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  • Vaccination patterns of the... Vaccination patterns of the northeast Ohio Amish revisited
    Scott, Ethan M.; Stein, Rachel; Brown, Miraides F. ... Vaccine, 02/2021, Volume: 39, Issue: 7
    Journal Article
    Peer reviewed

    •Vaccine acceptance in the Amish decreased in the last decade, similar to the general population.•More conservative Amish sects were less likely to accept vaccines.•Parents of special needs children ...
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  • Recessive GM3 synthase defi... Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier
    Bowser, Lauren E.; Young, Millie; Wenger, Olivia K. ... Molecular genetics and metabolism, April 2019, 2019-04-00, 20190401, Volume: 126, Issue: 4
    Journal Article
    Peer reviewed

    GM3 synthase, encoded by ST3GAL5, initiates synthesis of all downstream cerebral gangliosides. Here, we present biochemical, functional, and natural history data from 50 individuals homozygous for a ...
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  • Homozygosity for a mutation... Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease
    Williams, Katie B; Brigatti, Karlla W; Puffenberger, Erik G ... Human molecular genetics, 02/2019, Volume: 28, Issue: 4
    Journal Article
    Peer reviewed
    Open access

    Abstract Aminoacyl-tRNA synthetases (ARSs) are critical for protein translation. Pathogenic variants of ARSs have been previously associated with peripheral neuropathy and multisystem disease in ...
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  • Abnormal Newborn Screening ... Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia
    Scott, Ethan M.; Chandra, Sharat; Li, Jinzhu ... Journal of clinical immunology, 02/2020, Volume: 40, Issue: 2
    Journal Article
    Peer reviewed

    Cartilage-hair hypoplasia (CHH) is an autosomal recessive, short limb skeletal dysplasia with a variable immunologic phenotype. The spectrum of immune function ranges from clinically normal to severe ...
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  • Underimmunization in Ohio's Amish: parental fears are a greater obstacle than access to care
    Wenger, Olivia K; McManus, Mark D; Bower, John R ... Pediatrics (Evanston), 07/2011, Volume: 128, Issue: 1
    Journal Article
    Peer reviewed

    Holmes County, Ohio, one of the largest Amish communities in the world, has persistently low immunization rates. Studies of other Amish communities have revealed that parents do not immunize their ...
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  • Glycogen storage disease ty... Glycogen storage disease type 1a in the Ohio Amish
    Scott, Ethan M.; Wenger, Olivia K.; Robinson, Elizabeth ... JIMD reports, September 2022, Volume: 63, Issue: 5
    Journal Article
    Peer reviewed
    Open access

    Glycogen storage disease type 1a (GSD1a) is an inborn error of glucose metabolism characterized by fasting hypoglycemia, hepatomegaly, and growth failure. Late complications include nephropathy and ...
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  • Elucidating the clinical sp... Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency
    Fasham, James; Lin, Siying; Ghosh, Promita ... Genetics in medicine, 03/2022, Volume: 24, Issue: 3
    Journal Article
    Peer reviewed
    Open access

    We previously defined biallelic HYAL2 variants causing a novel disorder in 2 families, involving orofacial clefting, facial dysmorphism, congenital heart disease, and ocular abnormalities, with Hyal2 ...
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  • Effect of FCGR2A and FCGR3A... Effect of FCGR2A and FCGR3A variants on CLL outcome
    Dornan, David; Spleiss, Olivia; Yeh, Ru-Fang ... Blood, 11/2010, Volume: 116, Issue: 20
    Journal Article
    Peer reviewed
    Open access

    Polymorphisms of activating Fc-γ receptors (FCGRs) on natural killer cells and macrophages result in variable affinity for immunoglobulin G1 monoclonal antibodies and subsequently modulate ...
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  • Large-scale mutational anal... Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans
    Rael, Victoria E; Yano, Julian A; Huizar, John P ... The Journal of experimental medicine, 08/2024, Volume: 221, Issue: 8
    Journal Article
    Peer reviewed
    Open access

    Nucleic acid-sensing Toll-like receptors (TLR) 3, 7/8, and 9 are key innate immune sensors whose activities must be tightly regulated to prevent systemic autoimmune or autoinflammatory disease or ...
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