Lee‐Jun C. Wong, David Dimmock, Michael T. Geraghty, Richard Quan, Uta Lichter‐Konecki, Jing Wang, Ellen K. Brundage, Fernando Scaglia, A. Craig Chinault

    I whakaputaina 2008
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Elizabeth A. Worthey, Gordana Raca, Jennifer Laffin, Brandon Wilk, Jeremy M. Harris, Kathy J. Jakielski, David Dimmock, Edythe A. Strand, Lawrence D. Shriberg

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā Stephen F. Kingsmore, Audrey J. Henderson, Mallory Owen, Michelle M. Clark, Christian Holm Hansen, David Dimmock, Christina Chambers, Laura Jeliffe‐Pawlowski, Charlotte A. Hobbs

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    Clinical utility of genomic sequencing: a measurement toolkit

    Clinical utility of genomic sequencing: a measurement toolkit mā 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

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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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 mā 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

    I whakaputaina 2021
    Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2024
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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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 mā 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

    I whakaputaina 2023
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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