Christy Smith
2PUBLICATIONS
37CO-AUTHORS
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Publications (2)
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|Mar 17, 2026
Phenotype-integrated reinterpretation of laboratory-reported ABCA4 gene sequencing results improves molecular diagnostic rate in Black/non-White patients and those with late-onset Stargardt macular dystrophy.Dorothy T Wang, Bani Antonio-Aguirre, Annabelle Pan
|Nov 12, 2025
Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy.Jordan Elliott Bontrager, Amy L White, Karlla W Brigatti
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Frequent Collaborators
1 joint publications
Dorothy T Wang
1 joint publications
Bani Antonio-Aguirre
1 joint publications
Annabelle Pan
1 joint publications
Maria Ludovica Ruggeri
1 joint publications
Setu P Mehta
1 joint publications
Carolyn Applegate
1 joint publications
Jefferson J Doyle
1 joint publications
Mandeep S Singh
1 joint publications
Jordan Elliott Bontrager
1 joint publications
Amy L White
