Search Results - Rory Tinker

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  1. 1

    O52: Phenotypic convergence in the diagnostic process of Mendelian genetic disorders* by Rory Tinker, Josh Peterson, Lisa Bastarache

    Published in Genetics in Medicine Open (2023-01-01)
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  2. 2

    O27: Leveraging electronic health records to characterize growth patterns and curves in individuals with genetic disease by Cathy Shyr, Rory Tinker, John Phillips, Lisa Bastarache

    Published in Genetics in Medicine Open (2025-01-01)
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  3. 3

    Pentraxin 3 regulates neutrophil infiltration to the brain during neuroinflammation [version 1; peer review: 2 approved] by Ivana Rajkovic, Eloise Lemarchand, Raymond Wong, Stuart M. Allan, Rory Tinker, Emmanuel Pinteaux

    Published in AMRC Open Research (2019-05-01)
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  4. 4

    P818: Data from electronic healthcare records expands our understanding of X-linked genetic diseases* by Rory Tinker, Lisa Bastarache, Kimberly Ezell, Serena Neumann, Yutaka Furuta, Karee Morgan, John Phillips

    Published in Genetics in Medicine Open (2024-01-01)
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  5. 5

    35: A rare mechanism of Russell-Silver syndrome acquired from a maternally derived unbalanced translocation, t(X;11) by Rebecca B. Smith, Ashwini Yenamandra, Meng-Chang Hsiao, Yingda Wang, Sophia D. Stewart, Rory Tinker, Neena Agrawal

    Published in Genetics in Medicine Open (2025-01-01)
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  6. 6

    P328: The contribution of mosaicism to genetic diseases and presumed de novo mutations* by Rory Tinker, Lisa Bastarache, Kimberly Ezell, Shilpa Nadimpalli Kobren, Cecilia Esteves, Rizwan Hamid, Joy Cogan, David Rinker, Souhrid Mukharjee, John A. Phillips

    Published in Genetics in Medicine Open (2023-01-01)
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  7. 7

    O31: X-linked inheritance results in different sex-specific phenotypes, penetrance, disease course, diagnostic odysseys, and newborn screening sensitivity in Fabry disease by Yutaka Furuta, Natalie Owen, Lisa Bastarache, Chelsea Lauderdale, Laila AI-Shaar, Elvira Ponce, Neena Agrawal, Camille Carter, Karee Morgan, Rizwan Hamid, John Phillips, Rory Tinker

    Published in Genetics in Medicine Open (2025-01-01)
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