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Ophthalmic Genetics|September 30, 2025
A genotype to phenotype relationship of exudative vitreoretinopathy in Loeys-Dietz syndrome due to a pathogenic variant in <i>TGFBR2</i>Mark Lindquist, Viridiana Hernandez-Lopez, Debarshi Mustafi
Ophthalmology Science|January 6, 2026
Benchmarking AlphaMissense against ClinVar for Diagnostic Interpretation of Missense Variants in Inherited Retinal DiseasesMark Lindquist, Samson Darrah, Stefan T Stafie, et al.
Ophthalmology. Retina|March 21, 2022
The Current State of Genetic Testing Platforms for Inherited Retinal DiseasesDebarshi Mustafi, Fuki M Hisama, Jennifer Huey, et al.
International Ophthalmology Clinics|September 25, 2025
Retinoblastoma: Advances in Genetic TestingMark Lindquist, Debarshi Mustafi, Erin Crotty, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|October 30, 2025
Oral fluorescein angiography allows for more precise detection of sickle cell retinopathy in pediatric patientsMark Lindquist, Stefan T Stafie, Cameron Ward, et al.
Ophthalmic Genetics|August 13, 2025
Importance of genome reference and population datasets for annotation and prioritization of disease-causing variants in inherited retinal diseasesStefan T Stafie, Mark Lindquist, Samuel Kusher-Lenhoff, et al.
Medrxiv : the Preprint Server for Health Sciences|March 31, 2025
Longitudinal changes in optoretinography provide an early and sensitive biomarker of outer retinal diseaseTeng Liu, Benjamin Wendel, Jennifer Huey, et al.
Molecular Pharmacology|October 24, 2008
Topology of class A G protein-coupled receptors: insights gained from crystal structures of rhodopsins, adrenergic and adenosine receptorsDebarshi Mustafi, Krzysztof Palczewski
American Journal of Ophthalmology|May 30, 2025
Longitudinal Changes in Optoretinography Provide an Early and Sensitive Biomarker of Outer Retinal DiseaseTeng Liu, Benjamin J Wendel, Jennifer Huey, et al.
JCI Insight|December 26, 2024
Prognostic importance of direct assignment of parent of origin via long-read genome and epigenome sequencing in retinoblastomaAndrew W Stacey, Kenji Nakamichi, Jennifer Huey, et al.
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