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Germ-line and somatic EPHA2 coding variants in lens aging and cataract

. Fielding Hejtmancik, Alan Shiels. Data curation: Thomas M. Bennett, Alan Shiels. Formal analysis: Thomas M. Bennett, Oussama M'Hamdi, J. Fielding Hejtmancik, Alan Shiels. Funding acquisition: Alan Shiels ... . Investigation: Thomas M. Bennett, Alan Shiels. Project administration: Alan Shiels. Resources: J. Fielding Hejtmancik, Alan Shiels. Supervision: J. Fielding Hejtmancik, Alan Shiels. Validation: Thomas M

Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma

Primary open-angle glaucoma (POAG) is a clinically important and genetically heterogeneous cause of progressive vision loss as a result of retinal ganglion cell death. Here we have utilized trio-based, whole-exome sequencing to identify the genetic defect underlying an autosomal dominant form of adult-onset POAG segregating in an African-American family. Exome sequencing...

Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract

Background Inherited cataract is a clinically important and genetically heterogeneous cause of visual impairment. Typically, it presents at an early age with or without other ocular/systemic signs and lacks clear phenotype-genotype correlation rendering both clinical classification and molecular diagnosis challenging. Here we have utilized trio-based whole exome sequencing to...

Mutation of the Melastatin-Related Cation Channel, TRPM3, Underlies Inherited Cataract and Glaucoma

Inherited forms of cataract are a clinically important and genetically heterogeneous cause of visual impairment that usually present at an early age with or without systemic and/or other ocular abnormalities. Here we have identified a new locus for inherited cataract and high-tension glaucoma with variable anterior segment defects, and characterized an underlying mutation in the...