A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Lars G. Fritsche, Wilmar Igl, Jessica N. Cooke Bailey, +158

Nature Genetics

Genome-wide Association StudyOcular DiseaseOphthalmologyGeneticsAge-related Diseases +4

Lanosterol reverses protein aggregation in cataracts

Ling Zhao, Xiangjun Chen, Jie Zhu, +40

Nature

Protein FunctionOxysterolBiochemistryProtein AggregationProtein Folding +3

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements

Feng Wang, Hui Wang, Han-Fang Tuan, +37

Human Genetics

Molecular Diagnostic TechniquesRetinitis PigmentosaGeneticsMedicineNext-generation Sequencing +8

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

Xiaowei Zhan, David E. Larson, Chaolong Wang, +56

Nature Genetics

Complement SystemOcular DiseaseAutoimmune DiseaseOphthalmologyGenetic Disorder +10

Hair Cortisol Level as a Biomarker for Altered Hypothalamic-Pituitary-Adrenal Activity in Female Adolescents with Posttraumatic Stress Disorder After the 2008 Wenchuan Earthquake

Hongrong Luo, Xun Hu, Xiang Liu, +11

Biological Psychiatry

Psychological Co-morbiditiesPsychoneuroimmunologyPsychopathologyStress HormonePsychiatry +12

Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing

Can Liao, Aihua Yin, Chunfang Peng, +17

Proceedings of the National Academy of Sciences

A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration

Hannes Helgason, Patrick Sulem, Maheswara R. Duvvari, +32

Nature Genetics

Ocular DiseaseOphthalmologyGenetic DisorderGeneticsGenetic Epidemiology +4

Next-Generation Sequencing and Novel Variant Determination in a Cohort of 92 Familial Exudative Vitreoretinopathy Patients

Jason S. Salvo, Vera Lyubasyuk, Mingchu Xu, +10

Investigative Ophthalmology & Visual Science

Human Retinal Progenitor Cell Transplantation Preserves Vision

Jing Luo, Petr Baranov, Sherrina Patel, +19

Journal of Biological Chemistry

RetinaOphthalmologyCell TransplantationGlaucomaMedicine +2

P16INK4a Upregulation Mediated by SIX6 Defines Retinal Ganglion Cell Pathogenesis in Glaucoma

Dorota Skowronska‐Krawczyk, Ling Zhao, Jie Zhu, +36

Molecular Cell