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Works (4)

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A
2025-03-14 | Journal article
DOI: 10.1002/ajmg.a.64047
Contributors: Ethan M. Scott; Olivia K. Wenger; Matthew Adams; Emma L. Baple; Andew Crosby; Joseph Leslie
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Glycogen storage disease type 1a in the Ohio Amish

JIMD Reports
2022-09 | Journal article
DOI: 10.1002/jmd2.12310
Contributors: Ethan M. Scott; Olivia K. Wenger; Elizabeth Robinson; Kristina Colling; Miraides F. Brown; Jennifer Hershberger; Kadakkal Radhakrishnan
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A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder

PLOS Genetics
2021-09-27 | Journal article
DOI: 10.1371/journal.pgen.1009803
Contributors: Zineb Ammous; Gregory M. Cooper; Lettie E. Rawlins; Hannah Jones; Joseph S. Leslie; Olivia Wenger; Ethan Scott; Jim Deline; Tom Herr; Rebecca Evans et al.
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Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia

Journal of Clinical Immunology
2020-02 | Journal article
DOI: 10.1007/s10875-019-00739-9
Contributors: Ethan M. Scott; Sharat Chandra; Jinzhu Li; Eric D. Robinette; Miraides F. Brown; Olivia K. Wenger
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