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Genes|May 28, 2022
Clinical Phenotypes of <i>CDHR1</i>-Associated Retinal DystrophiesVolha V Malechka, Catherine A Cukras, Emily Y Chew, et al.
Investigative Ophthalmology & Visual Science|March 19, 2024
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and ColobomaBhavana Kunisetty, Bailey A Martin-Giacalone, Xiaonan Zhao, et al.
Molecular Genetics and Metabolism|March 6, 2017
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPSMelanie M Bryan, Nathanial J Tolman, Karen L Simon, et al.
Ophthalmic Genetics|May 7, 2020
Atypical and ultra-rare Usher syndrome: a reviewRosalie M Nolen, Robert B Hufnagel, Thomas B Friedman, et al.
The British Journal of Ophthalmology|June 27, 2022
Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndromeLaryssa A Huryn, Taylor Flaherty, Rosalie Nolen, et al.
Investigative Ophthalmology & Visual Science|July 10, 2025
FOXP4 Variants Are Associated With Plateau Iris and Angle Closure GlaucomaWilliam Presley, Su Qing Wang, Bin Guan, et al.
Molecular Genetics & Genomic Medicine|September 8, 2019
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic featuresBianca E Russell, Diana Rigueur, Kathryn N Weaver, et al.
Frontiers in Cell and Developmental Biology|March 21, 2025
A zebrafish model of <i>crim1</i> loss of function has small and misshapen lenses with dysregulated <i>clic4</i> and <i>fgf1b</i> expressionTien Le, Stephanie Htun, Manoj Kumar Pandey, et al.
Investigative Ophthalmology & Visual Science|September 11, 2023
RPGR: Deep Phenotyping and Genetic Characterization With Findings Specific to the 3'-end of ORF15Matthew D Benson, Souvick Mukherjee, Aime R Agather, et al.
Plos Genetics|March 30, 2022
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 diseaseJana Zernant, Winston Lee, Jun Wang, et al.
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