Phenotype-integrated reinterpretation of laboratory-reported <i>ABCA4</i> 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, Maria Ludovica Ruggeri, Setu P Mehta, Christy H Smith, Kelsey S Guthrie, Carolyn Applegate, Jefferson J Doyle, Mandeep S. Singh

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DOI: 10.1080/13816810.2026.2621864
Published: 2026-03-16
Container: Ophthalmic Genetics
Publisher: Informa UK Limited
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1080/13816810.2026.2621864,
  title = {Phenotype-integrated reinterpretation of laboratory-reported
                    <i>ABCA4</i>
                    gene sequencing results improves molecular diagnostic rate in Black/non-White patients and those with late-onset Stargardt macular dystrophy},
  author = {Dorothy T Wang and Bani Antonio-Aguirre and Annabelle Pan and Maria Ludovica Ruggeri and Setu P Mehta and Christy H Smith and Kelsey S Guthrie and Carolyn Applegate and Jefferson J Doyle and Mandeep S. Singh},
  year = {2026},
  journal = {Ophthalmic Genetics},
  doi = {10.1080/13816810.2026.2621864},
  url = {https://doi.org/10.1080/13816810.2026.2621864}
}

RIS

TY  - JOUR
TI  - Phenotype-integrated reinterpretation of laboratory-reported
                    <i>ABCA4</i>
                    gene sequencing results improves molecular diagnostic rate in Black/non-White patients and those with late-onset Stargardt macular dystrophy
AU  - Dorothy T Wang
AU  - Bani Antonio-Aguirre
AU  - Annabelle Pan
AU  - Maria Ludovica Ruggeri
AU  - Setu P Mehta
AU  - Christy H Smith
AU  - Kelsey S Guthrie
AU  - Carolyn Applegate
AU  - Jefferson J Doyle
AU  - Mandeep S. Singh
PY  - 2026
JO  - Ophthalmic Genetics
DO  - 10.1080/13816810.2026.2621864
UR  - https://doi.org/10.1080/13816810.2026.2621864
ER  -

APA

Wang, D. T., Antonio-Aguirre, B., Pan, A., Ruggeri, M. L., Mehta, S. P., Smith, C. H., Guthrie, K. S., Applegate, C., Doyle, J. J., & Singh, M. S. (2026). Phenotype-integrated reinterpretation of laboratory-reported <i>ABCA4</i> gene sequencing results improves molecular diagnostic rate in Black/non-White patients and those with late-onset Stargardt macular dystrophy. Ophthalmic Genetics. https://doi.org/10.1080/13816810.2026.2621864

Source records

crossref · retrieved 2026-09-27T11:11:52.836Z