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Antioxidants (Basel, Switzerland)|November 27, 2024
Oxidative Stress in Genetic Cataract FormationJames Fielding Hejtmancik
Journal of Human Genetics|August 24, 2012
Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1Lin Li, Xueshan Xiao, Changxian Yi, et al.
Molecular Medicine Reports|September 16, 2021
Novel compound heterozygous mutations in CYP1B1 identified in a Chinese family with developmental glaucomaSuping Cai, Daren Zhang, Xiaodong Jiao, et al.
Molecular Vision|June 1, 2006
A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian familyVanita Vanita, Jai Rup Singh, James Fielding Hejtmancik, et al.
Molecular Vision|September 15, 2006
The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46Lars Hansen, Wenliang Yao, Hans Eiberg, et al.
The British Journal of Ophthalmology|November 14, 2023
Bietti's crystalline dystrophy: genotyping and deep qualitative and quantitative phenotyping in preparation for clinical trialsQian Li, Cong Wang, Shengjuan Zhang, et al.
Molecular Vision|March 7, 2006
Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian originVanita Vanita, James Fielding Hejtmancik, Hans Christian Hennies, et al.
Investigative Ophthalmology & Visual Science|January 30, 2025
ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder PhenotypeYingwei Wang, Pangfeng Wang, Zhen Yi, et al.
Progress in Retinal and Eye Research|May 31, 2025
Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomesDongwei Guo, Yi Jiang, Yuxi Zheng, et al.
Molecular Neurobiology|March 23, 2026
Recurrent and Non-Recurrent Copy Number Variants in Native Americans and a Cosmopolitan Sample in Relation to Alcohol Use Disorder and Other Psychiatric DiseasesSalma M Wakil, Keita Morisaki, Pei-Hong Shen, et al.
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