Fingerprint Fingerprint is based on mining the text of the persons scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 19 Similar Profiles
Mutation Medicine & Life Sciences
Retinitis Pigmentosa Medicine & Life Sciences
Gyrate Atrophy Medicine & Life Sciences
Genes Medicine & Life Sciences
Macular Degeneration Medicine & Life Sciences
Retina Medicine & Life Sciences
Ornithine-Oxo-Acid Transaminase Medicine & Life Sciences
Electroretinography Medicine & Life Sciences

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Research Output 1963 2018

  • 10121 Citations
  • 54 h-Index
  • 238 Article
  • 2 Chapter
  • 1 Review article

Automated detection of preserved photoreceptor on optical coherence tomography in choroideremia based on machine learning

Wang, Z., Camino, A., Hagag, A. M., Wang, J., Weleber, R. G., Yang, P., Pennesi, M. E., Huang, D., Li, D. & Jia, Y. Jan 1 2018 (Accepted/In press) In : Journal of Biophotonics.

Research output: Contribution to journalArticle

Choroideremia
photoreceptors
Retinal Degeneration
machine learning
degeneration

Characterization of visual function, interocular variability and progression using static perimetry-derived metrics in RPGR-associated retinopathy

Tee, J. J. L., Yang, Y., Kalitzeos, A., Webster, A., Bainbridge, J., Weleber, R. G. & Michaelides, M. May 1 2018 In : Investigative Ophthalmology and Visual Science. 59, 6, p. 2422-2436 15 p.

Research output: Contribution to journalArticle

Visual Field Tests
Retinitis Pigmentosa
GTP Phosphohydrolases
Octopodiformes
Regulator Genes

Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2

Lockhart, C. M., Smith, T. B., Yang, P., Naidu, M., Rettie, A. E., Nath, A., Weleber, R. & Kelly, E. J. Feb 1 2018 In : The British journal of ophthalmology. 102, 2, p. 187-194 8 p.

Research output: Contribution to journalArticle

Point Mutation
Mutation
Limbus Corneae
Retinal Pigment Epithelium
Cheek
2 Citations

Choriocapillaris evaluation in choroideremia using optical coherence tomography angiography

Gao, S. S., Patel, R. C., Jain, N., Zhang, M., Weleber, R. G., Huang, D., Pennesi, M. E. & Jia, Y. Jan 1 2017 In : Biomedical Optics Express. 8, 1, p. 48-56 9 p., #276323

Research output: Contribution to journalArticle

Choroideremia
angiography
Optical Coherence Tomography
classifiers
Angiography
1 Citations

Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association

Biswas, P., Duncan, J. L., Maranhao, B., Kozak, I., Branham, K., Gabriel, L., Lin, J. H., Barteselli, G., Navani, M., Suk, J., Parke, M., Schlechter, C., Weleber, R. G., Heckenlively, J. R., Dagnelie, G., Lee, P., Amerriazuddin, S. & Ayyagari, R. Apr 1 2017 In : Physiological Genomics. 49, 4, p. 216-229 14 p.

Research output: Contribution to journalArticle

Exome
Retinal Degeneration
Genetic Association Studies
Pedigree
Mutation